Fast Five Quiz: Heterozygous Familial Hypercholesterolemia Presentation and Diagnosis

Romesh Khardori, MD, PhD


February 15, 2023

Tendon xanthomas are a common presenting symptom, and most patients (60%) with untreated heterozygous FH develop tendon xanthomas by the third decade of life. However, tendon xanthomas are not pathognomonic for heterozygous FH, and careful differential diagnosis is required. Specifically, extensor tendon xanthomas (primarily Achilles, subpatellar, and hand extensor tendons) with significantly high low-density lipoprotein (LDL) cholesterol levels are specific for FH.

Tendon xanthomas in patients with heterozygous FH are often not readily apparent upon simple inspection. Careful palpation may be needed to detect Achilles tendon xanthomas. A tendon with discrete irregularities or a diffusely thickened tendon is indicative of a xanthoma.

Similar to tendon xanthomas, xanthelasmas are not pathognomonic for heterozygous FH and may appear in older individuals with cholesterol levels in normal range.

Learn more about the signs and symptoms of heterozygous FH.


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