Family Hypercholesterolemia Revealed by Myocardial Infarction: Case Report and Literature Data.

Abstract

Introduction Familial hypercholesterolemia is a monogenetic, autosomal dominant, predominantly heterozygous disease that affects 1/500 births and only 20% of cases are diagnosed. Diagnosis is based on family history, clinical manifestations and complications, hypercholesterolemia on biological tests with genetic confirmation of the mutation by the MedPed score. Complications occur early, before the age of 55 in men and 60 in women, and are even more virulent in the homozygous form Case presentation We report the case of a 36-year-old, nonobese patient with a history of HF in the mother at age 52 years, complicated by stroke, and acute coronary syndrome on two occasions at age 44 years in the older brother. He was admitted to the hospital for a revascularized myocardial infarction in the right coronary artery by primary angioplasty. Clinical examination was normal, lipid profile showed hypercholesterolemia (HCT) with LDL-CT = 3.64 g/L, HDL-CT = 0.32 g/L and TG = 2.1g/L. The MedPed score was 12 points with a copy of the LDL receptor gene on the genetic sample. The patient received a high-dose statin combined with adherence to healthy dietary measures. Genetic screening of the rest of the family was performed. Conclusion HF is a common but not well understood disease. Diagnosis should be made very early when the disease is suspected using the MedPed score of possible(3–5 points), probable(6–8 points) and certain(> 8 points) with genetic confirmation. Screening should be done very early in the family with drug treatment from the age of 8 years if the diagnosis is confirmed.