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Diseases

Genetic and Rare Diseases Information Center (GARD)

Familial HDL deficiency


Other Names for this Disease
  • Hypoalphalipoproteinemia, familial
  • FHA
  • High density lipoprotein deficiency
  • HDLD
  • Hypoalphalipoproteinemia, primary
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Overview

Familial HDL deficiency is a rare genetic condition that causes low levels of "good" cholesterol (HDL) in the blood. HDL helps remove excess cholesterol and fats from your blood. People with familial HDL deficiency may develop cardiovascular disease at a relatively young age, often before age 50. This condition is caused by changes in the ABCA1 or the APOA1 genes. The deficiency is passed through families in an autosomal dominant pattern.[1]

More severely reduced levels of HDL in the blood is a characteristic feature of a related disorder called Tangier disease.
Last updated: 1/19/2016

References

  1. Familial HDL Deficiency. Genetics Home Reference. November 2012; http://ghr.nlm.nih.gov/condition/familial-hdl-deficiency. Accessed 1/19/2016.
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Basic Information

In Depth Information

  • 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 HDL deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hypoalphalipoproteinemia, familial
  • FHA
  • High density lipoprotein deficiency
  • HDLD
  • Hypoalphalipoproteinemia, primary
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.