National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Familial partial lipodystrophy


Other Names:
FPLD
Subtypes:
Familial partial lipodystrophy associated with PLIN1 mutations; Familial partial lipodystrophy associated with PPARG mutations; Familial partial lipodystrophy due to AKT2 mutations; Familial partial lipodystrophy associated with PLIN1 mutations; Familial partial lipodystrophy associated with PPARG mutations; Familial partial lipodystrophy due to AKT2 mutations; Familial partial lipodystrophy type 2; Familial partial lipodystrophy type Köbberling; LIPE-related familial partial lipodystrophy; Lipodystrophy, familial partial, type 5 See More
Familial partial lipodystrophy (FPLD) is a group of diseases characterized by an abnormal distribution of fat around the body. Specifically, fat is lost in the arms, legs, and hips, and gained around the face and liver. Symptoms usually develop around puberty and include problems breaking down food and resistance to the hormone that helps control blood sugar (insulin). Insulin resistance can eventually lead to diabetes. Other symptoms may include inflammation of the pancreas (pancreatitis), heart problems, and high blood pressure (hypertension). There are at least six subtypes of FPLD. The most common form is type 2.[1][2] 

Familial partial lipodystrophy can be caused by a change (mutation) in one of several genes. These genes are responsible for making proteins that play an important role in fat storage. Changes in any of these genes can reduce or eliminate the function of the proteins they produce. This impairs the development, structure, or function of the fat cells (adipocytes), making them unable to properly store and use fats.[1] The condition can be inherited in an autosomal dominant or autosomal recessive manner.[1][2] Treatment may require a team of specialists who can monitor the patient for any health changes and prescribe a special diet and medication to treat the symptoms of the disease.[2]
Last updated: 10/8/2016

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • The NORD Physician Guide for Familial partial lipodystrophy was developed as a free service of the National Organization for Rare Disorders (NORD) and it's medical advisors.  The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition. 

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Familial partial lipodystrophy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Familial partial lipodystrophy. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Familial partial lipodystrophy in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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  1. Familial partial lipodystrophy. Genetics Home Reference (GHR). September 2016; https://ghr.nlm.nih.gov/condition/familial-partial-lipodystrophy.
  2. Gard A. Familial Partial Lipodystrophy. National Organization for Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/familial-partial-lipodystrophy/.