Xanthomas are observed in disorders of lipid and lipoprotein metabolism, as well as lymphoproliferative malignancies. Xanthomas can signalize an increased risk for dyslipidemia or disorders of lipid metabolism associated with serious metabolic and cardiovascular diseases, in addition to paraproteinemia and lymphoproliferative disorders. Some types of xanthoma are pathognomonic for special lipid disorders. The most prevalent xanthoma is xanthelasma palpebrarum, which, in association with tuberous and tendinous xanthomas, is typical for autosomal-dominant familial hypercholesterolemia, as along with some rare disorders of sterol metabolism, such as B-sitosterolemia and cerebrotendinous xanthomatosis. Eruptive xanthomas point to severe hypertriglyceridemia, decompensated type 2 diabetes mellitus, and increased risk for acute pancreatitis. Xanthoma striatum palmare is pathognomonic for primary dysbetalipoproteinemia associated with an elevated risk for early onset of coronary and peripheral vascular disease. Diffuse plane xanthomas are found in association with paraproteinemia and lymphoproliferative disorders. The occurrence of xanthomas should alert the dermatologist to unravel its cause and potential risk constellations. This chapter provides basic information on disorders of lipid metabolism associated with xanthoma formation.
CITATION STYLE
Melnik, B. (2022). Disorders of lipid metabolism. In Braun-Falco’s Dermatology (pp. 1629–1646). Springer Berlin Heidelberg. https://doi.org/10.1007/978-3-662-63709-8_89
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