Fast Five Quiz: Heterozygous Familial Hypercholesterolemia Presentation and Diagnosis

Romesh Khardori, MD, PhD


June 03, 2020

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 1 in 200-250 of the population globally and is broadly underdiagnosed and undertreated, making it an important public health concern.

Several types of FH have been identified; among them, heterozygous FH is the most common. 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); half of untreated men and 15% of untreated women will die before those ages.

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


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