Endocrine Abstracts

Familial hypercholesterolemia (HF) is a rare hereditary dyslipidemia characterized by a major elevation of LDLc, cutaneo-tendinous xanthomas and atheromatous manifestations. This anomaly exposes a high vascular risk, more than 50% for men and 30% for women, occurring early.

Observations: We report four cases of HF from the same family, three girls and one boy and whose parents are affected by hypercholesterolemia. The average age of patients is 11 years. Only the eldest siblings present tendon xanthomas. The mean total cholesterol is 3.45 g/l, the average LDLc is 2.80 g/l, the mean HDLc level is 0.37 g/l, the average triglyceride level is 1.30 g/l. The search for vascular and cardiac repercussions was negative outside aortic narrowing in the elder. For lack of means the genetic diagnosis could not be made.

Discussion: Xanthomas were the main manifestation in this family. The presence of these clinical signs led to the prescription of a biological check-up in search of a lipid perturbation and of early vascular pathologies. Familial hypercholesterolemia results from a lack of binding and internalization of LDL through the LDL receptor. Identification of the mutation should be systematically performed. Genetic diagnosis provides diagnostic certainty and facilitates family screening.