Familial hypercholesterolemia due to an heterozygous LDLR promoter mutation: a case report

Familial hypercholesterolemia is a disease caused by mutations in genes related to lipid metabolism, characterized by elevated low-density cholesterol, personal and family history of premature atherosclerotic cardiovascular disease. We present two cases with heterozygous mutation in the promoter of the low-density lipoprotein receptor gene c.-135C>G. The index case had low-density lipoprotein levels above 300 mg/dL at 10 years old, suffered a major cardiovascular event at the age of 40, and a stroke at 48. At the age of 52, a clinical geneticist built a genogram that suggested an autosomal dominant inheritance pattern of familial hypercholesterolemia and performed a molecular panel for the patient and her daughter at 26 years old. Both cases presented therapeutic failure with lovastatin monotherapy. A significant reduction in cholesterol levels was achieved with dual therapy, in the case 1 with alirocumab+rosuvastatin and case 2 with atorvastatin+ezetimibe.