Familial homozygous hypercholesterolemia with arcus cornea and xanthomas: A rare but serious entity

家族性纯合子高胆固醇血症伴角膜环和黄瘤:一种罕见但严重的疾病

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Abstract

Familial hypercholesterolemia (FH) is a rare but life-threatening disorder. Skin manifestations can be its only manifestation. We present a case of a fifteen-year-old female child, with multiple eruptive xanthomas, xanthomas anarcus, and a deranged lipid profile consistent with FH. The presence of this manifestation especially in the younger age group should draw attention to hypercholesterolemia. A timely diagnosis is fundamental to prevent serious complications and for early treatment.

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