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.
About the Authors
A. N. Meshkov
Russian Cardiology Scientific and Clinical Complex
Russian Federation
Moscow
Russian Federation
Moscow
A. I. Ershova
Russian Cardiology Scientific and Clinical Complex
Russian Federation
Moscow
Russian Federation
Moscow
N. V. Shcherbakova
Russian Cardiology Scientific and Clinical Complex
Russian Federation
Moscow
Russian Federation
Moscow
T. A. Rozhkova
Russian Cardiology Scientific and Clinical Complex
Russian Federation
Moscow
Russian Federation
Moscow
M. V. Kalinina
Russian Cardiology Scientific and Clinical Complex
Russian Federation
Moscow
Russian Federation
Moscow
V. V. Kukharchuk
Russian Cardiology Scientific and Clinical Complex
Russian Federation
Moscow
Russian Federation
Moscow
S. A. Boytsov
State Research Centre for Preventive Medicine
Russian Federation
Moscow
Russian Federation
Moscow
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Review
For citations:
Meshkov A.N., Ershova A.I., Shcherbakova N.V., Rozhkova T.A., Kalinina M.V., Kukharchuk V.V., Boytsov S.A. Phenotypical features of heterozygous familial hypercholesterolemia in individuals with LDLR or APOB gene mutations. Cardiovascular Therapy and Prevention. 2011;10(8):63-65. (In Russ.)
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