Fast Five Quiz: Heterozygous Familial Hypercholesterolemia Presentation and Diagnosis

Romesh Khardori, MD, PhD


February 15, 2023

Figure 1. Cholesterol, scanning electron micrograph.

In patients with heterozygous FH, severe LDL cholesterol elevations in the absence of secondary causes of hypercholesterolemia are present, whereas high-density lipoprotein (HDL) cholesterol levels are within the reference range or slightly low. Triglyceride levels are within the reference range or slightly elevated.

LDL cholesterol levels are frequently above 250 mg/dL in patients with heterozygous FH, and this level usually increases with age. LDL cholesterol levels above 290-300 mg/dL are suggestive of heterozygous FH. A probable diagnosis can be made when patients present with LDL cholesterol levels above 330 mg/dL or if tendon xanthomas are present in a patient with an LDL cholesterol level above the 95th percentile. If serum triglycerides are substantially increased, another lipid disorder should be considered.

For additional information, refer to lipid management guidelines.

Learn more about lipid analysis in patients with heterozygous FH.


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