Xanthomas Clinical Presentation

• A family history of xanthomas may be encountered in hereditary hyperlipoproteinemias.
• Prior history of myocardial infarction and other forms of atherosclerosis as well as pancreatitis may be encountered in some of the syndromes.
• Cutaneous manifestations may precede a diagnosis of hyperlipidemia.

Cutaneous xanthomas associated with hyperlipidemia can be clinically subdivided into xanthelasma palpebrarum, tuberous xanthoma, tendinous xanthoma, eruptive xanthoma, plane xanthoma, and generalized plane xanthoma. Xanthoma disseminatum and verruciform xanthoma are usually not associated with hyperlipidemia.

• Xanthelasma palpebrarum is the most common of the xanthomas. The lesions are asymptomatic and usually bilateral and symmetric. The lesions are soft, velvety, yellow, flat, polygonal papules around the eyelids. Xanthelasmas are most common in the upper eyelid near the inner canthus. Usually, the lesions have evolved for several months and enlarged slowly from a small papule. Xanthelasma may be associated with hyperlipidemia. When associated with hyperlipidemia, any type of primary hyperlipoproteinemia can be present. Some secondary hyperlipoproteinemias, such as cholestasis, may also be associated with xanthelasmas. See the image below. Xanthelasma. Courtesy of Duke University Medical Center.
• Tuberous xanthomas are firm, painless, red-yellow nodules. The lesions can coalesce to form multilobated tumors. Tuberous xanthomas usually develop in pressure areas, such as the extensor surfaces of the knees, the elbows, and the buttocks. Tuberous xanthomas are particularly associated with hypercholesterolemia and increased levels of LDL. They can be associated with familial dysbetalipoproteinemia and familial hypercholesterolemia, and they may be present in some of the secondary hyperlipidemias (eg, nephrotic syndrome, hypothyroidism). See the image below. Tuberous xanthomas. Courtesy of Duke University Medical Center.
• Tendinous xanthomas appear as slowly enlarging subcutaneous nodules related to the tendons or the ligaments. The most common locations are the extensor tendons of the hands, the feet, and the Achilles tendons. The lesions are often related to trauma. Tendinous xanthomas are associated with severe hypercholesterolemia and elevated LDL levels, particularly in the type IIa form.^[2] They can also be associated with some of the secondary hyperlipidemias, such as cholestasis.
• Eruptive xanthomas most commonly arise over the buttocks, the shoulders, and the extensor surfaces of the extremities. Rarely, the oral mucosa or the face may be affected. The lesions typically erupt as crops of small, red-yellow papules on an erythematous base, and they may spontaneously resolve over weeks. Pruritus is common, and the lesions may be tender. Eruptive xanthomas are associated with hypertriglyceridemia, particularly that associated with types I, IV, and V (high concentrations of VLDL and chylomicrons). They may also appear in secondary hyperlipidemias, particularly in diabetes.^[3] See the image below. Eruptive xanthomas. Courtesy of Duke University Medical Center.
• Plane xanthomas are mostly macular and rarely form elevated lesions. They can occur in any site. Involvement of the palmar creases is characteristic of type III dysbetalipoproteinemia. They can also be associated with secondary hyperlipidemias, especially in cholestasis. Generalized plane xanthomas can cover large areas of the face, the neck, and the thorax, and the flexures can also be involved. They may be associated with monoclonal gammopathy and hyperlipidemia, particularly hypertriglyceridemia.^{[4, 5]}
• Xanthoma disseminatum and verruciform xanthoma are particular forms of xanthomas that occur in normolipemic patients.^[6] Xanthoma disseminatum develops in adults as red-yellow papules and nodules with a predilection for the flexures. Characteristically, the mucosa of the upper part of the aerodigestive tract is involved. It has a benign clinical course and usually resolves spontaneously. Verruciform xanthoma predominantly occurs in the oral cavity of adults as a single papillomatous yellow lesion. Verruciform xanthoma is considered to be a reactive condition with benign behavior, and it is treated with local excision.

See Pathophysiology.