Abstract
Xanthomas are well circumscribed lesions in the connective tissue of the skin, tendons or fascias that predominantly consist of foam cells; these specific cells are formed from macrophages as a result of excessive uptake of low density lipoprotein (LDL) particles and their oxidative modification. Pathogenetic mechanisms involved in the development of xanthomas resemble early stages of atherogenesis.
In clinical practice, xanthomas can signalize various congenital or acquired dyslipidemias. Tendinous and tuberous xanthomas are typical for autosomal dominant hypercholesterolemia, as well as for some rare conditions, such as cerebrotendinous xanthomatosis and familial b-sitosterolemia.
In patients with familial hypercholesterolemia, the presence of tendinous xanthomas has been shown to be associated with two to four times higher risk for cardiovascular disease. Eruptive xanthomas are skin manifestations of a severe hypertriglyceridemia and implicate an elevated risk for acute pancreatitis or type 2 diabetes mellitus.
Xanthoma striatum palmare is pathognomic for primary dysbetalipoproteinemia. The most prevalent form of xanthomas is xanthelasma palpebrarum.
Until recently it considered to be a benign cosmetic lesion, is connected with an increased cardiovascular risk and reduced average lifespan. Diffuse plane xanthomas are frequently associated with paraproteinemia and lymphoproliferative disorders.