Inherited disorders of cholesterol metabolism in children: clinical and biochemical basis for differential diagnosis
Year: 2026
Type: article
Abstract: Inherited disorders of cholesterol metabolism have diverse clinical and laboratory manifestations. Cholesterol concentration may be elevated or reduced and, in some patients, remains within age-specific reference limits. Persistent isolated elevation of lowdensity lipoprotein cholesterol (LDL-C) is most typical of familial hypercholesterolemia. When elevated LDL-C is accompanied by liver involvement, splenomegaly, or complete blood count abnormalities, sitosterolemia, lysosomal acid lipase deficiency, and other inherited storage disorders should be excluded. Defects of cholesterol biosynthesis may present with congenital anomalies and developmental delay despite a normal standard lipid profile. Inherited disorders of bile acid synthesis present with cholestasis, malabsorption, and fat-soluble vitamin deficiency; neurological manifestations occur in selected disorders. This review compares disorders affecting different steps of cholesterol metabolism, their clinical and laboratory features, and the selection of specialized biochemical and molecular genetic tests.
Language: English
Subfield: Biochemistry
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W7224136557