AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesGeographicals
LipodystrophyLipodystrophy, Congenital GeneralizedHIV-Associated Lipodystrophy SyndromeLipodystrophy, Familial PartialDiabetes Mellitus, LipoatrophicLamin Type AAcanthosis NigricansGTP-Binding Protein gamma Subunits1-Acylglycerol-3-Phosphate O-AcyltransferaseAcro-OsteolysisAntiretroviral Therapy, Highly ActiveAdipose TissueStavudineHIV InfectionsInsulin ResistanceProgeriaLaminsComplement C3 Nephritic FactorBody Fat DistributionLeptinHypertriglyceridemiaPanniculitisHIV Protease InhibitorsAnti-HIV AgentsBody CompositionMuscular Dystrophy, Emery-DreifussContracturePPAR gammaPhosphatidate PhosphataseAdipocytesAdipogenesisOmanSubcutaneous FatOligomenorrheaPedigreeLipid MetabolismCocosSubcutaneous TissueMutationLipolysis
Congenital generalizedSyndromesSyndromeAcquired generalized lipodystrophyAdipose tissueFPLDPatientsClassificationMetabolicMutationsPhenotypePathophysiologyMedscapeOccursManifestGenetic or acquiredInjectionFattyDiseaseDiabetesMPGNDiagnosisRareMutationTypeCommonChildhoodTypesTreatmentResistanceFormsSecondaryLoss of fatReduceBody
Congenital generalized5
  • The four major subtypes of LD, congenital generalized LD, acquired generalized LD, familial partial LD and acquired partial LD were studied. (empr.com)
  • The main subtypes of familial lipodystrophies are congenital generalized lipodystrophy, an autosomal recessive disorder characterized by near complete lack of metabolically active adipose tissue from birth, and familial partial lipodystrophy, Dunnigan type, an autosomal dominant disorder characterized by loss of subcutaneous fat from the extremities at puberty and excess fat accumulation in the face and neck. (medscape.com)
  • Congenital generalized lipodystrophy type 4 (CGL4) is an extremely rare subtype, caused by mutations in the polymerase I and transcript release factor (PTRF) gene. (bvsalud.org)
  • Congenital generalized lipodystrophy (Berardinelli-Seip syndrome) is an autosomal recessive condition, presenting during infancy with generalized loss of fat. (omjournal.org)
  • 1 Based on these characteristics, four subgroups of generalized and partial forms are identified: congenital generalized lipodystrophy (CGL), acquired generalized lipodystrophy, familial partial lipodystrophy, and acquired partial lipodystrophy. (omjournal.org)
Syndromes6
  • Additional genetic subtypes include progeroid syndromes, autoinflammatory disorders, and SHORT syndrome. (medscape.com)
  • Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue. (wikipedia.org)
  • Leptin replacement therapy with human recombinant leptin metreleptin has been shown to be an effective therapy to alleviate the metabolic complications associated with lipodystrophy, and has been approved by the FDA for the treatment of generalized lipodystrophy syndromes. (wikipedia.org)
  • The lipodystrophy syndromes are a heterogeneous group of syndromes characterized by selective loss of fat from various parts of the body. (medscape.com)
  • Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and may have a genetic background. (bvsalud.org)
  • [ 5 ] mental retardation and retinal disease are among the syndromes that also are associated with acquired partial lipodystrophy. (medscape.com)
Syndrome9
  • An estimated 1-5 million individuals in the United States have a lipodystrophy syndrome, but accurate data are difficult to obtain owing to the rarity of these conditions. (medscape.com)
  • The medicine is used in: adults and children above the age of two years with generalised lipodystrophy (Berardinelli-Seip syndrome and Lawrence syndrome) and in adults and children above the age of 12 years with partial lipodystrophy (including Barraquer-Simons syndrome), when standard treatments have failed. (wikipedia.org)
  • One subtype of laminopathy is the generalized lipodystrophy-associated progeroid syndrome (GLPS), which occurs in patients with heterozygous mutations of the LMNA gene c.29C>T(p.T10I). (bvsalud.org)
  • Acquired partial lipodystrophy (APL) also known as Barraquer-Simons syndrome or cephalothoracic lipodystrophy, is one of the rare forms of lipodystrophy. (medscape.com)
  • Waylivra is the only treatment for familial chylomicronemia syndrome (FCS) in Brazil. (constantcontact.com)
  • Gardner's syndrome (also known as Gardner syndrome , familial polyposis of the colon , [1] or familial colorectal polyposis [2] ) is a subtype of familial adenomatous polyposis (FAP). (wikipedia.org)
  • After most of the second half of the 20th century, Gardner syndrome has been merged into FAP and is now considered simply a phenotypic subtype of FAP. (wikipedia.org)
  • Gardner syndrome is set apart as a subtype because, in addition to colonic polyps, there are also extra-colonic growths (both malignant and benign). (wikipedia.org)
  • Gardner syndrome is also associated with familial adenomatous polyposis and may manifest as aggressive fibromatosis (desmoid tumors) of the retroperitoneum. (wikipedia.org)
Acquired generalized lipodystrophy2
  • Patients with acquired generalized lipodystrophy have generalized loss of subcutaneous fat, but those with acquired partial lipodystrophy have fat loss limited to the face, trunk, and upper extremities. (medscape.com)
  • [ 3 ] This variety (like acquired generalized lipodystrophy) occurs approximately 3 times more often in women, begins during childhood, and has underlying autoimmunity. (medscape.com)
Adipose tissue4
FPLD2
  • Familial partial lipodystrophy (FPLD) is a group of diseases characterized by an abnormal distribution of fat around the body. (rareguru.com)
  • There are at least six subtypes of FPLD. (rareguru.com)
Patients9
  • Patients suffering from lipodystrophies experience reduced body fat, severe insulin resistance, hypertriglyceridemia, and hypoleptinemia, and nonalcoholic fatty liver disease. (medscape.com)
  • Connect with other caregivers and patients with Lipodystrophy, familial partial, type 5 and get the support you need. (rareguru.com)
  • In up to ~40% of partial lipodystrophy patients, a causative gene has not been identified. (wikipedia.org)
  • In Europe based on EMA, metreleptin should be used in addition to diet to treat lipodystrophy, where patients have loss of fatty tissue under the skin and build-up of fat elsewhere in the body such as in the liver and muscles. (wikipedia.org)
  • Volanesorsen is an Apo-CIII inhibitor that is currently being investigated as a potential therapeutic to reduce hypertriglycerides in Familial Partial Lipodystrophy patients in the BROADEN study. (wikipedia.org)
  • Owing to its rarity in male patients, we are presenting the case of acquired partial lipodystrophy in a 12-year-old boy with a granular accumulation of C 3 in the basement membrane on skin biopsy. (medscape.com)
  • Acquired partial lipodystrophy is a rare condition with approximately 250 described patients of various ethnic origins. (medscape.com)
  • In contrast with their occurrence in other types of lipodystrophy, diabetes and impaired glucose tolerance are found only rarely in APL, being reported in 6.7% and 8.9% of patients, respectively. (medscape.com)
  • 1 About 300 patients have been described in the literature as having generalized lipodystrophy. (omjournal.org)
Classification1
  • Another form of lipodystrophy that fits the classification of "acquired partial" not involving the complement pathway is associated with hematopoietic stem cell transplantation (HSCT) to treat leukemia or neuroblastoma. (medscape.com)
Metabolic1
  • Bristol-Myers Squibb and AstraZeneca announced the results from a 12-month sub-group analysis of a National Institutes of Health (NIH), open-label, long-term research study of metreleptin, an investigational human hormone leptin analogue for the treatment of metabolic disorders associated with inherited or acquired lipodystrophy (LD). (empr.com)
Mutations1
  • For example, bone morphogenetic protein receptor type 2 ( BMPR2 ) mutations are observed in 60-80% of familial (FPAH) cases, but data from population registries indicate that penetrance of the disease phenotype ranges from 14 to 42% [ 6 ]. (biomedcentral.com)
Phenotype1
  • Five cases were reported but the phenotype resembles Dunnigan-type familial partial lipodystrophy rather than classic APL. (medscape.com)
Pathophysiology1
Medscape1
Occurs1
Manifest1
  • Other lipodystrophies manifest as lipid redistribution, with excess, or lack of, fat in various regions of the body. (wikipedia.org)
Genetic or acquired1
  • It is classified as either diffuse (generalized) or local (partial) and results from either genetic or acquired etiologies. (medscape.com)
Injection3
  • [ 1 ] Other acquired subtypes include a localized lipodystrophy seen in injection drug users. (medscape.com)
  • In some cases, rotation of the injection sites may not be enough to prevent lipodystrophy. (wikipedia.org)
  • 3 Localized lipodystrophies, affecting small areas can result at sites of insulin and steroids injection. (omjournal.org)
Fatty2
  • In contrast to the high levels seen in non-alcoholic fatty liver disease associated with obesity, leptin levels are very low in lipodystrophy. (wikipedia.org)
  • A 16-year-old male patient was treated for diabetic ketoacidosis, presenting with premature aging appearance, systemic lipodystrophy, severe fatty liver, and decreased bone density. (bvsalud.org)
Disease1
  • [3] This gene is also mutant in familial adenomatous polyposis (FAP), a more common disease that also predisposes to colon cancer. (wikipedia.org)
Diabetes2
  • This article summarizes information on type 1 and type 2 diabetes mellitus, their less common subtypes, approaches to diagnosis, and implications for selecting glucose-lowering therapy. (ccjm.org)
  • Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective lack of subcutaneous fat which is associated with insulin resistant diabetes. (efim.org)
MPGN1
  • Familial forms of all 3 types of MPGN have been described. (medscape.com)
Diagnosis1
  • The diagnosis of lipodystrophy can be challenging, often requiring a multidisciplinary approach, given the pleiotropic effect, involving several tissues. (bvsalud.org)
Rare2
  • Acquired partial lipodystrophy is a rare condition with onset in childhood or adolescence. (medscape.com)
  • 1 The localized and HIV-associated lipodystrophies are the most common while genetic and other acquired lipodystrophies are rare. (omjournal.org)
Mutation1
Type1
  • Familial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. (nih.gov)
Common1
Childhood1
Types2
  • These types of lipodystrophies are harmless and can be avoided by changing (rotating) the locations of injections. (wikipedia.org)
  • [ 1 ] They are classified into 2 major types: familial and acquired. (medscape.com)
Treatment1
  • In addition, PTC submitted an application to the Brazilian Health Regulatory Agency, Agência Nacional de Vigilância Sanitária (ANVISA), for approval of Waylivra for the treatment of familial partial lipodystrophy (FPL). (constantcontact.com)
Resistance1
  • Although PHP-Ib is characterized principally by PTH resistance, some individuals also have partial TSH resistance and mild features of AHO (e.g., brachydactyly). (nih.gov)
Forms1
  • A lipodystrophy can be a lump or small dent in the skin that forms when a person performs injections repeatedly in the same spot. (wikipedia.org)
Secondary1
  • The first two groups can be secondary to underlying genetic defects or acquired due to autoimmune mechanisms or drugs such as highly active antiretroviral therapy (HAART)-induced partial lipodystrophy. (omjournal.org)
Loss of fat1
  • Circulating levels of these adipokines are lower in generalized versus partial lipodystrophy as predicted from the loss of fat. (medscape.com)
Reduce1
  • Therefore, activating NRF2 signaling or direct elevation of NQO1 in the liver provides new possibilities to partially reduce steatosis that accompanies lipodystrophy. (bvsalud.org)
Body1
  • Using a skinfold caliper to measure skinfold thickness in various parts of the body or a total body composition scan using Dual-energy X-ray Absorptiometry may help identify the subtype. (wikipedia.org)