Blood Coagulation Disorders, Inherited
Blood Coagulation Disorders
Disseminated Intravascular Coagulation
Blood Coagulation Factors
Partial Thromboplastin Time
Factor X Deficiency
Factor V Deficiency
Blood Coagulation Factor Inhibitors
Hydroxyethyl Starch Derivatives
Factor XI Deficiency
Factor XII Deficiency
Fibrin Fibrinogen Degradation Products
Life-threatening thrombosis in mice with targeted Arg48-to-Cys mutation of the heparin-binding domain of antithrombin. (1/38)Antithrombin (AT) inhibits thrombin and some other coagulation factors in a reaction that is dramatically accelerated by binding of a pentasaccharide sequence present in heparin/heparan-sulfate to a heparin-binding site on AT. Based on the involvement of R47 in the heparin/AT interaction and the frequent occurrence of R47 mutations in AT deficiency patients, targeted knock-in of the corresponding R48C substitution in AT in mice was performed to generate a murine model of spontaneous thrombosis. The mutation efficiently abolished the effect of heparin-like molecules on coagulation inhibition in vitro and in vivo. Mice homozygous for the mutation (AT(m/m) mice) developed spontaneous, life-threatening thrombosis, occurring as early as the day of birth. Only 60% of the AT(m/m) offspring reached weaning age, with further loss at different ages. Thrombotic events in adult homozygotes were most prominent in the heart, liver, and in ocular, placental, and penile vessels. In the neonate, spontaneous death invariably was associated with major thrombosis in the heart. This severe thrombotic phenotype underlines a critical function of the heparin-binding site of antithrombin and its interaction with heparin/heparan-sulfate moieties in health, reproduction, and survival, and represents an in vivo model for comparative analysis of heparin-derived and other antithrombotic molecules. (+info)
Congenital bleeding disorders. (2/38)Both clinical and basic problems related to the congenital bleeding disorders continue to confront hematologists. On the forefront are efforts to bring genetic correction of the more common bleeding disorders such as hemophilia A to the clinic in a safe and accessible manner. A second issue, particularly for patients with hemophilia, is the development of inhibitors-questions of how they arise and how to prevent and treat these problems that confound otherwise very successful replacement therapy and allow patients to maintain normal lifestyles. A third issue is the continuing question of diagnosis and management of von Willebrand disease, the most common congenital bleeding disorder, especially in individuals who have borderline laboratory values, but have a history of clinical bleeding. In Section I, Dr. Christopher Walsh discusses general principles of effective gene transfer for the hemophilias, specific information about viral vectors and non-viral gene transfer, and alternative target tissues for factor VIII and factor IX production. He highlights information about the immune response to gene transfer and reviews data from the hemophilia gene transfer trials to date. The future prospects for newer methods of therapy such as RNA repair and the use of gene-modified circulating endothelial progenitors are presented as possible alternatives to the more traditional gene therapy approaches. In Section II, Dr. Nigel Key focuses on inhibitor development in patients with hemophilia A. He reviews the progress in our understanding of the risk factors and presents newer information about the immunobiology of inhibitor development. He discusses the natural history of these inhibitors and the screening, laboratory diagnosis, and treatment, including the use of different modalities for the treatment of acute bleeding episodes. Dr. Key also presents information about the eradication of inhibitors by immune tolerance induction and reviews recent information from the international registries regarding the status and success of immune tolerance induction. In Section III, Dr. Margaret Rick discusses the diagnosis, classification, and management of von Willebrand disease. Attention is given to the difficulty of diagnosis in patients with mild bleeding histories and borderline laboratory test results for von Willebrand factor. She presents the value of different laboratory assays for both diagnosis and classification, and she relates the classification of von Willebrand disease to the choice of treatment and to the known genetic mutations. Practical issues of diagnosis and treatment, including clinical cases, will be presented. (+info)
Recessively inherited coagulation disorders. (3/38)Deficiencies of coagulation factors other than factor VIII and factor IX that cause bleeding disorders are inherited as autosomal recessive traits and are rare, with prevalences in the general population varying between 1 in 500 000 and 1 in 2 million for the homozygous forms. As a consequence of the rarity of these deficiencies, the type and severity of bleeding symptoms, the underlying molecular defects, and the actual management of bleeding episodes are not as well established as for hemophilia A and B. We investigated more than 1000 patients with recessively inherited coagulation disorders from Italy and Iran, a country with a high rate of recessive diseases due to the custom of consanguineous marriages. Based upon this experience, this article reviews the genetic basis, prevalent clinical manifestations, and management of these disorders. The steps and actions necessary to improve the condition of these often neglected patients are outlined. (+info)
Analysis of biological phenotypes from 42 patients with inherited factor VII deficiency: can biological tests predict the bleeding risk? (4/38)BACKGROUND AND OBJECTIVES: Inherited factor VII (FVII) deficiency is a rare bleeding disorder characterized by a poor relationship between reported FVII clotting activity (FVII:C) and bleeding tendency. Our study was aimed at defining biological parameters that are possibly predictive for bleeding risk in this condition. DESIGN AND METHODS: Forty-two FVII-deficient patients (FVII:C <30%) were classified into two opposite clinical groups defined as severe and non-or-mild bleeders. For each patient, plasma samples were collected and then investigated for FVII:C (using a sensitive method and human recombinant thromboplastin as the reagent), FVII antigen, activated FVII coagulant activity (FVIIa:C) and the free-form of tissue factor pathway inhibitor. RESULTS: None of these tests could be used as highly accurate predictors of bleeding. Nevertheless, both FVII:C and FVIIa:C differed significantly between the two clinical groups. Using ROC-curve analysis, two critical values of 8% and 3mIU/mL for FVII:C and FVIIa:C, respectively, could be proposed to discriminate between severe bleeders and non-or-mild bleeders. INTERPRETATION AND CONCLUSIONS: A highly accurate diagnostic test for predicting bleeding tendency in inherited FVII deficiency still eludes definition, highlighting the fact that factors other than FVII itself interfere with the expression of bleeding phenotypes in this condition. Nevertheless, potential critical values using sensitive FVII:C and FVIIa:C methods may be useful in clinical laboratories for FVII-deficient patients. Those patients with FVII:C levels higher than 8% FVII:C or FVIIa:C higher than 3 mIU/mL, with no other hemostatic defect, seem to have a minimal risk of severe bleeding. Extended clinical studies are needed to support these findings. (+info)
A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome. (5/38)Scott syndrome (SS) is a bleeding disorder characterized by a failure to expose phosphatidylserine (PS) to the outer leaflet of the platelet plasma membrane. Because the adenosine triphosphate (ATP)-binding cassette transporter A1 (ABCA1) is implicated in the exofacial translocation of PS, we assessed its role in the pathophysiology of a patient with SS. Substantially reduced levels of ABCA1 mRNA were found in the patient's leukocytes, compared with controls. The SS patient was heterozygous for a novel missense mutation c.6064G>A (ABCA1 R1925Q), absent from unaffected family members and controls. Both mutant and wild-type alleles were reduced in mRNA expression, and no causative mutation for this phenomenon was identified in the ABCA1 gene or its proximal promoter, suggesting a putative second mutation in a trans-acting regulatory gene may also be involved in the disorder in this patient. In vitro expression studies showed impaired trafficking of ABCA1 R1925Q to the plasma membrane. Overexpression of wild-type ABCA1 in SS lymphocytes complemented the Ca2+-dependent PS exposure at the cell surface. These data identify a mutation in ABCA1 that contributes to the defective PS translocation phenotype in our patient with SS. (+info)
Perinatal renal venous thrombosis: presenting renal length predicts outcome. (6/38)BACKGROUND: Renal venous thrombosis (RVT) is the most common form of venous thrombosis in neonates, causing both acute and long term kidney dysfunction. Historical predisposing factors include dehydration, maternal diabetes, and umbilical catheters, but recent reports highlight associations with prothrombotic abnormalities. STUDY: Twenty three patients with neonatal RVT were analysed over 15 years. Predisposing factors, presentation, and procoagulant status were compared with renal outcome using multilevel modelling. RESULTS: Median presentation was on day 1: 19/23 (83%) had pre/perinatal problems, including fetal distress (14), intrauterine growth retardation (five), and pre-identified renal abnormalities (two); 8/18 (44%) had procoagulant abnormalities, particularly factor V Leiden mutations (4/18). Long term abnormalities were detected in 28/34 (82%) affected kidneys; mean glomerular filtration rate was 93.6 versus 70.2 ml/min/1.73 m2 in unilateral versus bilateral cases (difference 23.4; 95% confidence interval 6.4 to 40.4; p = 0.01). No correlation was observed between procoagulant tendencies and outcome, but presenting renal length had a significant negative correlation: mean fall in estimated single kidney glomerular filtration rate was 3 ml/min/1.73 m2 (95% confidence interval 3.7 to -2.2; p = 0.001) per 1 mm increase, and kidneys larger than 6 cm at presentation never had a normal outcome. CONCLUSIONS: This subgroup of neonatal RVT would be better termed perinatal RVT to reflect antenatal and birth related antecedents. Prothrombotic defects should be considered in all patients with perinatal RVT. Kidney length at presentation correlated negatively with renal outcome. The latter, novel observation raises the question of whether larger organs should be treated more aggressively in future. (+info)
Compound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin K-dependent coagulation factor deficiency. (7/38)Hereditary combined vitamin K-dependent (VKD) coagulation factor deficiency is an autosomal recessive bleeding disorder associated with defects in either the gamma-carboxylase, which carboxylates VKD proteins to render them active, or the vitamin K epoxide reductase (VKORC1), which supplies the reduced vitamin K cofactor required for carboxylation. Such deficiencies are rare, and we report the fourth case resulting from mutations in the carboxylase gene, identified in a Tunisian girl who exhibited impaired function in hemostatic VKD factors that was not restored by vitamin K administration. Sequence analysis of the proposita did not identify any mutations in the VKORC1 gene but, remarkably, revealed 3 heterozygous mutations in the carboxylase gene that caused the substitutions Asp31Asn, Trp157Arg, and Thr591Lys. None of these mutations have previously been reported. Family analysis showed that Asp31Asn and Thr591Lys were coallelic and maternally transmitted while Trp157Arg was transmitted by the father, and a genomic screen of 100 healthy individuals ruled out frequent polymorphisms. Mutational analysis indicated wild-type activity for the Asp31Asn carboxylase. In contrast, the respective Trp157Arg and Thr591Lys activities were 8% and 0% that of wild-type carboxylase, and their compound heterozygosity can therefore account for functional VKD factor deficiency. The implications for carboxylase mechanism are discussed. (+info)
A novel fibrinogen variant (fibrinogen Seoul II; AalphaGln328Pro) characterized by impaired fibrin alpha-chain cross-linking. (8/38)We report a novel fibrinogen variant (fibrinogen Seoul II), which has a heterozygous point mutation from CAA to CCA leading to AalphaGln328Pro. The mutation site is among several glutamine residues that serve as alpha-chain cross-linking acceptor sites. Fibrinogen Seoul II was found in a 51-year-old male patient and his family in Seoul, Korea. The patient was diagnosed with myocardial infarction at age 43. Eight years later he was admitted to the emergency room due to recurrence of the disease, where he expired under treatment with tissue plasminogen activator (t-PA). Fibrin polymerization curves, made using purified fibrinogen from the patient's relatives, showed a decreased final turbidity, suggesting Seoul II fibrin clots are composed of thinner fibers. This supposition was verified using scanning electron microscopy. Alpha-polymer formation by the mutant fibrinogen upon thrombin treatment in the presence of factor XIII and calcium was distinctly impaired. This result confirms that the residue Aalpha328 plays a pivotal role in alpha-chain cross-linking. (+info)
There are several types of inherited blood coagulation disorders, including:
1. Hemophilia A and B: These are the most common types of inherited bleeding disorders, caused by deficiencies in clotting factor VIII or IX, respectively.
2. Von Willebrand disease: This is a mild bleeding disorder caused by a deficiency in von Willebrand factor, a protein that helps platelets stick together to form blood clots.
3. Platelet function disorders: These are rare disorders caused by mutations in genes that code for proteins involved in platelet function, leading to impaired platelet aggregation and bleeding.
4. Factor V Leiden and prothrombin gene mutations: These are inherited disorders caused by mutations in the genes that code for clotting factors V and II, respectively.
5. Antiphospholipid syndrome: This is an autoimmune disorder that causes blood clots and bleeding, often in association with other symptoms such as joint pain and swelling.
Inherited blood coagulation disorders can cause a range of symptoms, including easy bruising, petechiae (small red spots on the skin), purpura (larger red or purple spots on the skin), and prolonged bleeding after injury or surgery. Treatment options vary depending on the specific disorder and severity of symptoms, and may include clotting factor replacement therapy, medications to improve platelet function, and lifestyle modifications such as avoiding certain medications and taking precautions during surgical procedures.
Types of Blood Coagulation Disorders:
1. Hemophilia A: A genetic disorder that affects the blood's ability to clot, leading to prolonged bleeding after injury or surgery.
2. Hemophilia B: Similar to hemophilia A, but caused by a deficiency of factor IX instead of factor VIII.
3. Von Willebrand Disease (VWD): A bleeding disorder caused by a deficiency of von Willebrand factor, which is needed for blood clotting.
4. Platelet Disorders: These include conditions such as low platelet count (thrombocytopenia) or abnormal platelet function, which can increase the risk of bleeding.
5. Coagulopathy: A general term for any disorder that affects the body's blood coagulation process.
Symptoms and Diagnosis:
Blood coagulation disorders can cause a range of symptoms, including easy bruising, frequent nosebleeds, and prolonged bleeding after injury or surgery. Diagnosis is typically made through a combination of physical examination, medical history, and laboratory tests such as blood clotting factor assays and platelet function tests.
Treatment and Management:
Treatment for blood coagulation disorders depends on the specific condition and its severity. Some common treatments include:
1. Infusions of clotting factor concentrates to replace missing or deficient factors.
2. Desmopressin, a medication that stimulates the release of von Willebrand factor and platelets.
3. Platelet transfusions to increase platelet count.
4. Anticoagulation therapy to prevent blood clots from forming.
5. Surgery to repair damaged blood vessels or joints.
Prevention and Prognosis:
Prevention of blood coagulation disorders is often challenging, but some steps can be taken to reduce the risk of developing these conditions. These include:
1. Avoiding trauma or injury that can cause bleeding.
2. Managing underlying medical conditions such as liver disease, vitamin deficiencies, and autoimmune disorders.
3. Avoiding medications that can interfere with blood clotting.
The prognosis for blood coagulation disorders varies depending on the specific condition and its severity. Some conditions, such as mild hemophilia A, may have a good prognosis with appropriate treatment, while others, such as severe hemophilia B, can have a poor prognosis without proper management.
Complications and Comorbidities:
Blood coagulation disorders can lead to a range of complications and comorbidities, including:
1. Joint damage and chronic pain due to repeated bleeding into joints.
2. Infection and sepsis from bacteria entering the body through bleeding sites.
3. Arthritis and other inflammatory conditions.
4. Nerve damage and neuropathy from bleeding into nerve tissue.
5. Increased risk of bleeding during surgery or trauma.
6. Emotional and social challenges due to the impact of the condition on daily life.
7. Financial burden of treatment and management costs.
8. Impaired quality of life, including reduced mobility and activity levels.
9. Increased risk of blood clots and thromboembolic events.
10. Psychological distress and anxiety related to the condition.
Blood coagulation disorders are a group of rare and complex conditions that can significantly impact quality of life, productivity, and longevity. These disorders can be caused by genetic or acquired factors and can lead to a range of complications and comorbidities. Diagnosis is often challenging, but prompt recognition and appropriate treatment can improve outcomes. Management strategies include replacing missing clotting factors, using blood products, and managing underlying conditions. While the prognosis varies depending on the specific condition and its severity, early diagnosis and effective management can improve quality of life and reduce the risk of complications.
In DIC, the body's normal blood coagulation mechanisms become overactive and begin to form clots throughout the circulatory system, including in small blood vessels and organs. This can cause a range of symptoms, including bleeding, fever, and organ failure.
DIC is often seen in sepsis, which is a severe infection that has spread throughout the body. It can also be caused by other conditions such as trauma, cancer, and autoimmune disorders.
Treatment of DIC typically involves addressing the underlying cause, such as treating an infection or injury, as well as supporting the body's natural clotting mechanisms and preventing further bleeding. In severe cases, hospitalization and intensive care may be necessary to monitor and treat the condition.
In summary, Disseminated Intravascular Coagulation (DIC) is a serious medical condition that can cause widespread clotting and damage to the body's organs and tissues. It is often seen in sepsis and other severe conditions, and treatment typically involves addressing the underlying cause and supporting the body's natural clotting mechanisms.
There are several types of hemorrhagic disorders, including:
1. Hemophilia: A genetic disorder that affects the blood's ability to clot and stop bleeding. People with hemophilia may experience spontaneous bleeding or bleeding after injury or surgery.
2. von Willebrand disease: A mild bleeding disorder caused by a deficiency of a protein called von Willebrand factor, which is important for blood clotting.
3. Platelet disorders: Disorders that affect the platelets, such as thrombocytopenia (low platelet count) or thrombocytosis (high platelet count).
4. Bleeding and clotting disorders caused by medications or drugs.
5. Hemorrhagic stroke: A type of stroke that is caused by bleeding in the brain.
6. Gastrointestinal bleeding: Bleeding in the digestive tract, which can be caused by a variety of factors such as ulcers, inflammation, or tumors.
7. Pulmonary hemorrhage: Bleeding in the lungs, which can be caused by a variety of factors such as pneumonia, injury, or tumors.
8. Retinal hemorrhage: Bleeding in the blood vessels of the retina, which can be caused by high blood pressure, diabetes, or other eye disorders.
Symptoms of hemorrhagic disorders can vary depending on the specific condition and the location of the bleeding. Common symptoms include bruising, petechiae (small red spots on the skin), nosebleeds, gum bleeding, and heavy menstrual periods. Treatment for hemorrhagic disorders depends on the underlying cause and may include medications, blood transfusions, or surgery.
Symptoms of hemophilia A can include spontaneous bleeding, easy bruising, and prolonged bleeding after injury or surgery. Treatment typically involves replacing the missing factor VIII with infusions of clotting factor concentrate, which helps to restore the blood's ability to clot and stop bleeding. Regular infusions are often needed to prevent bleeding episodes, and patients with severe hemophilia A may require lifelong treatment.
Complications of hemophilia A can include joint damage, muscle weakness, and chronic pain. In severe cases, the condition can also increase the risk of bleeding in the brain or other internal organs, which can be life-threatening. However, with proper treatment and management, most patients with hemophilia A can lead active and relatively normal lives.
It is important to note that there is no cure for hemophilia A, but advances in medical technology and treatment have significantly improved the quality of life for many patients with the condition.
Factor X deficiency can be inherited or acquired, and it can have mild to severe effects on the body. People with factor X deficiency may experience prolonged bleeding after an injury or surgery, easy bruising, and frequent nosebleeds. In severe cases, factor X deficiency can lead to spontaneous bleeding, especially in the joints and internal organs.
There are two types of factor X deficiency:
1. Classic factor X deficiency: This is the most common type of factor X deficiency and is caused by a mutation in the gene that codes for factor X. It is usually inherited in an autosomal recessive pattern, which means that the child must inherit two copies of the mutated gene, one from each parent, to develop the condition.
2. Acquired factor X deficiency: This type of factor X deficiency can occur due to certain medical conditions, such as liver disease, vitamin K deficiency, or exposure to certain medications. It can also occur in people who have a high risk of bleeding, such as those with hemophilia.
Treatment for factor X deficiency typically involves replacing the missing clotting factor through infusions of factor X concentrate. In some cases, medications that help the body produce more factor X may also be used. People with factor X deficiency may need to receive regular infusions to maintain adequate levels of factor X in their blood.
Overall, factor X deficiency is a rare but potentially serious condition that can affect the body's ability to form blood clots and stop bleeding. With proper diagnosis and treatment, however, most people with factor X deficiency can lead normal lives.
People with factor V deficiency may experience spontaneous bleeding or bruising, especially during childhood. The symptoms can range from mild to severe and may include:
1. Easy bruising
3. Bleeding gums
4. Heavy menstrual periods
5. Prolonged bleeding after injuries or surgery
6. Intestinal bleeding
7. Bleeding in the joints
Factor V deficiency is caused by a genetic mutation that affects the production of factor V protein. The disorder can be inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause symptoms. In some cases, the disorder may be caused by a mutation in both copies of the gene, leading to more severe symptoms.
There is no cure for factor V deficiency, but treatment options are available to manage the symptoms. These may include:
1. Desmopressin, a medication that stimulates the release of von Willebrand factor, which helps to improve clotting.
2. Fresh frozen plasma or cryoprecipitate, which contain factors V and VIII, can be given intravenously to replace missing clotting factors.
3. Surgical intervention may be necessary in some cases, such as when bleeding is severe or persistent.
4. Lifestyle modifications, such as avoiding contact sports and taking precautions to prevent injuries, can also help manage the condition.
Early diagnosis and treatment of factor V deficiency are crucial to prevent complications and improve quality of life. If you suspect you or your child may have factor V deficiency, consult a healthcare professional for proper evaluation and management.
Example sentence: The patient had a hemorrhage after the car accident and needed immediate medical attention.
1. Injury to blood vessels during surgery
2. Poor suturing or stapling techniques
3. Bleeding disorders or use of anticoagulant medications
4. Infection or hematoma (a collection of blood outside the blood vessels)
5. Delayed recovery of blood clotting function
Postoperative hemorrhage can range from mild to severe and life-threatening. Mild bleeding may present as oozing or trickling of blood from the surgical site, while severe bleeding can lead to hypovolemic shock, organ failure, and even death.
To diagnose postoperative hemorrhage, a physical examination and medical history are usually sufficient. Imaging studies such as ultrasound, computed tomography (CT) or magnetic resonance imaging (MRI) may be ordered to evaluate the extent of bleeding and identify any underlying causes.
Treatment of postoperative hemorrhage depends on the severity and location of the bleeding. Mild bleeding may be managed with dressings, compression bandages, and elevation of the affected limb. Severe bleeding may require interventions such as:
1. Surgical exploration to locate and control the source of bleeding
2. Transfusion of blood products or fresh frozen plasma to restore clotting function
3. Use of vasopressors to raise blood pressure and perfuse vital organs
4. Hemostatic agents such as clotting factors, fibrin sealants, or hemostatic powder to promote clot formation
5. In some cases, surgical intervention may be required to repair damaged blood vessels or organs.
Prevention of postoperative hemorrhage is crucial in reducing the risk of complications and improving patient outcomes. Preventive measures include:
1. Proper preoperative evaluation and preparation, including assessment of bleeding risk factors
2. Use of appropriate anesthesia and surgical techniques to minimize tissue trauma
3. Conservative use of hemostatic agents and blood products during surgery
4. Closure of all bleeding sites before completion of the procedure
5. Monitoring of vital signs, including pulse rate and blood pressure, during and after surgery
6. Preoperative and postoperative management of underlying conditions such as hypertension, diabetes, and coagulopathies.
Early recognition and prompt intervention are critical in effectively managing postoperative hemorrhage. In cases of severe bleeding, timely and appropriate interventions can reduce the risk of complications and improve patient outcomes.
Bipolar Disorder Types:
There are several types of bipolar disorder, including:
1. Bipolar I Disorder: One or more manic episodes with or without depressive episodes.
2. Bipolar II Disorder: At least one major depressive episode and one hypomanic episode (a less severe form of mania).
3. Cyclothymic Disorder: Periods of hypomania and depression that last at least 2 years.
4. Other Specified Bipolar and Related Disorders: Symptoms that do not meet the criteria for any of the above types.
5. Unspecified Bipolar and Related Disorders: Symptoms that do not meet the criteria for any of the above types, but there is still a noticeable impact on daily life.
Bipolar Disorder Causes:
The exact cause of bipolar disorder is unknown, but it is believed to involve a combination of genetic, environmental, and neurobiological factors. Some potential causes include:
1. Genetics: Individuals with a family history of bipolar disorder are more likely to develop the condition.
2. Brain structure and function: Imbalances in neurotransmitters and abnormalities in brain structure have been found in individuals with bipolar disorder.
3. Hormonal imbalances: Imbalances in hormones such as serotonin, dopamine, and cortisol have been linked to bipolar disorder.
4. Life events: Traumatic events or significant changes in life circumstances can trigger episodes of mania or depression.
5. Medical conditions: Certain medical conditions, such as multiple sclerosis or stroke, can increase the risk of developing bipolar disorder.
Bipolar Disorder Symptoms:
The symptoms of bipolar disorder can vary depending on the individual and the specific type of episode they are experiencing. Some common symptoms include:
1. Manic episodes: Increased energy, reduced need for sleep, impulsivity, and grandiosity.
2. Depressive episodes: Feelings of sadness, hopelessness, and loss of interest in activities.
3. Mixed episodes: A combination of manic and depressive symptoms.
4. Hypomanic episodes: Less severe than full-blown mania, but still disrupt daily life.
5. Rapid cycling: Experiencing four or more episodes within a year.
6. Melancholic features: Feeling sad, hopeless, and worthless.
7. Atypical features: Experiencing mania without elevated mood or grandiosity.
8. Mood instability: Rapid changes in mood throughout the day.
9. Anxiety symptoms: Restlessness, feeling on edge, and difficulty concentrating.
10. Sleep disturbances: Difficulty falling or staying asleep, or oversleeping.
11. Substance abuse: Using drugs or alcohol to cope with symptoms.
12. Suicidal thoughts or behaviors: Having thoughts of harming oneself or taking actions that could lead to death.
It's important to note that not everyone with bipolar disorder will experience all of these symptoms, and some people may experience additional symptoms not listed here. Additionally, the severity and frequency of symptoms can vary widely between individuals.
Factor XI is one of the proteins in the extrinsic coagulation pathway, which is activated when there is an injury to the blood vessel wall. It helps to convert prothrombin into thrombin, which then forms fibrin clots that stop the bleeding. When there is a factor XI deficiency, the body may have difficulty forming clots and stopping bleeding, leading to prolonged or spontaneous bleeding episodes.
Factor XI deficiency can be inherited or acquired, and it affects both males and females equally. Inherited forms of the disorder are caused by mutations in the F11 gene, which encodes factor XI. Acquired forms can result from autoimmune destruction of factor XI, vitamin K deficiency, or liver disease.
Symptoms of factor XI deficiency may include easy bruising, petechiae (small red or purple spots on the skin), prolonged bleeding after injury or surgery, and gastrointestinal bleeding. Treatment options for factor XI deficiency include replacement therapy with factor XI concentrate, desmopressin (a synthetic analog of the hormone vasopressin that stimulates the release of factor VIII and von Willebrand factor), or platelet transfusions. In severe cases, liver transplantation may be necessary.
Prevention of bleeding episodes is key in managing factor XI deficiency. This includes avoiding strenuous activities, taking medications that help to prevent blood thinning, and seeking medical attention immediately if bleeding occurs. With proper management and treatment, individuals with factor XI deficiency can lead normal lives and minimize the risk of complications.
Some common types of mental disorders include:
1. Anxiety disorders: These conditions cause excessive worry, fear, or anxiety that interferes with daily life. Examples include generalized anxiety disorder, panic disorder, and social anxiety disorder.
2. Mood disorders: These conditions affect a person's mood, causing feelings of sadness, hopelessness, or anger that persist for weeks or months. Examples include depression, bipolar disorder, and seasonal affective disorder.
3. Personality disorders: These conditions involve patterns of thought and behavior that deviate from the norm of the average person. Examples include borderline personality disorder, narcissistic personality disorder, and antisocial personality disorder.
4. Psychotic disorders: These conditions cause a person to lose touch with reality, resulting in delusions, hallucinations, or disorganized thinking. Examples include schizophrenia, schizoaffective disorder, and brief psychotic disorder.
5. Trauma and stressor-related disorders: These conditions develop after a person experiences a traumatic event, such as post-traumatic stress disorder (PTSD).
6. Dissociative disorders: These conditions involve a disconnection or separation from one's body, thoughts, or emotions. Examples include dissociative identity disorder (formerly known as multiple personality disorder) and depersonalization disorder.
7. Neurodevelopmental disorders: These conditions affect the development of the brain and nervous system, leading to symptoms such as difficulty with social interaction, communication, and repetitive behaviors. Examples include autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), and Rett syndrome.
Mental disorders can be diagnosed by a mental health professional using the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), which provides criteria for each condition. Treatment typically involves a combination of medication and therapy, such as cognitive-behavioral therapy or psychodynamic therapy, depending on the specific disorder and individual needs.
Factor XII deficiency can be acquired or inherited. Acquired factor XII deficiency can occur due to autoantibodies, liver disease, or vitamin K deficiency. Inherited factor XII deficiency is caused by mutations in the F12 gene, which is responsible for producing factor XII.
People with factor XII deficiency may experience recurring bleeding episodes, especially after injury or surgery. The bleeding can be severe and may occur spontaneously without any apparent cause. Other symptoms include easy bruising, petechiae (small red or purple spots on the skin), and nosebleeds.
Factor XII deficiency is diagnosed through blood tests that measure the levels of factor XII in the blood. A low level of factor XII indicates a deficiency. Other tests, such as a platelet aggregation test or a bleeding time test, may also be performed to assess the severity of the condition.
Treatment for factor XII deficiency typically involves replacing the missing factor XII with infusions of the protein. This can be done on an as-needed basis or regularly, depending on the severity of the condition. Desmopressin, a hormone that stimulates the release of von Willebrand factor and platelets, may also be used to treat mild cases of factor XII deficiency. In severe cases, surgery may be necessary to repair damaged blood vessels or organs.
The prognosis for factor XII deficiency is generally good if the condition is properly treated. With regular infusions of factor XII and proper management, most people with the condition can lead normal lives and avoid complications. However, untreated factor XII deficiency can lead to serious complications, such as bleeding or organ damage, which can be life-threatening.
There are no specific lifestyle changes that can cure factor XII deficiency, but certain lifestyle modifications may help manage the condition. These include avoiding activities that could trigger bleeding, taking regular breaks to rest and elevate the affected limb, and avoiding alcohol and other drugs that can exacerbate the condition.
There are no alternative treatments for factor XII deficiency, as infusions of the protein are the only effective way to manage the condition. However, some complementary therapies, such as acupuncture or herbal supplements, may help reduce symptoms and improve quality of life.
Factor XII deficiency cannot be prevented, as it is an inherited condition. However, early diagnosis and proper management can help prevent complications and ensure a good prognosis. Pregnant women with a history of factor XII deficiency should receive regular prenatal care to monitor the health of their baby.
Living With Factor XII Deficiency:
Living with factor XII deficiency can be challenging, as it can impact daily life and increase the risk of bleeding. However, with proper management and support, people with this condition can lead fulfilling lives. It is essential to work closely with a healthcare provider to develop a personalized treatment plan and make necessary lifestyle adjustments.
The prognosis for factor XII deficiency is generally good if the condition is properly managed. With regular infusions of the protein, most people with this condition can lead normal lives and avoid serious complications. However, in some cases, the condition may progress to more severe bleeding episodes or other complications, which can be life-threatening.
In conclusion, factor XII deficiency is a rare genetic disorder that can cause excessive bleeding due to a lack of a critical blood clotting protein. While there is no cure for the condition, infusions of the protein can help manage symptoms and prevent complications. Early diagnosis and proper management are essential to ensure a good prognosis and improve quality of life for those affected by this condition.
Some common types of anxiety disorders include:
1. Generalized Anxiety Disorder (GAD): Excessive and persistent worry about everyday things, even when there is no apparent reason to be concerned.
2. Panic Disorder: Recurring panic attacks, which are sudden feelings of intense fear or anxiety that can occur at any time, even when there is no obvious trigger.
3. Social Anxiety Disorder (SAD): Excessive and persistent fear of social or performance situations in which the individual is exposed to possible scrutiny by others.
4. Specific Phobias: Persistent and excessive fear of a specific object, situation, or activity that is out of proportion to the actual danger posed.
5. Obsessive-Compulsive Disorder (OCD): Recurring, intrusive thoughts (obsessions) and repetitive behaviors (compulsions) that are distressing and disruptive to daily life.
6. Post-Traumatic Stress Disorder (PTSD): Persistent symptoms of anxiety, fear, and avoidance after experiencing a traumatic event.
Anxiety disorders can be treated with a combination of psychotherapy, medication, or both, depending on the specific diagnosis and severity of symptoms. With appropriate treatment, many people with anxiety disorders are able to manage their symptoms and improve their quality of life.
There are several types of mood disorders, including:
1. Major Depressive Disorder (MDD): This is a condition characterized by persistent feelings of sadness, hopelessness, and a loss of interest in activities that were once enjoyed. It can also involve changes in appetite, sleep patterns, and energy levels.
2. Bipolar Disorder: This is a condition that involves periods of mania or hypomania (elevated mood) alternating with episodes of depression.
3. Persistent Depressive Disorder (PDD): This is a condition characterized by persistent low mood, lasting for two years or more. It can also involve changes in appetite, sleep patterns, and energy levels.
4. Postpartum Depression (PPD): This is a condition that occurs in some women after childbirth, characterized by feelings of sadness, anxiety, and a lack of interest in activities.
5. Seasonal Affective Disorder (SAD): This is a condition that occurs during the winter months, when there is less sunlight. It is characterized by feelings of sadness, lethargy, and a lack of energy.
6. Anxious Distress: This is a condition characterized by excessive worry, fear, and anxiety that interferes with daily life.
7. Adjustment Disorder: This is a condition that occurs when an individual experiences a significant change or stressor in their life, such as the loss of a loved one or a job change. It is characterized by feelings of sadness, anxiety, and a lack of interest in activities.
8. Premenstrual Dysphoric Disorder (PMDD): This is a condition that occurs in some women during the premenstrual phase of their menstrual cycle, characterized by feelings of sadness, anxiety, and a lack of energy.
Mood disorders can be treated with a combination of medication and therapy. Antidepressant medications, such as selective serotonin reuptake inhibitors (SSRIs) and serotonin-norepinephrine reuptake inhibitors (SNRIs), are commonly used to treat mood disorders. These medications can help relieve symptoms of depression and anxiety by altering the levels of neurotransmitters in the brain.
Therapy, such as cognitive-behavioral therapy (CBT) and interpersonal therapy (IPT), can also be effective in treating mood disorders. CBT helps individuals identify and change negative thought patterns and behaviors that contribute to their depression, while IPT focuses on improving communication skills and relationships with others.
In addition to medication and therapy, lifestyle changes such as regular exercise, healthy eating, and getting enough sleep can also be helpful in managing mood disorders. Support from family and friends, as well as self-care activities such as meditation and relaxation techniques, can also be beneficial.
It is important to seek professional help if symptoms of depression or anxiety persist or worsen over time. With appropriate treatment, individuals with mood disorders can experience significant improvement in their symptoms and overall quality of life.
There are several types of thrombosis, including:
1. Deep vein thrombosis (DVT): A clot forms in the deep veins of the legs, which can cause swelling, pain, and skin discoloration.
2. Pulmonary embolism (PE): A clot breaks loose from another location in the body and travels to the lungs, where it can cause shortness of breath, chest pain, and coughing up blood.
3. Cerebral thrombosis: A clot forms in the brain, which can cause stroke or mini-stroke symptoms such as weakness, numbness, or difficulty speaking.
4. Coronary thrombosis: A clot forms in the coronary arteries, which supply blood to the heart muscle, leading to a heart attack.
5. Renal thrombosis: A clot forms in the kidneys, which can cause kidney damage or failure.
The symptoms of thrombosis can vary depending on the location and size of the clot. Some common symptoms include:
1. Swelling or redness in the affected limb
2. Pain or tenderness in the affected area
3. Warmth or discoloration of the skin
4. Shortness of breath or chest pain if the clot has traveled to the lungs
5. Weakness, numbness, or difficulty speaking if the clot has formed in the brain
6. Rapid heart rate or irregular heartbeat
7. Feeling of anxiety or panic
Treatment for thrombosis usually involves medications to dissolve the clot and prevent new ones from forming. In some cases, surgery may be necessary to remove the clot or repair the damaged blood vessel. Prevention measures include maintaining a healthy weight, exercising regularly, avoiding long periods of immobility, and managing chronic conditions such as high blood pressure and diabetes.
List of MeSH codes (C15)
Factor I deficiency
Factor X deficiency
Factor VII deficiency
Blood vessel disorder
Factor XII deficiency
Fresh frozen plasma
Microangiopathic hemolytic anemia
Coagulation factor VII
List of skin conditions
Acute fatty liver of pregnancy
List of OMIM disorder codes
Deep vein thrombosis
Antithrombin III deficiency
Split gene theory
Renal vein thrombosis
Glycogen storage disease type I
Von Willebrand disease
Activated protein C resistance
Factor V Leiden
Clinical Trials : Blood Coagulation Disorders, Inherited
Subjects: Blood Coagulation Disorders, Inherited - Digital Collections - National Library of Medicine Search Results
Safety and Efficacy of NNC-0156-0000-0009 in Haemophilia B Patients - Full Text View - ClinicalTrials.gov
Bridging the gap: Survey highlights challenges and solutions in outreach and identification of people with inherited bleeding...
Bridging the gap: Survey highlights challenges and solutions in outreach and identification of people with inherited bleeding...
Advanced Search Results - Public Health Image Library(PHIL)
Protein S blood test: MedlinePlus Medical Encyclopedia
Factor XII Deficiency | Profiles RNS
Portal Regional da BVS
Blood Clotting Disorders - What Are Blood Clotting Disorders? | NHLBI, NIH
DailyMed - RIXUBIS (coagulation factor ix- recombinant kit
Search | VHL CLAP/WR-PAHO/WHO
MedlinePlus - Search Results for: Coagulation Factor IX Human OR COAGULATION FACTOR IX HUMAN OR Water
Details for: Inherited blood clotting disorders : › WHO HQ Library catalog
Bleeding and Blood Disorders in Clients of Voluntary Medical Male Circumcision for HIV Prevention - Eastern and Southern Africa...
Hemophilia A | Palmetto Profiles
NCIt Code NCIt PT Subset PT Subset SY NCIt Definition Subset Definition NCIt Code of First Parent First Parent NCIt Code of...
Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction...
Osteogenesis Imperfecta | Harvard Catalyst Profiles | Harvard Catalyst
Trusted Clinical Perspectives | Mednet.ca
RFA-HL-17-012: Small Market Awards: SBIR Phase IIB Competing Renewals for Heart, Lung, Blood, and Sleep Technologies with Small...
Publication: New insights into the biology of tissue factor pathway inhibitor.
- The inherited deficiency of factor VII (FVII), the crucial enzyme triggering blood coagulation, 1 is the most common of the rare coagulation disorders transmitted in an autosomal recessive manner. (haematologica.org)
- C36292 Laboratory Test Result C90259 Pediatric Terminology C C26770 Hereditary Factor XII Deficiency Hereditary Factor XII Deficiency Disease A rare autosomal recessive inherited bleeding disorder caused by deficiency of coagulation factor XII. (nih.gov)
- Coagulation factor VII deficiency is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. (pawprintgenetics.com)
- C98942 Hereditary Coagulation Factor Deficiency C90259 Pediatric Terminology C C84705 Hereditary Factor XI Deficiency Hereditary Factor XI Deficiency Disease A rare inherited bleeding disorder caused by deficiency of coagulation factor XI. (nih.gov)
- Donner J, Kaukonen M, Anderson H, Moller F, Kyostila K, Sankari S, Hytonen M, Giger U, Lohi H. Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. (pawprintgenetics.com)
- Withnall E, Giger U. Effects of recombinant human activated factor VII and canine fresh frozen plasma in Beagles with hereditary coagulation factor VII deficiency. (pawprintgenetics.com)
- Hemophilia A is a hereditary disease in which a person's blood does not clot normally, leading to prolonged bleeding episodes. (marijuanadoctors.com)
- Hemophilia is an inherited bleeding disorder in which the blood does not clot properly. (nih.gov)
- This health topic focuses on bleeding disorders that are caused by problems with clotting factors, including hemophilia and von Willebrand disease. (nih.gov)
- Knowledge of the anticoagulant mechanisms and tissue expression patterns of TFPIα and TFPIβ have improved our understanding of the phenotypes observed in different mouse models of TFPI deficiency, the east Texas bleeding disorder, and the development of pharmaceutical agents that block TFPI function to treat hemophilia. (nih.gov)
- Hemophilia B , a deficiency of coagulation factor IX (FIX) is also known as Christmas disease. (wordpress.com)
- Hemophilia is an inherited, potentially life-threatening disorder affecting an estimated 20,000 Americans, almost all of them males. (wordpress.com)
- A sample of his blood was sent to the Oxford Hemophilia Centre where it was discovered that he was not deficient in Factor VIII , which is normally decreased in classic hemophilia A, but a different protein, which received the name Christmas factor in his honor (and later Factor IX ). (wordpress.com)
- Nevertheless this gene therapy trial for hemophilia B is truly a landmark study, since it is the first to achieve long-term expression of a blood protein at therapeutically relevant levels. (wordpress.com)
- If further studies determine that this approach is safe, it may not only replace the cumbersome and expensive protein therapy currently used for patients with hemophilia B, but also translate into applications for other disorders, such as alpha 1 -antitrypsin deficiency , and hyperlipidemias . (wordpress.com)
- Ninety percent of inherited bleeding disorders are due to Von Willebrand disease, hemophilia A and B carriers, factor XI deficiency, and idiopathic thrombocytopenic purpura. (springeropen.com)
- Patients with the diagnosis of hemophilia or other bleeding and clotting disorders are managed using the comprehensive care model which comprises medical, psychological, and educational components. (childrensdayton.org)
- Hemophilia is a rare, inherited bleeding disorder, often diagnosed during the first year of life and most often affects males. (childrensdayton.org)
- Children with hemophilia lack "clotting factor," a component in their blood that causes clotting. (childrensdayton.org)
- Hemophilia is a rare disorder in which the blood doesn't clot in the typical way because it doesn't have enough blood-clotting proteins (clotting factors). (mayoclinic.org)
- If you have hemophilia, you might bleed for a longer time after an injury than you would if your blood clotted properly. (mayoclinic.org)
- Hemophilia is almost always a genetic disorder. (mayoclinic.org)
- Hemophilia is usually inherited, meaning a person is born with the disorder (congenital). (mayoclinic.org)
- Some people develop hemophilia with no family history of the disorder. (mayoclinic.org)
- Acquired hemophilia is a variety of the condition that occurs when a person's immune system attacks clotting factor 8 or 9 in the blood. (mayoclinic.org)
- The biggest risk factor for hemophilia is to have family members who also have the disorder. (mayoclinic.org)
- Pain treatment for hemophilia A is limited, as over-the-counter painkillers are dangerous for those with blood clotting disorders. (marijuanadoctors.com)
- Hemophilia is a genetic bleeding disorder caused by a lack of clotting proteins in the blood. (marijuanadoctors.com)
- There are two main types of hemophilia: hemophilia A and hemophilia B. Each type is associated with a deficiency of a different protein in the blood. (marijuanadoctors.com)
- Patients suffering from hemophilia A are deficient in a protein called factor VIII, which plays a crucial role in the process that causes blood to clot, called the coagulation cascade. (marijuanadoctors.com)
- Women have two X-chromosomes, meaning they will only experience symptoms of hemophilia A if they inherit the disease from both their mother and father. (marijuanadoctors.com)
- Women who inherit just one X-chromosome with hemophilia A are called "carriers. (marijuanadoctors.com)
- These women will not experience symptoms of hemophilia A, because they have a second healthy X-chromosome that can produce enough factor XIII to prevent them from experiencing blood clotting issues. (marijuanadoctors.com)
- However, if a carrier of hemophilia A has a son, that son has a 50 percent chance of inheriting the disease. (marijuanadoctors.com)
- If a carrier of hemophilia A has a son, there is a 50 percent chance her son will have hemophilia A. If a woman carrying hemophilia A has a daughter, that daughter will only have the disease if she also inherits a second X-chromosome carrying hemophilia A from her father. (marijuanadoctors.com)
- It is most common for people to inherit hemophilia A. However, in one out of three cases, hemophilia A occurs because of a random mutation that changes a person's genes before they are born. (marijuanadoctors.com)
- Severe cases of hemophilia A are cases in which the patient has less than 1 percent the normal amount of factor VIII in their blood. (marijuanadoctors.com)
- World Hemophilia Day is celebrated on 17th April every year, seeking to improve awareness of hemophilia and other inherited bleeding disorders. (drsheetusingh.com)
- The World Federation of Hemophilia (WFH) is an international non-profit organization that is dedicated to improving the lives of people with hemophilia and other inherited bleeding disorders. (drsheetusingh.com)
- The WFH works to improve diagnosis, treatment, and care for people with hemophilia and other bleeding disorders through a range of programs and initiatives. (drsheetusingh.com)
- The WFH organizes World Hemophilia Day, which is celebrated annually on April 17 to raise awareness about bleeding disorders and the challenges faced by people living with them. (drsheetusingh.com)
- Hemophilia is a genetic disorder that affects the body's ability to clot blood properly. (drsheetusingh.com)
- People with hemophilia have low levels of certain clotting factors, which are proteins in the blood that help control bleeding. (drsheetusingh.com)
- Hemophilia is typically diagnosed in childhood, and symptoms can range from mild to severe depending on the level of clotting factor present in the blood. (drsheetusingh.com)
- Treatment for hemophilia typically involves replacing the clotting factors that are missing or not working properly in the blood. (drsheetusingh.com)
- Hemophilia is a rare blood disorder wherein normal blood clotting does not occur due to absence or insufficient amount of clotting proteins in the individual's blood. (medgadget.com)
- Amy Shapiro, MD, is the CEO and co-medical director at the Indiana Hemophilia & Thrombosis Center, Inc. She is also Adjunct Senior Investigator, Blood Center of Wisconsin and Adjunct Professor of Pediatrics, Michigan State University. (ihtc.org)
- 80% of cases), trauma (lacerations or genital tract trauma), tissue (retained placenta), thrombin (abnormalities of coagulation), and turned inside out (uterine inversion). (springeropen.com)
- Bleeding abnormalities (coagulopathies) in dogs can occur for a variety of reasons: Infection, organ failure, toxins-or they can be caused by an inherited abnormality in the coagulation pathway. (embarkvet.com)
Proteins in the b1
- Clotting factors, also called coagulation factors, are proteins in the blood that work with small cells, called platelets, to form blood clots. (nih.gov)
- Among the 19 bleeding adverse events reported, seven occurred in clients who were later confirmed to have a bleeding disorder or nonspecific/other hematologic abnormality. (cdc.gov)
- Factor V Leiden is the most common inherited abnormality that leads to an increased tendency for thrombosis. (ihtc.org)
- This negative surface provides binding sites for enzymes and cofactors of the coagulation system, resulting in the formation of a clot (secondary hemostasis). (medscape.com)
- Platelet disorders lead to defects in primary hemostasis and produce signs and symptoms different from coagulation factor deficiencies (disorders of secondary hemostasis). (medscape.com)
Deep vein throm3
- Therefore increased FDPs or D-dimers are indicators to screen the presence of disseminated intravascular coagulation - DIC, deep vein thrombosis - DVT, Pulmonary Embolism - PE. (rtdiagnostics.net)
- In fact, emboli (clots that break off and are brought by the blood into a smaller vessel where they may obstruct the circulation) from a deep vein thrombosis are a leading cause of death in hospitalized patients. (ihtc.org)
- Nearly 40% of patients with deep vein thrombosis experience a pulmonary embolism (a clot that travels to the lung and obstructs blood flow to the pulmonary tissue that can impair function). (ihtc.org)
1,125,000 men worldwide2
- The meta-analysis revealed that the inherited bleeding disorder affects over 1,125,000 men worldwide, with 418,000 suffering from a severe form of the disease that often goes undiagnosed. (drsheetusingh.com)
- According to a study led by Canada's McMaster University, more than 1,125,000 men worldwide suffer from this inherited affliction. (medgadget.com)
- Idiopathic hypoparathyroidism is an uncommon sporadic or inherited condition in which the parathyroid glands are absent or atrophied. (merckmanuals.com)
- Fibrinogen Deficiency A usually inherited blood coagulation disorder characterized by the partial or complete absence of fibrinogen in the blood, resulting in bleeding. (nih.gov)
- On the other hand, molecular genetic studies combined with functional assays and recombinant expression investigations, detailing the residual FVII levels associated with F7 gene mutations, have clearly helped define genotype and coagulation and clinical phenotype relationships, 5 3 with implications for diagnosis, prognosis and counseling. (haematologica.org)
- Under physiological circumstances, the resistance of the endothelial cell lining to interactions with platelets and coagulation factors prevents thrombosis. (medscape.com)
- The development of a blood clot is called thrombosis. (ihtc.org)
- People who experience episodes of thrombosis, either as an isolated event or as a repeated event, may be affected by an underlying thrombophilic disorder. (ihtc.org)
- Some individuals have an inherited condition, such as factor V Leiden or activated protein C resistance, that leads to an increased tendency for thrombosis, but they may never experience a blood clot. (ihtc.org)
- Thrombosis may manifest itself as the formation or presence of a blood clot in a blood vessel or in one of the chambers of the heart. (ihtc.org)
- Rare causes include inherited platelet disorders (Bernard-Soulier syndrome, Glanzmann thrombasthenia) (Abdul-Kadir et al. (springeropen.com)
- Protein S is a normal substance in your body that prevents blood clotting. (medlineplus.gov)
- Protein S helps control blood clotting. (medlineplus.gov)
- Blood clotting disorders are problems in the body's ability to control how the blood clots. (nih.gov)
- If you have a clotting disorder, your blood may not clot enough, which can lead to too much bleeding, or your blood may form clots even without an injury. (nih.gov)
- This topic focuses on clotting disorders that happen when your blood clots more often than it should. (nih.gov)
- Blood clotting disorders are sometimes called coagulation disorders or thrombophilias. (nih.gov)
- For example, antiphospholipid syndrome (APS) and disseminated intravascular coagulation (DIC) are types of acquired blood clotting disorders. (nih.gov)
- If you think you may have a blood clotting disorder, your doctor will ask about your family and medical history. (nih.gov)
- Learn more about the types, symptoms, diagnosis and treatment of blood clotting disorders. (nih.gov)
- Book traversal links for What Are Blood Clotting Disorders? (nih.gov)
- To diagnose and/or to monitor certain types of bleeding and clotting disorders. (brighamandwomens.org)
- To evaluate bleeding and clotting disorders and to monitor anticoagulation (anticlotting) therapies. (brighamandwomens.org)
- Bleeding disorders affect the way the body controls blood clotting. (nih.gov)
- Any problem that affects the function or number of clotting factors or platelets can lead to a bleeding disorder. (nih.gov)
- Depending on the type of bleeding disorder you have, your provider may recommend medicines or clotting factor replacement therapy to treat your condition . (nih.gov)
- Factor VII is an essential protein needed for normal blood clotting. (pawprintgenetics.com)
- Most dogs with this condition will have a normal lifespan despite increased blood clotting times. (pawprintgenetics.com)
- Past gene therapy experiments improved blood-clotting for only a few weeks. (wordpress.com)
- Dayton Children's provides comprehensive, coordinated, multidisciplinary care, and case management services for over 600 patients with bleeding and clotting disorders. (childrensdayton.org)
- It can be mild, moderate or severe, depending on how much clotting factor is in the patient's blood. (childrensdayton.org)
- Haemophilia is caused by a mutation or change, in one of the genes, that provides instructions for manufacturing the clotting factor proteins needed to generate a blood clot. (drsheetusingh.com)
- Derived from human plasma, prothrombin complex concentrate (PCC) is a specialized medication therapy comprising of different blood clotting factors. (medgadget.com)
- A blood clot (clot formed by mesh-like fibrin protein) is a thick, sticky gel-like mass of blood that forms when platelets, proteins and cells in the blood aggregate together form a clump to stop bleeding, thus the process of blood clotting plugs the damaged blood vessels from bleeding. (rtdiagnostics.net)
- Hence FDPs are one among the tests in clotting disorder profile tests. (rtdiagnostics.net)
- Causes of incidence include patients suspected with Anti-Phospholipid syndrome (auto-immune disorder), inherited clotting disorders (eg. (rtdiagnostics.net)
- Thrombophilia or a clotting disorder is a term used to describe a group of conditions in which there is an increased tendency for excessive clotting. (ihtc.org)
- People with a clotting disorder often have repeated clotting events over an extended period. (ihtc.org)
- Although we are now able to determine the underlying cause in some patients and families for this tendency towards excessive blood clotting, we are not yet able to identify the cause in all cases. (ihtc.org)
- Hence, primary hemostatic disorders are characterized by prolonged bleeding time, and the characteristic physical examination findings are petechiae and purpura. (medscape.com)
- A blood test can be done to see how much of this protein you have in your blood. (medlineplus.gov)
- A lack of this protein or a problem with the function of this protein may cause blood clots to form in veins abnormally. (medlineplus.gov)
- A protein S deficiency may be inherited. (medlineplus.gov)
- BLOOD PROTEIN DISORDERS or nutritional conditions. (nih.gov)
- This is the oxygen-carrying protein in red blood cells. (brighamandwomens.org)
- In the process of wound healing, these blood clots disappear naturally as this fibrin meshwork dissolves these fragments of this protein also known as 'fibrin degradation products-FDPs' are released into the bloodstream. (rtdiagnostics.net)
- You can read about conditions that happen when your blood does not clot enough in our Bleeding Disorders health topic. (nih.gov)
- Clients considered or suspected to have minor bleeding disorders can be circumcised safely in settings where blood products are available. (cdc.gov)
- Bleeding adverse events in men with potential bleeding disorders are serious and can be fatal. (cdc.gov)
- The WFH advocates for access to safe and effective treatment for all people with bleeding disorders, regardless of where they live or their ability to pay. (drsheetusingh.com)
- The WFH is committed to advancing research and education in the field of bleeding disorders to improve outcomes for patients. (drsheetusingh.com)
- The mission of WFH is to improve and sustain care for people with inherited bleeding disorders worldwide. (drsheetusingh.com)
- The purpose is to increase access to treatment and care with an emphasis on better management and prevention of bleeds for all people with bleeding disorders. (drsheetusingh.com)
- At Brigham and Women's Hospital, experts in maternal-fetal medicine have formed an innovative collaboration with specialists in hematology to provide multidisciplinary care for patients with blood disorders. (brighamandwomens.org)
- Congenital deafness is an inherited form of hearing loss in dogs. (embarkvet.com)
- According to the Fortune Business Insights report, titled "Prothrombin Complex Concentrate (PCC) Market Size, Share and Industry Analysis By Product Type (3-factor PCC, 4-factor PCC), By Application (Congenital and Acquired Coagulation Factor deficiency), By End User (Hospitals, Ambulatory Surgical Centers), and Regional Forecast 2018-2025", the market value stood at USD 536.3 million in 2017. (medgadget.com)
- COAGADEX is made from human blood and therefore carries a risk of transmitting infectious agents, e.g. viruses, the variant Creutzfeldt-Jakob disease (vCJD) agent and, theoretically, the Creutzfeldt-Jakob disease (CJD) agent ( 5.4 ). (nih.gov)
- For women with known blood disorders, a consultation with the medical team before conception (pregnancy) can help families understand how pregnancy may impact the disease, how the blood disorder will impact the pregnancy, and whether there are any risks to the baby. (brighamandwomens.org)
- Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the F7 gene mutation. (pawprintgenetics.com)
- Diabetes, an inherited disease, has a much higher chance of developing in overweight pets, and may never become a problem for a healthy-weight cat. (animaltracksdecatur.com)
- It is mostly due to severe infection leading to uterine atony, retained products of conception, subinvolution of the placental site, and inherited coagulation defects (Abdul-Kadir et al. (springeropen.com)
- Close monitoring through birth and the postpartum period is essential for mothers with hematologic disorders, and many complications can be avoided through advance planning for this period. (brighamandwomens.org)
- In addition, these specialists also work closely with the BWH Blood Bank to ensure the safety during pregnancy, birth, and postpartum course. (brighamandwomens.org)
- During the coagulation cascade, a series of reactions occur between proteins and other factors in the blood that cause the blood to thicken and clot to stop bleeding. (marijuanadoctors.com)
- Hypoparathyroidism results from deficient parathyroid hormone (PTH), which can occur in autoimmune disorders or after the accidental removal of or damage to several parathyroid glands during thyroidectomy. (merckmanuals.com)
- An acquired condition , such as a lupus anticoagulant or antiphospholipid antibody syndrome, which can occur as a manifestation of an autoimmune disorder, or as part of a syndrome such as systemic lupus erythematosus. (ihtc.org)
Clots to form1
- It is rare for blood clots to form in the arteries. (nih.gov)
- Despite the exhaustive screening of F7 gene exons and exon-intron boundaries and promoter region, a significant proportion of mutated alleles remains unidentified in patients with coagulation factor VII deficiency. (haematologica.org)
- Genetic testing of the F7 gene in dogs will reliably determine whether a dog is a genetic Carrier of coagulation factor VII deficiency. (pawprintgenetics.com)
- Their blood doesn't clot properly because of a faulty gene. (wordpress.com)
- Efforts to improve precircumcision screening are intended to reduce the occurrence of bleeding adverse events by identifying clients who might have signs of a bleeding disorder. (cdc.gov)
- In 2017, the American College of Obstetricians and Gynecologists (ACOG) defined PPH as blood loss ≥ 1000 ml or blood loss that is accompanied by symptoms or signs of hypovolemia, occurring within 24 h from delivery (Escobar et al. (springeropen.com)
- If your blood does not clot enough, you may experience problems with bleeding too much after an injury or surgery. (nih.gov)
- The hemostatic system consists of platelets, coagulation factors, and the endothelial cells lining the blood vessels. (medscape.com)
- Haemophilia is a medical disorder, mainly inherited, in which the capacity of blood to clot is substantially decreased so that even a little injury can produce major bleeding. (drsheetusingh.com)
- Women with hematologic (blood) conditions, including inherited and acquired blood disorders, can face unique challenges during pregnancy. (brighamandwomens.org)
- Pregnancy hormones impact many hematologic conditions, causing an increased risk of blood clots with some disorders. (brighamandwomens.org)
- We work as a team to provide the best outcomes for mothers, babies, and families, in the setting of complicated hematologic disorders. (brighamandwomens.org)
- One thing led to another and I spent the next 20 years of my life involved with transfusion medicine and blood products therapies. (wordpress.com)
- 2022 ). Severe maternal morbidity is indicated by intensive care unit (ICU) admission or massive transfusion of blood products. (springeropen.com)
- 32% should be treated by iron or erythropoietin to reduce the risk of peripartum blood transfusion (Beverley et al. (springeropen.com)
- 2013 ). Parturients with suspected placenta accreta should be scheduled for delivery in an appropriate surgical facility, with a blood bank that can facilitate transfusion of large amounts of blood products (Eller et al. (springeropen.com)
- For some patients, anticoagulation (blood thinners) will be adjusted, and others may require blood tests or transfusions. (brighamandwomens.org)
- To diagnose your bleeding disorder, your healthcare provider may need to review your symptoms, risk factors, medical history, and blood test results. (nih.gov)
- Overview of Disorders of Calcium Concentration Calcium is required for the proper functioning of muscle contraction, nerve conduction, hormone release, and blood coagulation. (merckmanuals.com)
- Iron and folate needs also change during pregnancy, which can complicate anemia and other blood disorders. (brighamandwomens.org)
- One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia. (lookformedical.com)
- Both types are inherited, meaning they are passed down from parent to child through their genes. (drsheetusingh.com)
- Monitor trough blood levels of Factor X targeting ≥5 IU/dL and adjust dosage to clinical response and trough levels. (nih.gov)
- This may include blood thinners. (medlineplus.gov)