Alirocumab as add‑on to the therapy of an adolescent with heterozygous familial hypercholesterolemia, early‑onset carotid atherosclerosis, and Alport syndrome: A clinical observation

Abstract

This article presents a clinical observation of a 17-year-old adolescent with genetically confirmed heterozygous familial hypercholesterolemia (HeFH), early-onset carotid atherosclerosis (ECAS), and concomitant Alport syndrome (AS). This patient with a strong family history of premature fatal myocardial infarction demonstrated significantly elevated levels of low-density lipoprotein cholesterol (LDL-C) up to 6.73 mmol/L at baseline. Molecular genetic testing confirmed the presence of an HeFH-causing variant in the LDLR gene. In addition, it identified a hereditary nephritis/AS-associated variant in the COL4A3 gene. Brachiocephalic artery ultrasound revealed early atherosclerotic changes in the carotid arteries. Despite a combination therapy of rosuvastatin (10 mg/day) and ezetimibe (10 mg/day), LDL-C levels remained above goal and were 3.3 mmol/L. Given the genetically confirmed FH, early-onset vascular lesions, elevated lipoprotein(a) levels, burdened family history, and concomitant AS, we decided to intensify lipid-lowering treatment without further increase of rosuvastatin dosing. The treatment regimen was modified by adding alirocumab. The patient showed a reduction of LDL-C levels to 0.88–1.18 mmol/L with alirocumab 150 mg once every 2 weeks as part of combination therapy. No adverse events were reported; creatinine, transaminase, and creatine phosphokinase levels were within acceptable limits. This observation showed the potential for an individual choice of lipid-lowering treatment in an adolescent with high-risk FH and concomitant hereditary nephropathy.