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Genetic and Rare Diseases Information Center (GARD)

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Familial hypobetalipoproteinemia


Other Names for this Disease

  • Hypobetalipoproteinemia, familial
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Overview

Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's ability to absorb and transport fats.[1] This condition is characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.[2] The severity of signs and symptoms experienced by people with FHBL vary widely, from minor problems with absorbing fats from the diet and no related signs and symptoms to an abnormal buildup of fats in the liver (hepatic steatosis or fatty liver) which can progress to chronic liver disease. Most cases of FHBL are caused by mutations in the APOB gene. A small number of cases of familial hypobetalipoproteinemia are caused by mutations in the ANGPTL3 or PCSK9 gene. Some people with this condition do not have identified mutations in any of these genes. Changes in other, unidentified genes are therefore likely involved in this condition.[1]
Last updated: 6/7/2013

References

  1. Familial hypobetalipoproteinemia. Genetics Home Reference (GHR). August 2012; http://ghr.nlm.nih.gov/condition/familial-hypobetalipoproteinemia. Accessed 6/7/2013.
  2. Benlian P. Familial hypobetalipoproteinemia. Orphanet. May 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=426. Accessed 6/7/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Familial hypobetalipoproteinemia. This website is maintained by the National Library of Medicine.

In Depth Information

  • 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 hypobetalipoproteinemia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hypobetalipoproteinemia, familial
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.