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Genetic and Rare Diseases Information Center (GARD)

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Familial avascular necrosis of the femoral head


Other Names for this Disease

  • Familial osteonecrosis of the femoral head
  • Primary avascular necrosis of the femoral head
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Overview

Avascular necrosis of the femoral head (ANFH) is a degenerative condition which causes the upper ends of the thigh bones (femurs) to break down due to an inadequate blood supply and deficient bone repair. It can lead to pain and limping and cause the legs to be of unequal length.[1] The prevalence of ANFH is unknown but around 15,000 cases are reported each year in the United States, with most cases being associated with mechanical disruption (hip trauma or surgery), hypofibrinolysis (a reduced ability to dissolve clots), steroid use, smoking, alcohol intake, hemoglobinopathies and hyperlipidemia (an increase in the amount of fat - such as cholesterol and triglycerides - in the blood). Familial forms of ANFH appear to be very rare, with only a few families reported in the medical literature. Age of onset in these familial cases ranges from 15-48 years (as opposed to between 3rd to 5th decade of life for other forms of ANFH). Transmission in familial cases is autosomal dominant and mutations in the type II collagen gene (COL2A1) have been detected in affected family members.[2]
Last updated: 5/8/2012

References

  1. COL2A1. Genetics Home Reference (GHR). July 2008; http://ghr.nlm.nih.gov/gene/COL2A1. Accessed 5/8/2012.
  2. Le Merrer M. Familial avascular necrosis of femoral head. Orphanet. May 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86820. Accessed 5/8/2012.
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Basic Information

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

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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 avascular necrosis of the femoral head. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Familial osteonecrosis of the femoral head
  • Primary avascular necrosis of the femoral head
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.