Homozygous familial hypercholesterolemia in a child: A clinical effect of regular lipoprotein apheresis in a multispecialty children’s hospital

Homozygous familial hypercholesterolemia (HoFH) is a rare inherited condition associated with extremely elevated levels of total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C), leading to early vascular atherosclerosis. Here we report a clinical observation of a girl with early-onset multiple xanthomatosis (the age of clinical symptom onset was 1.5 years) and a genetically confirmed homozygous variant, c.1729T>C, in the LDLR gene (p.W577R). The diagnosis was established at the age of 3 (TC up to 25 mmol/L; TC level time profile remained at 23.5 mmol/L, LDL-C 22.1 mmol/L). However, a targeted lipidlowering diet was not arranged in a consistent manner, and the drug therapy was not conducted, which reflected physicians' poor awareness and lack of routing of patients. The patient has been followed at the Z. A. Bashlyaeva Children's City Clinical Hospital of the Moscow Health Department (Competence Center for Screening and Treatment of Lipid Disorders in Children and Adolescents) since the age of 6.5 years. All attempts to choose any beneficial combination lipid-lowering pharmacotherapy (rosuvastatin, ezetimibe, evolocumab) have not yielded a clinically significant effect. Due to refractory hyperlipidemia, regular therapeutic apheresis (1–3 procedures per month; 62 sessions by July 2025) was initiated on December 22, 2022, which resulted in acute decreases in total cholesterol and LDL-cholesterol by 40–70% after each procedure. Significant regression of xanthomatosis, a decrease in the intima-media thickness of the common carotid arteries, coronary artery stabilization, and achievement of target blood pressure values were observed. This case stresses the utmost importance of early routing of patients, family screening, and combined treatment with high-intensity pharmacotherapy and regular lipoprotein apheresis to reduce cholesterol deposits on any part of the body in patients with impaired mechanisms of clearance of cholesterol and to stabilize vascular changes in children with HoFH.

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