Lipodystrophy, familial partial, type 2

Common Name(s)

Lipodystrophy, familial partial, type 2

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 {11:Garg, 2004}). The disorder may be misdiagnosed as Cushing disease (see {219080}) ({16:Kobberling and Dunnigan, 1986}; {11:Garg, 2004}). Genetic Heterogeneity of Familial Partial Lipodystrophy Familial partial lipodystrophy is a clinically and genetically heterogeneous disorder. Types 1 and 2 were originally described as clinical subtypes: type 1 (FPLD1; {608600}), characterized by loss of subcutaneous fat confined to the limbs ({17:Kobberling et al., 1975}), and FPLD2, characterized by loss of subcutaneous fat from the limbs and trunk ({7:Dunnigan et al., 1974}; {16:Kobberling and Dunnigan, 1986}). No genetic basis for FPLD1 has yet been delineated. FPLD3 ({604367}) is caused by mutation in the PPARG gene ({601487}) on chromosome 3p25; FPLD4 ({613877}) is caused by mutation in the PLIN1 gene ({170290}) on chromosome 15q26; FPLD5 ({615238}) is caused by mutation in the CIDEC gene ({612120}) on chromosome 3p25; and FPLD6 ({615980}) is caused by mutation in the LIPE gene ({151750}) on chromosome 19q13.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lipodystrophy, familial partial, type 2" for support, advocacy or research.

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Lipodystrophy United

​Lipodystrophy United is an organization of committed individuals living strong with Lipodystrophy. Our mission is to provide an interactive community, facilitating support & education for anyone affected by this rare disease. We serve as a resource & to increase awareness in the general population as well as the medical & insurance communities. We advocate & act as a catalyst for new patient diagnosis by assisting healthcare professionals in understanding Lipodystrophy trends, physical attributes & clinical symptoms in order to aid in the advancement of knowledge, treatment & future research.

Last Updated: 30 Nov 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lipodystrophy, familial partial, type 2" for support, advocacy or research.

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Lipodystrophy United

​Lipodystrophy United is an organization of committed individuals living strong with Lipodystrophy. Our mission is to provide an interactive community, facilitating support & education for anyone affected by this rare disease. We serve as a resource & to increase awareness in the general population as well as the medical & insurance communities. We advocate & act as a catalyst for new patient diagnosis by assisting healthcare professionals in understanding Lipodystrophy trends, physical attributes & clinical symptoms in order to aid in the advancement of knowledge, treatment & future research.

http://www.lipodystrophyunited.org/

Last Updated: 30 Nov 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Lipodystrophy, familial partial, type 2" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Lipodystrophy, familial partial, type 2" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With With Familial Partial Lipodystrophy (FPL)
 

Status: Recruiting

Condition Summary: Familial Partial Lipodystrophy

 

Last Updated: 28 Jun 2018

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