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Diseases

Genetic and Rare Diseases Information Center (GARD)

Familial partial lipodystrophy type 2


Other Names for this Disease
  • FPLD2
  • Lipodystrophy, familial partial, Dunnigan type
  • Lipodystrophy, familial, of limbs and lower trunk
  • Lipodystrophy, reverse partial
  • Lipoatrophic diabetes
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Familial partial lipodystrophy type 2 is a rare genetic condition that affects the amount and distribution of fat in the body. It is characterized by a loss of fatty tissue from the torso, buttocks, and limbs and a buildup of fat in the face, neck, shoulders and abdomen.[1][2][3] Symptoms typically develop around puberty. This condition can be associated with a number of metabolic complications, including insulin resistance, high blood cholesterol levels (dyslipidemia), diabetes, and liver steatosis.[1][2] These metabolic complications lead to an increased risk for cardiovascular disease.[1] Familial partial lipodystrophy type 2 is caused by mutations in the LMNA gene.[1][2][3] It is inherited in an autosomal dominant manner.[1][2] Treatment includes correction of metabolic abnormalities and management of complications through diet, exercise, and medications.[1]   
Last updated: 7/3/2016

References

  1. Vigouroux C. Familial partial lipodystrophy, Dunnigan type. Orphanet. February 2015; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2348.
  2. Garg A. Familial Partial Lipodystrophy. National Organization for Rare Disorders (NORD). 2015; http://rarediseases.org/rare-diseases/familial-partial-lipodystrophy/.
  3. LMNA. Genetics Home Reference (GHR). August 2013; https://ghr.nlm.nih.gov/gene/LMNA.
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Basic Information

  • 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) is a catalog of human genes and genetic disorders. Each entry has 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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial partial lipodystrophy type 2. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • FPLD2
  • Lipodystrophy, familial partial, Dunnigan type
  • Lipodystrophy, familial, of limbs and lower trunk
  • Lipodystrophy, reverse partial
  • Lipoatrophic diabetes
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.