A case of type 3 familial hyperlipoproteinemia

Xanthoma is a papule or a nodale which is secondary to lipid deposition. It may represent a clinical feature of some types of hyperlipoproteinemia such as familial dysbetalipoproteinemia (FD). FD is a rare disease due to the alteration of a single gene codifying for apoprotein E which mediates the hepatic uptake of chylomicron remnants and of LDL. The consequence is the plasmatic increase of both cholesterol and triglycerides. The coexistence of a primary (i.e. familial hypercholesterolemia or hypertrygliceridemia) or a secondary (i.e. diabetes mellitus, hypothyroidism, obesity and chronic renal failure) hyperlipidemic condition is needed for the clinical expression of FD. Cutaneous involvment of FD is characterized by acral (knees, elbow, buttocks) tuberous and tubero-eruptive xanthomas and by tendinous xanthomas. In some cases palmar creases assume a pathognomonic orange-yellowish hue ('xanthochromia striata palmaris').