Learn About Familial Partial Lipodystrophy

What is the definition of Familial Partial Lipodystrophy?

Familial partial lipodystrophy is a rare condition characterized by an abnormal distribution of fatty (adipose) tissue. Adipose tissue is normally found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat as a source of energy and also provides cushioning. In people with familial partial lipodystrophy, adipose tissue is lost from the arms, legs, and hips, giving these parts of the body a very muscular appearance. The fat that cannot be stored in the limbs builds up around the face and neck, and inside the abdomen. Excess fat in these areas gives individuals an appearance described as "cushingoid," because it resembles the physical features associated with a hormonal disorder called Cushing disease. This abnormal fat distribution can begin anytime from childhood to adulthood.

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What are the causes of Familial Partial Lipodystrophy?

Familial partial lipodystrophy can be caused by mutations in several genes. Type 2 results from mutations in the LMNA gene. The other, less common forms of the disorder are caused by mutations in different genes.

How prevalent is Familial Partial Lipodystrophy?

Familial partial lipodystrophy is a rare disease, affecting an estimated 1 in 1 million people overall. Type 2 is the most common form, with more than 500 cases reported in the medical literature. Women tend to be diagnosed with familial partial lipodystrophy more often than men, probably because a loss of fat from the hips and limbs is more easily recognized in women, and complications such as diabetes and hypertriglyceridemia occur more commonly in women.

Is Familial Partial Lipodystrophy an inherited disorder?

Most cases of familial partial lipodystrophy, including type 2, are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

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What are the latest Familial Partial Lipodystrophy Clinical Trials?
Exploratory Study of the Relationships Between the Biomarkers of Inflammation, Lipidome and Insulin Resistance and Disorders of Glycemic Regulation in a Cohort of Insulin-resistant Subjects Due to Excess Weight or Dunnigan's Lipodystrophy
Summary: The objective of this work is to identify biomarkers of interest in patients with insulin resistance leading to early disorders of glycemic regulation. For this the investigators want to assay the insulin resistance marker Insulin Regulated Amino Peptidase serique (IRAPs), the plasma lipidome and inflammation markers in 2 populations of insulin-resistant subjects due to Dunnigan's inherited lipody...
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Phase 2 Study of Obeticholic Acid for Lipodystrophy Patients
Summary: Lipodystrophies are rare disorders characterized by selective loss of adipose tissue and predisposition to insulin resistance and its metabolic complications. Hepatic steatosis is a common complication in patients with partial and generalized lipodystrophies.Despite aggressive management of diabetes and hyperlipidemia, hepatic steatosis and its complications present a therapeutic challenge in many...
Who are the sources who wrote this article ?

Published Date: September 01, 2016Published By: National Institutes of Health

What are the Latest Advances for Familial Partial Lipodystrophy?
Selective targeting of angiopoietin-like 3 (ANGPTL3) with vupanorsen for the treatment of patients with familial partial lipodystrophy (FPLD): results of a proof-of-concept study.
Summary: Selective targeting of angiopoietin-like 3 (ANGPTL3) with vupanorsen for the treatment of patients with familial partial lipodystrophy (FPLD): results of a proof-of-concept study.
Case Report: Metreleptin Treatment in a Patient With a Novel Mutation for Familial Partial Lipodystrophy Type 3, Presenting With Uncontrolled Diabetes and Insulin Resistance.
Summary: Case Report: Metreleptin Treatment in a Patient With a Novel Mutation for Familial Partial Lipodystrophy Type 3, Presenting With Uncontrolled Diabetes and Insulin Resistance.
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Case Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/C.
Summary: Case Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/C.