TY - CHAP M1 - Book, Section TI - Chapter 135. Xanthomatoses and Lipoprotein Disorders A1 - Schaefer, Ernst J. A1 - Santos, Raul D. A2 - Goldsmith, Lowell A. A2 - Katz, Stephen I. A2 - Gilchrest, Barbara A. A2 - Paller, Amy S. A2 - Leffell, David J. A2 - Wolff, Klaus Y1 - 2012 N1 - T2 - Fitzpatrick's Dermatology in General Medicine, 8e AB - |PrintXanthomatoses and Lipoprotein Disorders at a GlanceSeveral lipoprotein disorders manifest as xanthomas, which contain cholesterol and triglycerides in macrophages.Tendinous xanthomas with thickening of the Achilles tendons and disposition in tendons on the hands, elbows, and knees are observed in familial hypercholesterolemia (FH), phytosterolemia, or cerebrotendinous xanthomatosis (CTX).Familial Hypercholesterolemia is diagnosed by finding a markedly elevated low-density lipoprotein (LDL) cholesterol level (usually >300 mg/dL), which can be treated with statins, ezetimibe, anion exchange resins and, if necessary, LDL apheresis.Xanthelasma on the eyelids are common and can be associated with elevated LDL cholesterol, but more often are seen in patients with normal lipids and treated cosmetically.Phytosterolemia, associated with moderately elevated LDL cholesterol levels and markedly elevated plasma β-sitosterol and campesterol, is best treated with ezetimibe.Cerebrotendinous xanthomatosis is due to markedly elevated plasma levels of cholestanol and therapy consists of oral chenodeoxycholate to prevent progression of xanthomas and neurologic disease.Tubo-eruptive, planar, and palmar xanthomas can be observed with combined hyperlipidemia as well as occasionally with marked high-density lipoprotein deficiency, and can be treated with dietary modification, statins, fibrates, and niacin.Eruptive xanthomas are usually due to severe hypertriglyceridemia (fasting level >1,000 mg/dL, with chylomicrons present), and are often transient.Patients with severe hypertriglyceridemia are at increased risk of pancreatitis and need to restrict dietary fat and sugars, control diabetes if present, and use fibrates and fish oil.Xanthomas are occasionally observed in patients with monoclonal gammopathies or multiple myeloma. SN - PB - The McGraw-Hill Companies CY - New York, NY Y2 - 2024/10/15 UR - accessmedicine.mhmedical.com/content.aspx?aid=56067589 ER -