How Many Patients with Severe Hypercholesterolemia Have FH?

Gene mutations for familial hypercholesterolemia were identified in only <2% of patients with LDL-cholesterol ≥190 mg/dL but were associated with poor outcomes.

Approximately 7% of U.S. adults have untreated LDL-cholesterol levels ≥190 mg/dL. Many clinicians incorrectly assume that such high levels are always due to familial hypercholesterolemia (FH), an autosomal dominant monogenic disorder that impairs hepatic clearance of LDL-cholesterol and causes a lifelong elevation of cholesterol. Yields from genetic studies focusing on individuals with severe hypercholesterolemia and clinically suspected FH have been wide-ranging (20%–80%). Researchers have now assessed the prevalence of FH mutations and their effect on risk for coronary artery disease (CAD) in a broader group of patients with LDL-cholesterol levels ≥190 mg/dL.

The researchers sequenced FH-causing genes (LDLR, APOB, PCSK9) in 26,025 particip…

Reviewing Author

Karol E. Watson, MD, PhD, FACC

Disclosures

Consultant/Advisory BoardBoehringer Ingelheim; Amgen; Novartis; Lilly; Amarin

Speaker’s BureauBoehringer Ingelheim

Grant/Research SupportNIH

Editorial BoardsCirculation (Associate Editor)