Pleomorphic xanthomas: A clue to rare familial hypercholesterolemia

Xanthomas are the subcutaneous lipid deposits which can be seen in normolipedemic or hyperlipidemic conditions. Xanathomas are usually of single type and presence of polymorphic xanthomas arise suspicion of dyslipidemia. We report a case of young girl presenting with pleomorphic xanthomas (Xanthelasma palpebrarum, intertriginous Xanthomas, tendon Xanthomas, and eruptive xanthomas), hypothyroidism and multiple cardiac valvular involvements with very high serum total cholesterol and low-density lipoprotein along with deranged lipid profile in both parents. Pleomorphic xanthoma arouses a suspicion and helped in making a diagnosis of rare homozygous familial hypercholesterolemia.

Abstract licence: CC BY-NC-SA

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