Family hypercholesterolemia revealed by myocardial infarction: Case report and literature data

Abstract

Introduction: Familial hypercholesterolemia is a monogenetic, autosomal dominant, heterozygous predominant disease that affects 1/500 births and only 20% of cases are diagnosed. Diagnosis is based on the MedPed score, which includes family history, clinical manifestations, complications, and hypercholesterolemia determined by biological tests with genetic confirmation of the mutation. Complications occur early, before the age of 55 in men and 60 in women, and are even more virulent in the homozygous form. Thus, we relate this clinical case to its underestimation, low prevalence, and especially its virulence. Case Report: A 31-year-old, non-obese patient with a history of stroke in the mother at the age of 52 years, acute coronary syndrome on two occasions at the age of 44 years in the older brother. He was admitted to the hospital with a revascularized myocardial infarction in the right coronary artery by primary angioplasty. The clinical examination was normal, the lipid profile showed hypercholesterolemia (HCT) with low-density lipoprotein (LDL)-CT=3.64 g/L, high-density lipoprotein (HDL)-CT=0.32 g/L, and triglyceride (TG)=2.1 g/L. The MedPed score was 12 points with one copy of the LDL receptor gene on the genetic sample. The patient received high-dose lipid-lowering drugs combined with healthy dietary measures. Genetic screening of the rest of the family was performed. Conclusion: Familial hypercholesterolemia is a poorly understood disease, diagnosed late, usually after the onset of complications, requiring early family screening, drug treatment with very potent lipid-lowering drugs at a tolerated effective dose, as early as eight years of age if the diagnosis is confirmed based on the MedPed score.