Disease familial mediterranean fever. Medical search. Frequent questions

The disease appears to involve an autoimmune response triggered by exposure to an infectious agent, and it occurs predominantly in people with ancestors along the Silk Road, the ancient network that connected Asia with the Middle East and southern Europe. (medscape.com)
Theories behind the pathogenesis of Behçet disease currently suggest an autoimmune etiology. (medscape.com)
FMF which is an autoinflammatory disease is often accompanied with other autoinflammatory and autoimmune diseases such as vasculitis, chronic arthritis and IBD. (turkiyeklinikleri.com)
Most often this includes autoimmune diseases such as systemic lupus erythematosus or rheumatoid arthritis , but may also be caused by metabolic disorders such as kidney failure , and rare inflammatory diseases like familial Mediterranean fever. (osmosis.org)
A recent study found that a family history of autoimmune diseases increased risk factors in juvenile idiopathic arthritis development. (contemporarypediatrics.com)
The risk of juvenile idiopathic arthritis (JIA) is greater among children with familial autoimmune diseases (AD), according to a recent study published in Pediatric Rheumatology . (contemporarypediatrics.com)
Prevalence of familial autoimmune diseases in juvenile idiopathic arthritis: results from the international Pharmachild registry. (contemporarypediatrics.com)
We are leaders in advancing education, advocacy, and research for those impacted by autoimmune and autoinflammatory arthritis (AiArthritis) diseases through peer-led guidance, collaboration, and resources that are driven by patient-identified issues and patient-infused solutions. (globalgenes.org)
Autoimmune Registry, Inc., ARI, is a 501(c)(3) non-profit umbrella organization that provides a hub for research, statistics, and patient data on all autoimmune diseases. (globalgenes.org)
Since 2016 we have operated a database for patients who suffer from any autoimmune disease. (globalgenes.org)
Our mission is to reduce the time of diagnosis, support research, compute prevalence statistics, and establish autoimmune disease as a major class of disease so that it receives the awareness of the public, the attention of healthcare providers, and the appropriate funding needed to improve upon existing treatment protocols and disease management strategies. (globalgenes.org)
The unit has extensive experience in treating patients with collagen diseases and internal organ complications (lung and heart involvement in collagen diseases, pulmonary hypertension due to collagen disease, Raynaud's syndrome, and gastrointestinal complications in autoimmune diseases). (rambam.org.il)

Ocular disease has the greatest morbidity, followed by vascular disease generally from active vasculitis. (medscape.com)

The media reports that colchicine, a very old drug, has now been discovered to reduce the risk of recurrent heart disease and has a new FDA indication. (acsh.org)
We might best describe the study group as having well-managed chronic coronary artery disease, who were compliant with additional daily medication and, to a large degree, had no adverse effects from colchicine. (acsh.org)
You will note a bit of human judgment in this labeling since the impact of Lodoco, the brand name of the approved colchicine, was tested on individuals with established atherosclerotic disease rather than multiple risk factors, and the reduction in cardiovascular deaths was not statistically significant. (acsh.org)
An early signal of the impact of colchicine on cardiovascular disease was identified in retrospective studies of patients with gout and Familial Mediterranean Fever who had a lower incidence of coronary disease than their untreated contemporaries. (acsh.org)
En ce qui concerne le traitement, 97% des patients répondaient bien à la colchicine et une amyloïdose n'a été documentée chez aucun des patients après un suivi de 5 ans. (who.int)
6. Patients not currently taking colchicine for other indications (e.g., gout arthritis, familial Mediterranean fever). (who.int)

The discovery of the MEFV gene associated with the disease was made in the 1990s, and the diagnostic criteria are well established [2]. (efim.org)
For individuals who are negative for mutations by targeted mutation testing, DNA sequence analysis of the entire MEFV gene coding region is available (offered as Familial Mediterranean Fever Full Gene Sequencing). (testmenu.com)
MEditerranean FeVer (MEFV) gene frequency and the prevalence of heterozygous carriers of one of MEFV mutation in Armenian population are rather high: 0.21 (1:5). (pdfslide.net)

The disorder has been given various names, including familial paroxysmal polyserositis, periodic peritonitis, recurrent polyserositis, benign paroxysmal peritonitis, periodic disease or periodic fever, Reimann periodic disease or Reimann syndrome, Siegal-Cattan-Mamou disease, and Wolff periodic disease. (wikipedia.org)
Typical clinical manifestations are self -limiting attacks of recurrent fever , abdominal pain , arthralgia , and chest pain due to aseptic polyserositis. (bvsalud.org)
We reviewed the files of 56 patients with the autosomal recessive familial paroxysmal diagnosis of FMF who were followed up in polyserositis of unknown pathogenesis [ 1 ]. (who.int)

often, differentiating Behçet disease from active inflammatory bowel disease can be clinically difficult. (medscape.com)

Cutaneous manifestations can occur in up 75% of patients with Behcet disease and can range from acneiform lesions, to nodules and erythema nodosum. (medscape.com)
Through discovery that human HSP-60 and HSP-65 share greater than 50% homology with mycobacterial HSP, enhanced T-cell response has been elicited with exposure to both bacterial and human homogenates in Behçet disease patients compared with controls in United Kingdom, Japanese, and Turkish populations. (medscape.com)
HSP-65, found in high concentrations in oral ulcers and active skin lesions in patients with Behçet disease, has also been demonstrated to stimulate production of antibodies that exhibit cross-reactivity with streptococcal species present in the mouth. (medscape.com)
Further transcriptomic analysis of isolated peripheral blood mononuclear cells (PBMCs) and PMNs from patients with acute brucellosis before treatment initiation and after successful treatment revealed a positive correlation of the molecular signature of active disease with pathways associated with response to interferons (IFN). (frontiersin.org)
Patients display attacks associating recurrent fever, arthritis, serositis and skin manifestations [1]. (efim.org)
Abstract 0378 reviewed the demographics and disease features of axSpA patients with and without FMF. (stillsnow.com)
However, lowering LDL levels is a common clinical practice to reduce oxidation and the risk of major events in patients with cardiovascular diseases (CVD). (hindawi.com)
This gene is known to cause an inflammatory disease called Familial Mediterranean Fever (FMF) in patients who inherit mutated copies from both their mother and father. (edu.au)
In the mutation found in PAAND patients, however, only a single copy of the mutation is needed to cause the disease, so it affects half of the children of patients. (edu.au)
The medical records of 90 patients with coexistence diseases among 858 FMF patients were investigated retrospectively from their medical files. (turkiyeklinikleri.com)
Among 858 FMF patients, additional coexistence disease was identified in 90 (10.5%) patients. (turkiyeklinikleri.com)
Clinicians should be aware of in differential diagnosis of additional diseases that may develop in follow-up of FMF patients. (turkiyeklinikleri.com)
His research interests pertain to non-inflammatory vasculopathies, particularly Kohlmeier-Degos disease, and he has spearheaded efforts at UCLA to develop multidisciplinary care for patients with the PANS and PANDAS syndromes -- conditions that contribute to OCD, tic, and behavioral problems in young children. (uclahealth.org)
Patients were enrolled in the Eurofever registry (EAHC Project No. 2007332), a registry that retrospectively collects information on patients suffering from periodic fever. (biomedcentral.com)
The study by Agepha Pharma used by the FDA in its approval of this new indication for use ultimately involved 5478 patients between the ages of 35 and 82 with evidence of coronary artery disease upon imaging [1] and had been clinically stable for six months before enrollment. (acsh.org)
Lodoco is indicated to reduce the risk of myocardial infarction (MI), stroke, coronary revascularization, and cardiovascular death in adult patients with established atherosclerotic disease or with multiple risk factors for cardiovascular disease. (acsh.org)
5 Many patients with a previous attack of pericarditis may experience recurrent pain but without a true recurrence documented by objective evidence of disease activity (ie, elevated C-reactive protein). (revespcardiol.org)
Patients with UC had atypical onset of disease during the ﬁrst year of life: recurrent febrile colics, diarrhea and/or abacterial haemocolitis. (pdfslide.net)
Thus, FMF patients with severe course of disease and M694V mutation, especially with homozygous geno- type were at a high risk for abdominal and digestive system manifestations. (pdfslide.net)
The time from disease onset until entry in the study for patients was a median 139 days. (contemporarypediatrics.com)
In parents of the included JIA patients, 1366 ADs were reported, with psoriasis and ankylosing spondylitis being the most common diseases. (contemporarypediatrics.com)
Sickle cell disease (SCD) patients aged 12 years and up can now be treated with exa-cel and lovo-cel, following simultaneous approval from the FDA on December 8, 2023. (contemporarypediatrics.com)
This approach is particularly important for patients with systemic rheumatic diseases. (rambam.org.il)
Clinical findings of these patients are characterized by recurrent attacks of fever, erythematous/urticarial rash with hyperesthesia, myalgia, serositis, chylous serosal effusions, edema/lymphedema on the face and extremities. (biomedcentral.com)
ABSTRACT Familial Mediterranean fever is quite prevalent among Arabs.We reviewed the files of 56 patients diagnosed with familial Mediterranean fever and followed up at King Hussein Medical Centre in Jordan over 4 years for their clinical profile, course, genotype, treatment and complications.There were 30 males and 26 females with a mean age at onset of 5.2 years. (who.int)
Nous avons exa- miné les dossiers de 56 patients ayant eu un diagnostic de fièvre méditerranéenne familiale et suivis au Centre médical Roi Hussein en Jordanie sur une période de 4 ans afin d'étudier leur profil clinique, l'évolution de la maladie, le génotype, le traitement et les complications. (who.int)
Il y avait des antécédents familiaux positifs chez 50% des patients. (who.int)
G-CSF levels in peripheral blood are increased in patients with active Sweet syndrome, suggesting that high levels of G-CSF may one day be a useful indicator of activity level of the disease. (medscape.com)

149 FMF is an autoinflammatory disease caused by mutations in Mediterranean fever gene, which encodes a 781-amino acid protein called pyrin. (wikipedia.org)
The frequency of the disease gene in these populations is very high, with a carrier rate of about 1/7 in North African Jews and Armenians. (testmenu.com)
The disease appears only in people who received two copies of the altered gene, one from each parent. (medlineplus.gov)
The continuing work by deCODE genetics on 50 common diseases is sure to result in a slew of additional gene findings and help to characterize the allelic spectrum of disease-predisposing variants. (biomedcentral.com)
If both copies of a gene have a mutation, you will have the disease. (healthywomen.org)
Those who are diagnosed with a recessive disease have inherited two copies of a gene, both carrying a mutation. (healthywomen.org)
If two carriers of the same disease-causing gene have children, each pregnancy has a 25 percent chance of having the disease (because of a 25 percent chance of inheriting both the mother's and the father's mutated copies of the gene), a 50 percent chance of being a carrier and a 25 percent chance of not inheriting the mutation at all. (healthywomen.org)
If a person has one mutated gene, its effects will cause the disease, even if the matching gene is normal. (healthywomen.org)
Different mutations in the SERPINA1 gene result in alpha-1 antitrypsin (AAT) deficiency and in an increased risk for the development of liver diseases. (isciii.es)

Systemic juvenile idiopathic arthritis (sJIA), adult-onset Still's disease (AOSD), gout, and pseudogout: rheumatologist. (aetna.com)
Etiology references Familial Mediterranean fever is an autosomal recessive disorder characterized by recurrent bouts of fever and peritonitis, sometimes with pleuritis, skin lesions, arthritis, and, rarely, pericarditis. (msdmanuals.com)
Familial Mediterranean Fever (FMF), also inherited with autosomal recessive trait, is characterized by recurrent episodes of fever, arthritis, and serositis. (balkanmedicaljournal.org)
Juvenile rheumatoid arthritis (JRA) is the most common chronic rheumatologic disease in children and is one of the most common chronic diseases of childhood (see the image below). (medscape.com)

Shear wave elastography evaluation of kidneys in children with familial mediterranean fever. (bvsalud.org)

Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent fever and serositis. (turkiyeklinikleri.com)
Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen chest joints and muscles. (globalgenes.org)

Hereditary periodic fever syndromes and other systemic autoinflammatory diseases. (medlineplus.gov)

Trabulus S, Guven GS, Altiparmak MR, Batar B, Tun O, Yalin AS, Tunckale A, Guven M. DNA repair XRCC1 Arg399Gln polymorphism is associated with the risk of development of end-stage renal disease. (florence.com.tr)

Note that "periodic fever" can also refer to any of the periodic fever syndromes. (wikipedia.org)

Clinical and genetic findings of familial Mediterranean fever (FMF) may vary in different populations. (uwi.edu)
Dr Seth Masters has solved a long-standing skin disease mystery, pinpointing a genetic mutation as the cause. (edu.au)
Dr Masters said the team's work had pinpointed the cause of the disease - a genetic mutation - and by identifying the cause, they had been able to effect a treatment. (edu.au)
The genetic analysis that is available to us now allows us to penetrate the cause of disease in a way that was out of our reach previously. (edu.au)
People with genetic origins in the Mediterranean basin are more frequently affected than other ethnic groups. (msdmanuals.com)
Familial Mediterranean fever (FMF) is a disease of people with genetic origins in the Mediterranean basin, predominantly Sephardic Jews, North African Arabs, Armenians, Turks, Greeks, and Italians. (msdmanuals.com)
Over the past few years, understanding how genetic variation in individuals and in populations contributes to the biological pathways involved in determining human traits and mechanisms of disease has become a reachable goal for genetic research. (biomedcentral.com)
Genetic testing of FMF is efﬁcient for diagnosis of the disease and allows to diagnose atypical cases. (pdfslide.net)
Familial Mediterranean fever, children, abdominal and digestive system manifestations, clinical and genetic characteristics. (pdfslide.net)
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure. (globalgenes.org)
Genetic testing is used to confirm the presence of genetic diseases, as well as to measure your risk of developing a disease or of passing along a genetic disorder to a child.Today, there are hundreds of genetic tests, some of them for relatively common disorders, such as cystic fibrosis, and others for very rare diseases. (healthywomen.org)
But others measure your risk of developing a disease, even if you are healthy now (presymptomatic testing), or determine whether you and your partner are at risk of having a child with a genetic disorder (carrier screening). (healthywomen.org)
These mutations can lead to diseases ranging from those we think of as 'genetic diseases,' such as cystic fibrosis or AAT deficiency, to those we think of as degenerative diseases, such as heart disease. (healthywomen.org)
In the case of diseases like heart disease, asthma or diabetes, a combination of factors-some genetic, some related to environmental or lifestyle-may work together to trigger the disease. (healthywomen.org)

For a list of clinical trials in this disease area, please click here . (globalgenes.org)

It is characterized by recurring bouts of fever, most commonly with severe abdominal pain due to peritonitis. (testmenu.com)

The PAAND mutation causes the body to respond as if there is an infection, which leads to the skin making an inflammatory protein which causes fevers, pain and skin lesions," Dr Masters said. (edu.au)
The frequency of AIO, FMF-associated vascuitides, UC was associated with M694V mutation, mainly, homozygous genotype, high disease severity, early onset and delayed diagnosis. (pdfslide.net)
It's possible to have a mutation, even one for a severe disease, such as cystic fibrosis (CF) and never know it. (healthywomen.org)
You 'carry' the mutation but do not have the disease. (healthywomen.org)

Familial Mediterranean fever is a frequently seen chronic inflammatory disease that can lead to severe morbidity and mortality if left untreated. (uwi.edu)
Dr Seth Masters from the institute, working in conjunction with Dr Adrian Liston and Dr Carine Wouters from Belgium, studied families in France, Belgium and England who had been living with an unknown condition that caused severe skin lesions, fevers, pain and exhaustion. (edu.au)
Acute and severe abdominal pain, however, is almost always a symptom of intra-abdominal disease. (msdmanuals.com)
Acid sphingomyelinase deficiency (ASMD) or Niemann-Pick disease type A (NPA), type B (NPB) and type A/B (NPA/B), is a rare lysosomal storage disease characterized by progressive accumulation of sphingomyelin (SM) in the liver, lungs, bone marrow and, in severe cases, neurons. (isciii.es)
Ask your health care provider if you are not sure if you have severe liver disease. (who.int)

Increased inflammation could contribute to occur concomitant diseases. (turkiyeklinikleri.com)
Recurrent pericarditis is a disease characterized by recurring episodes of swelling or inflammation of the fluid filled sac surrounding the heart, the pericardium . (osmosis.org)
It involves repeated fevers and inflammation that often affects the lining of the abdomen, chest, or joints. (medlineplus.gov)
Inflammation in the lining of the abdominal cavity, chest cavity, skin, or joints occurs along with high fevers that usually peak in 12 to 24 hours. (medlineplus.gov)
Proposed diagnostic criteria for recurrent pericarditis include recurrent chest pain and 1 or more of the following signs: fever, pericardial friction rubs, electrocardiographic changes, echocardiographic evidence of new or worsening pericardial effusion, or elevated markers of inflammation (ie, elevated leukocyte count, erythrocyte sedimentation rate, or C-reactive protein level). (revespcardiol.org)
Acute febrile neutrophilic dermatosis (Sweet syndrome) is a reactive process (a hypersensitivity reaction) that occurs in response to systemic factors, such as hematologic disease, infection, inflammation, vaccination, or drug exposure. (medscape.com)

Following on from the achievements in molecular studies of monogenic disorders, recent studies have used strategies of hypothesis-free fine mapping of genes and loci to identify underlying factors in common complex diseases with major impacts on public health. (biomedcentral.com)
These diseases, which include cancers, coronary heart disease, schizophrenia, autism and multiple sclerosis, arise from complex interactions between environmental factors and variation in several different genes. (biomedcentral.com)
Until recently, detection of the genes underlying these diseases met with only limited success, but the past two years have witnessed the identification of more than 100 well established loci. (biomedcentral.com)
The detection of genes underlying common complex diseases might not always need large global population samples. (biomedcentral.com)
Samples of individuals from genetically isolated populations, or 'population isolates', have already proved immensely useful in the identification of rare recessive disease genes. (biomedcentral.com)
Such genes are only detectable in isolated populations with a limited number of founders, where rare disease alleles are enriched, thus resulting in homozygote individuals affected by the disease. (biomedcentral.com)

The incidence of target organ damage associated to CVD increases with age, and gender studies show global higher incidence in men for stroke and coronary artery disease (CAD) [ 10 ]. (hindawi.com)

The criteria most commonly used for diagnosis come from the International Study Group for Behçet's Disease. (medscape.com)
Starting in 1946, numerous sets of diagnosis/classification criteria for Behçet disease have been proposed. (medscape.com)
The International Study Group for Behçet's Disease has emphasized the presence of recurrent oral ulcers as a primary consideration in the diagnosis of Behçet disease. (medscape.com)
Key Features - Covers abdominal pain diagnosis and patient management patient in a systematic and structured manner in 12 chapters - Chapters are dedicated to specific topics - Presents an individualized approach tailored for the patient to address common problems - Gives general working knowledge for specific diseases in the list of possible diagnoses - Provides a guide to situations involving trauma and surgery. (eurekalert.org)
Laboratory tests and x-rays or other imaging tests are used to rule out other possible diseases to help confirm the diagnosis. (medlineplus.gov)
The diagnosis of FMF and severity of disease were conﬁrmed according to the generally recognized criteria [Livneh A. et al. (pdfslide.net)
Early diagnosis and treatment of FMF diges- tive system manifestations improve the course of disease and prevent amyloidosis. (pdfslide.net)
In addition, the unit team provides immediate diagnosis of joint/tendon disease and administers joint/tendon injections using a portable ultrasound device. (rambam.org.il)
Physical findings are important to provide criteria for diagnosis and to detect abnormalities suggestive of alternative etiologies, as well as to indicate disease subtypes. (medscape.com)

One patient suffered from macrophage activation syndrome, a life-threatening complication characterized by high fever, pancytopenia and liver damage. (biomedcentral.com)
Congenital Byler Syndrome (Progressive Familial Intrahepatic Cholestasis) inherited with autosomal recessive trait and characterized by defective secretion of bile acids. (balkanmedicaljournal.org)
Described in 1964 by Robert Sweet, the entity currently recognized as Sweet syndrome ranges from classic Sweet disease, which occurs in young women after a mild respiratory illness, to a more aggressive neutrophilic process, which may be associated with other inflammatory diseases or malignancy. (medscape.com)

Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder. (wikipedia.org)

Some disorders, such as Huntington disease, are autosomal dominant. (healthywomen.org)

Behçet disease is a rare vasculitic disorder that is characterized by a triple-symptom complex of recurrent oral aphthous ulcers , genital ulcers, and uveitis . (medscape.com)
Familial Mediterranean fever (FMF) is an inherited disorder. (testmenu.com)
Familial Mediterranean fever (FMF) is a rare disorder passed down through families (inherited). (medlineplus.gov)

SwissProt sequences and OMIM curated human diseases associated with missense mutations within the SPRY domain. (embl.de)
The panel of 12 mutations offered in this test will pick up 80% to 90% of Mediterranean carriers, but less in other ethnic groups. (testmenu.com)

Other diseases such as inherited alpha-1 antitrypsin deficiency (AATD) have also been related to the development of liver steatosis. (isciii.es)
This insurance accounts for the cific laboratory test for this disease was the second largest sector of medically insured documentation of C5a-inhibitor deficiency individuals. (who.int)

Benign cystic mesothelioma: A rare cause of ascites in a case with familial Mediterranean fever. (florence.com.tr)

Non-alcoholic fatty liver disease (NAFLD) is a type of steatosis commonly associated with obesity, dyslipidemia, hypertension, and diabetes. (isciii.es)

Introduction: Rare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions of people globally. (isciii.es)
Over half of all persons with rare diseases (RDs) in Spain experience diagnostic delay (DD) but little is known about its consequences. (isciii.es)

Interrelation of cytokines and their association with acute phase proteins in Hodgkin's disease and in rheumatoid artritis. (florence.com.tr)

Taken together, this study provides for the first time an in-depth analysis of the transcriptomic alterations that take place in human phagocytes upon infection, and in peripheral blood immune populations during active disease. (frontiersin.org)
isolated populations also provide a useful resource for studies aimed at improved understanding of the biology underlying common diseases and their component traits. (biomedcentral.com)

Every generation, half of the children of the people who suffered from this unknown disease develop the same symptoms. (edu.au)
Some of these diseases and symptoms were more frequent than expected. (pdfslide.net)

[ 3 ] The treatment approach depends on the individual patient, severity of disease, and major organ involvement (see Treatment and Medication . (medscape.com)
[ 4 ] The disease is named after the Turkish dermatologist Hulusi Behçet, who identified it in a patient in 1924 and published a description of the disease in 1937. (medscape.com)
The name of a patient or family with the condition (for example, amyotrophic lateral sclerosis is often called Lou Gehrig disease after the famous baseball player who was diagnosed with the condition). (medlineplus.gov)
Is Immunosuppressive and Thrombolytic Therapy Really Effective in a Patient With Intracardiac Thrombosis and Pulmonary Artery Aneurysm due to Behçet's Disease? (archivesofrheumatology.org)

Familial Mediterranean Fever (FMF) is the most common monogenic auto-inflammatory disease [1]. (efim.org)

Anatomy1

Diseases11

Chemicals and Drugs9

Analytical, Diagnostic and Therapeutic Techniques and Equipment3

Phenomena and Processes5

Information Science1

Named Groups2

Health Care1

Geographicals4

Autoimmune12

Vasculitis1

Colchicine6

MEFV3

Polyserositis3

Inflammatory bowel d1

Patients28

Gene9

Arthritis4

Children with familial1

Serositis2

Systemic autoinflammatory diseases1

Renal1

Periodic fever syn1

Genetic14

Clinical1

Peritonitis1

Mutation4

Severe5

Inflammation6

Genes6

Coronary artery1

Diagnosis9

Syndrome3

Hereditary1

Disorders1

Disorder3

Mutations2

Deficiency2

Benign1

Liver1

Rare diseases2

Rheumatoid1

Populations2

Symptoms2

Patient4

Auto-inflammatory1