Fast Five Quiz: Heterozygous Familial Hypercholesterolemia Presentation and Diagnosis

Romesh Khardori, MD, PhD


February 15, 2023

Physical examination findings of individuals with heterozygous FH may include corneal arcus in individuals younger than 45 years of age; tendon xanthomas and tuberous xanthomas or xanthelasma that present at an early age should also trigger suspicion for FH. However, physical findings are not always present in individuals with heterozygous FH.

In individuals in whom an acute coronary event has not already occurred, symptoms consistent with ischemic heart disease are common, particularly when other cardiovascular risk factors, such as smoking, are present. In addition, patients with heterozygous FH will have a long-standing history of severe hypercholesterolemia.

Learn more about the presentation of heterozygous FH.


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