Familial homozygous hypercholesterolemia in children: early diagnosis and treatment

Familial homozygous hypercholesterolemia is a rare life-threatening disease, the prevalence is 1: 160,000-1: 320,000. The main manifestation of the disease is an extremely high level of low-density lipoprotein cholesterol (more than 13 mmol / l), which causes early atherosclerotic vascular lesions, including coronary arteries, starting from the first decade of life, and can lead to myocardial infarction in childhood. Familial homozygous hypercholesterolemia remains a little-known disease in the clinical practice of the pediatrician; it leads to delayed diagnosis and late initiation of therapy. The most common cause of the disease is mutations in the LDLR (90%) gene, less often in the APOB (5–10%), PCSK9 (1%), LDLRAP1 (1%) genes. The article presents the criteria for the diagnosis of familial homozygous hypercholesterolemia in children. The authors discuss clinical manifestations on the skin and at the level of the cardiovascular system, eyes. They present the strategy of management and the possibilities of treating patients. The paper presents the indications for the appointment and the effectiveness of statins, ezetrol, monoclonal antibodies to PCSK9, apheresis for the treatment of the disease. It discusses prospects for further therapy.

Aortic Root Enlargement and Aortic Valve Replacement for Calcified Supravalvular and Valvular Aortic Stenosis in Homozygous Familial Hypercholesterolemia: A Case Report

Familial homozygous hypercholesterolemia is a rare disease with diverse clinical presentations ranging from premature ischemic heart disease to aortic root stenosis but rarely presents with anginal symptoms due to supravalvular and valvular aortic stenosis. We report a 19-year-old male patient with familial homozygous hypercholesterolemia with progressive supravalvular and valvular aortic stenosis that ultimately required aortic root enlargement and aortic valve replacement using a mechanical prosthesis, despite aggressive medical therapy. Surgical importance of this rare condition is highlighted.