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Fig. 1: Physical signs of heterozygous familial hypercholesterolemia (HeFH), which result from cholesterol deposited within macrophages in specific sites. Tendinous xanthomas, for example, manifest first as thickening of, and later as deposits within, extensor tendons. A: Lateral borders of thickened Achilles' tendons are shown with arrows. B: Tendinous xanthomas can also occur in the extensor tendons of the hands (shown), feet, elbows and knees. C: Xanthelasmas are cholesterol deposits in the eyelids. D: Arcus cornealis results from cholesterol infiltration around the corneal rim (arrow). Deposits in and around the eye tend to be more specific for HeFH in people younger than 45 years; in elderly people, they are less likely to be associated with blood lipoprotein abnormalities, for instance in the case of arcus senilis.
Some patients may report having observed cutaneous cholesterol deposition in response to a functional enquiry. People with HeFH have been known to undergo cosmetic eyelid surgery to remove xanthelasmas — even repeatedly, for lesions that continued to recur — without ever having had their plasma lipoprotein profiles determined.
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