Fast Five Quiz: Heterozygous Familial Hypercholesterolemia Presentation and Diagnosis

Romesh Khardori, MD, PhD


February 15, 2023

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder that results in elevated blood cholesterol levels and a markedly increased risk for atherosclerosis and premature coronary artery disease. Although it is commonly perceived as a rare condition, FH affects about 1 in 200-220 of the population globally and is broadly underdiagnosed and undertreated, making it an important public health concern. It is estimated that only 10% of individuals with FH have been formally diagnosed.

Several types of FH have been identified; among them, heterozygous FH is the most common. When left untreated, individuals with heterozygous FH are significantly more likely to have onset of coronary heart disease by the age of 55 years (men) and 60 years (women).

How much do you know about the presentation and diagnosis heterozygous FH? Test yourself with this quick quiz.