May 15, 2017 · Familial hypercholesterolemia (FH) is the most common autosomal dominant genetic disease. The clinical syndrome (phenotype) is characterized by extremely elevated levels of low density lipoprotein cholesterol (LDL-C) and a propensity to early onset .
Apr 15, 2019 · Treatment is presented separately. (See "Familial hypercholesterolemia in adults: Treatment".) DEFINITIONS. Familial hypercholesterolemia (FH) is a genetic disease caused by mutation of one of the genes critical for low density lipoprotein cholesterol (LDL-C) catabolism.
Familial hypercholesterolemia is a common, inherited disorder of cholesterol metabolism that leads to early cardiovascular morbidity and mortality. It is underdiagnosed and undertreated. Statins, ezetimibe, bile acid sequestrants, niacin, lomitapide, mipomersen and LDL apheresis are treatments that.
Apr 29, 2017 · Familial hypercholesterolemia or FH is an inherited defect in how the body recycles LDL (bad) cholesterol. As a consequence, LDL levels in the blood remain very high – in untreated adults, above 190 milligrams per deciliter (mg/dL) of blood. People with FH are essentially born with high LDL.