Lipodystrophy, Familial Partial, Type 2 (FPLD2)

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OMIM 57 151660 Disease Ontology 12 DOID:0070202 DOID:11712 MeSH 44 D003923 D052496 NCIt 50 C34537 SNOMED-CT 68 71325002 Orphanet 59 ORPHA2348

UMLS via Orphanet 74 C1720860 ICD10 via Orphanet 34 E88.1 MedGen 42 C1720860 SNOMED-CT via HPO 69 263681008 69878008 73211009 24184005 38341003 83469008 48606007 86030004 402599005 72129000 277797007 63103006 399939002 197321007 442191002 17790008 42343007 84114007 233873004 45227007 414024009 53741008 75694006 197456007 16294009 80515008 38716007 237598005 80394007 129565002 190785000 68962001 248316006 16000003 73013002 275765006 4800001 248315005 15938005 266599000 289900009 431416001 128045006 128936008 385627004 197679002 12068006 447072005 62730001 more UMLS 73 C1720860 C0011859 C0221032

NIH Rare Diseases : ⁵³ Familial partial lipodystrophy type 2 (FPLD2) is a rare, genetic disorder that affects the amount and distribution of fat (adipose tissue) in the body. Symptoms typically develop around puberty, after having normal adipose tissue in childhood. FPLD2 causes a loss of adipose tissue from the limbs, torso, buttocks and hips, while causing a buildup of adipose tissue in the face, neck, and upper back. It may also cause increased musculature. Some people with FPLD2 have areas of dark, thick skin (acanthosis nigricans), and females may have excessive hairiness (hirsutism) and menstrual abnormalities.Metabolic abnormalities develop in adolescence or adulthood, leading to signs and symptoms that may include insulin resistance, dyslipidemia, diabetes, pancreatitis (or recurrent acute pancreatitis), liver steatosis, atherosclerosis, and an increased risk of heart disease. FPLD2 is caused by mutations in the LMNA gene and inheritance is autosomal dominant. Treatment aims to correct metabolic abnormalities and manage complications. This may involve medications, monitoring the diet, and exercise. Plastic surgery may be considered by some individuals. People with FPL2 are encouraged to seek counseling and support after being diagnosed, as the disorder can cause anxiety and psychological distress. The long-term health outlook generally depends on the severity of complications such as diabetes, pancreatitis, and heart disease.

MalaCards based summary : Lipodystrophy, Familial Partial, Type 2, also known as fpld2, is related to congenital generalized lipodystrophy and lipodystrophy, congenital generalized, type 2, and has symptoms including myalgia An important gene associated with Lipodystrophy, Familial Partial, Type 2 is LMNA (Lamin A/C), and among its related pathways/superpathways are Metabolism of proteins and AMP-activated Protein Kinase (AMPK) Signaling. Affiliated tissues include skin, heart and liver, and related phenotypes are diabetes mellitus and splenomegaly

Disease Ontology : ¹² A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has material basis in mutation in the LMNA gene on chromosome 1q21.

OMIM : ⁵⁷ Familial partial lipodystrophy is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Affected individuals gradually lose fat from the upper and lower extremities and the gluteal and truncal regions, resulting in a muscular appearance with prominent superficial veins. In some patients, adipose tissue accumulates on the face and neck, causing a double chin, fat neck, or cushingoid appearance. Metabolic abnormalities include insulin-resistant diabetes mellitus with acanthosis nigricans and hypertriglyceridemia; hirsutism and menstrual abnormalities occur infrequently. Familial partial lipodystrophy may also be referred to as lipoatrophic diabetes mellitus, but the essential feature is loss of subcutaneous fat (review by Garg, 2004). The disorder may be misdiagnosed as Cushing disease (see 219080) (Kobberling and Dunnigan, 1986; Garg, 2004). (151660)

UniProtKB/Swiss-Prot : ⁷⁵ Lipodystrophy, familial partial, 2: A disorder characterized by the loss of subcutaneous adipose tissue in the lower parts of the body (limbs, buttocks, trunk). It is accompanied by an accumulation of adipose tissue in the face and neck causing a double chin, fat neck, or cushingoid appearance. Adipose tissue may also accumulate in the axillae, back, labia majora, and intraabdominal region. Affected patients are insulin-resistant and may develop glucose intolerance and diabetes mellitus after age 20 years, hypertriglyceridemia, and low levels of high density lipoprotein cholesterol.

Clinical features from OMIM:

151660

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