Phenotypical features of heterozygous familial hypercholesterolemia in individuals with LDLR or APOB gene mutations

Abstract

Familial hypercholesterolemia (FHCH) is a hereditary autosomal dominant disease, characterised by lipid metabolism disturbances and high plasma levels of low-density lipoprotein cholesterol (LDL–CH). Aim. To compare lipid metabolism parameters in patients with various genetic variants of FHCH, and to assess the sensitivity and specificity of biochemical markers for FHCH diagnostics in the relatives of probands. Material and methods. Lipid metabolism parameters were compared in 123 non-treated patients with genetically confirmed FHCH diagnosis (98 and 5 with LDLR or APOB mutations, respectively) and their healthy relatives without LDLR or APOB mutations. Results. Similarly to European populations, the Russian population was characterised by higher levels of total CH (TCH) and LDL–CH among patients with LDLR mutations, compared to patients with APOB mutations. In the FHCH diagnostics among relatives, biochemical markers demonstrated high sensitivity (93%) and specificity (82%). Despite lower LDL–CH levels, these diagnostic criteria were also effective in patients with APOB mutations. Conclusion. In the Russian population, biochemical criteria could be recommended for FHCH diagnostics in the relatives of FHCH probands.

Keywords

• familial hypercholesterolemia
• ldlr and apob gene mutations
• diagnostic criteria