Other Names for this Disease
- Hypobetalipoproteinemia, familial
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cholesterol in the blood. The severity of the condition varies widely. Mildly affected people may have no signs or symptoms. Many affected people develop an abnormal buildup of fats in the liver (called hepatic steatosis, or fatty liver). In severe cases, this may progress to cirrhosis. Some people also have digestive problems in childhood, resulting in failure to thrive. FHBL is usually caused by mutations in the APOB gene. In a few cases, it may be caused by mutations in other genes, or the cause may be unknown. It is inherited in an autosomal codominant manner; a mutation in one copy of the APOB gene can cause the condition, but changes in both copies of the gene cause more severe symptoms. Management may include reducing fat in the diet and vitamin E supplementation.Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's ability to absorb and transport fats, causing low levels of
Last updated: 6/9/2015
- Familial hypobetalipoproteinemia. Genetics Home Reference (GHR). August 2012; http://ghr.nlm.nih.gov/condition/familial-hypobetalipoproteinemia.
- Benlian P. Familial hypobetalipoproteinemia. Orphanet. May 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=426.
- Genetics Home Reference (GHR) contains information on Familial hypobetalipoproteinemia. This website is maintained by the National Library of Medicine.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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 hypobetalipoproteinemia. Click on the link to view a sample search on this topic.