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Familial Hypercholesterolemia
Autosomal dominant disorder causing markedly elevated LDL cholesterol from birth and premature cardiovascular disease.
Also: FH
Most often caused by mutations in the LDL receptor gene; heterozygous FH affects roughly 1 in 250 people. Untreated, heterozygous FH leads to coronary disease in midlife; homozygous FH is severe and often presents in childhood. Treatment combines a heart-healthy dietary pattern with high-intensity statin therapy, ezetimibe, PCSK9 inhibitors, and family screening (cascade testing).
How one textbook covers it
Krause and Mahan's Food and the Nutrition Care Process, 16th ed. — Chapter 33
Most often caused by mutations in the LDL receptor gene; heterozygous FH affects roughly 1 in 250 people. Untreated, heterozygous FH leads to coronary disease in midlife; homozygous FH is severe and often presents in childhood. Treatment combines a heart-healthy dietary pattern with high-intensity statin therapy, ezetimibe, PCSK9 inhibitors, and family screening (cascade testing).
Related terms
ASCVD, LDL, Statins