LES XANTHOMATOSES HYPERLIPIDEMIQUES: AU-DELA DE LA RARETE, QUELLE PRISE EN CHARGE ?

Xanthomas are benign pseudo tumors, often linked to a disorder of lipoprotein metabolism and which require screening.We report the case of a 33-year-old young adult, with no significant medical history, who consulted for painless yellowish nodules progressively appearing over the past year on the limbs. Cutaneous and mucosal examination reveals small smooth-surfaced nodules, orange-yellow in color, painless, non-pruritic, of varying sizes, located on the forearms, elbows, hands, knees, ears and posterior surface of the neck. The histopathological study of a skin nodule biopsy suggests lipid overload, confirming the diagnosis of xanthomas. The lipid profile, conducted after a 12-hour fast, shows hypertriglyceridemia at 10.28 g/L, hypercholesterolemia at 7.79 g/L, elevated LDL cholesterol levels at 3.64 g/L and decreased HDL cholesterol levels at 0.31 g/L. Thyroid function tests and cardiovascular investigations are unremarkable. The diagnosis of familial combined hyperlipidemia type III, according to the Fredrickson classification is established.The patient is prescribed lifestyle modifications along with treatment consisting of daily pravastatin 40mg and fenofibrate 160mg. The patients condition shows improvement with regression of these lesions.Xanthomatoses linked to familial hypercholesterolemia are very rare. This condition can significantly impact patients lives due to its complications, particularly coronary complications, despite well-managed medical treatment.