Familial hypercholesterolemia (FH) is an inherited condition that causes abnormally high levels of LDL (low density lipoprotein) cholesterol beginning at birth. When too much LDL cholesterol is present in the blood stream, it builds up in the walls of the arteries and increases the risk of heart attacks and heart disease. Men with FH may have heart attacks in their 40s to 50s, and women with FH may have them in their 50s to 60s. FH is most commonly caused by mutations in the LDLR gene and is usually inherited in an autosomal dominant manner. More rarely, it may be caused by mutations in other genes and can be inherited in an autosomal recessive manner. Treatment focuses on lowering LDL cholesterol levels in the blood and may include dietary modification and medication.
- Learning About Familial Hypercholesterolemia. NHGRI. March 23, 2011; http://www.genome.gov/25520184. Accessed 10/22/2013.
- Pascale Benlian. Familial hypercholesterolemia. Orphanet. July 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=406. Accessed 10/22/2013.
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- Gidding SS. Familial hypercholesterolemia: a decade of progress. J Pediatr. 2010 Feb;156(2):176-7.