Homozygous Familial Hypercholesterolemia in a Seven-Year-Old: A Case Study Highlighting the Importance of Early Diagnosis

Familial hypercholesterolemia (FH) is a common autosomal dominant disorder characterized by markedly elevated low-density lipoprotein (LDL)-cholesterol levels and an increased risk of premature cardiovascular disease. The homozygous form, which is much rarer and more severe, manifests in early childhood with extremely high LDL-cholesterol levels and early-onset atherosclerosis. We report the case of a seven-year-old girl, born to consanguineous parents, presenting with tuberous and tendinous xanthomas. Her lipid profile revealed severe hypercholesterolemia (total cholesterol: 7.5 g/L; LDL-C: 6.82 g/L), low high-density lipoprotein-cholesterol (HDL-C) (0.29 g/L), and normal triglycerides. Echocardiography showed atheromatous lesions in the aortic arch. Molecular analysis identified a pathogenic homozygous mutation in the LDLR gene. Treatment with atorvastatin followed by ezetimibe was initiated, along with dietary and lifestyle modifications. Follow-up showed moderate regression of the atheromatous lesions. A six-month follow-up plan was established, and LDL apheresis was considered. This case highlights the importance of early screening, genetic confirmation, and intensive multidisciplinary management to prevent premature cardiovascular complications in children with homozygous familial hypercholesterolemia.