Endocrine Abstracts

Introduction: Familial hypercholesterolemia is an autosomal dominant genetic disease linked to a mutation in 3 genes involved in the catabolism of LDL particles. It is characterized by an exclusive increase in low-density lipoproteins (LDL). It is associated with a high risk of premature cardiovascular complications. We report the case of a patient with familial hypercholesterolemia.

Case: 44-year-old patient, From a first-degree consanguineous marriage, with a history of: hypertension under treatment, deaths at an early age as well as hypercholesterolemia in the family. Her history of the disease dates back to the age of 7 years with the appearance of cutaneous xanthomas and xanthelasmas. The diagnosis of hypercholesterolemia was retained following family screening at the age of 33 years, treated with Rosuvastatin 40 mg. The evolution was marked by the development of severe coronary artery disease requiring double coronary bypass surgery. Clinical examination found tendon and skin xanthomas and xanthelasma. The biological work-up showed LDL-C: 5.41 g/l, HDL-C: 0.34 g/l, triglycerides (Tg): 0.88 g, total cholesterol (TC): 5.93 g/l, Lipoprotein electrophoresis (LPE) found: clear appearance, LDL: 83.3%, HDL: 12.5%, VLDL: 4.2%, ApoB measuring: 3.14 g/l. The diagnosis of familial hypercholesterolemia in the patient was retained: in view of the familyhistory of the first-degree relative with early coronary disease, the personal history of early coronarydisease, the presence of tendinous xanthomas, and the LDL-C level above 3.3 g/l according to the Dutch Lipid Clinic Network Score. The workup showed multiple bilateral atheromatous plaques in the carotid arteries and in the arteries of the lower limbs. The management of the patient consisted of a reinforcement of hygienic and dietary measures, with a combination of Rosuvastatin 40 mg per day, Ezetimib 10 mg per day and IPCSK9. The genetic study is essential but not available in Morocco, a cascade screening is proposed in her family.

Discussion & Conclusion: Familial hypercholesterolemia is often underdiagnosed and undertreated. The diagnosis is made according to the Dutch Lipid Clinic Score, which take into account LDL c levels, personal and/or family history of cardiovascular disease and clinical signs of dyslipidemia. Early diagnosis is important to treat the disease as early as possible and prevent cardiovascular complications.