Hypocholesterolemia: an important symptom of rare diseases

Abstract

Hypocholesterolemia is an important symptom that may indicate the presence of severe hereditary metabolic disease or acquired secondary pathology. This lecture discusses the criteria for hypocholesterolemia in children, issues of cholesterol metabolism and its disorders, and the most common causes of hypocholesteremia. Issues of pathogenesis, clinical picture, diagnosis, and treatment of cholesterol synthesis disorders (Smith–Lemli–Opitz syndrome) and abetalipoproteinemia are considered in detail, and clinical cases of patients with these diseases are presented. Key words: hereditary metabolic diseases, hypocholesterolemia, Smith–Lemli–Opitz syndrome, abetalipoproteinemia