Xanthomatosis typically occurs with hyperlipidemia, and tendon xanthomas are seen most commonly in familial hypercholesterolemia, a disorder associated with an increase in the plasma level of low-density lipoproteins. However, xanthomas are occasionally found in the absence of hyperlipidemia. For many years such lesions were unexplained, but recent investigations have shown that most cases of normolipidemic xanthomatosis are the result of various defects in the metabolism of sterols or lipoproteins. Although tendon and cutaneous xanthomas are not life-threatening, the defect causing them may predispose patients to atherosclerotic coronary heart disease. For this reason, normolipidemic patients with xanthomas should not be considered.
ASJC Scopus subject areas