Homozygous Form of Familial Defect of Apo B-100 (FDB) in a 7-Year Girl

Czech version

Authors: J. Hyánek ¹; T. Freiberger ²; H. Grombiříková ²; V. Kuhrová ³; V. Martiníková ¹; L. Dubská ¹; J. Dvořáková ¹; M. Loučka ⁴; H. Přindišová ⁵; D. Janatová ⁶; H. Jenčová ¹
Authors‘ workplace: Metabolická ambulance, Oddělení klinické biochemie, Nemocnice Na Homolce, Praha přednosta prim. MUDr. M. Průcha, PhD. ¹; Centrum kardiovaskulární a transplantační chirurgie, Brno ředitel prof. MUDr. J. Černý, CSc. ²; FN Brno – Centrum molekulární biologie a genové terapie vedoucí ing. D. Dvořáková, CSc. ³; Ústav matematiky a statistiky VŠCHT, Praha vedoucí ing. M. Loučka, CSc. ⁴; Radiodiagnostické oddělení, Nemocnice Na Homolce, Praha primářka MUDr. J. Janoušková, CSc. ⁵; Ordinace pro děti a dorost, Nemocnice s poliklinikou, Brandýs nad Labem-Stará Boleslav vedoucí MUDr. D. Ptáčková ⁶
Published in: Čes-slov Pediat 2005; 60 (6): 349-353.
Category: Original Papers

Overview

The authors describe a child patient with a homozygous form of familial hypercholesterolemia due to the deficit of gene for Apo B-100 (Familial Defective Apolipoprotein B-100) found for the first time in the Czech cardiovascular population at risk. Both parents are typical heterozygotes with high cardiovascular risk in familial anamnesis, treated with statins for the high level of cholesterol. The female proband lacks any clinical symptoms with the exception of high level of total cholesterol of 11.7 mmol/l (LDL-C 10.6 mmol/l), which was efficiently decreased only after the statin therapy, which was started even in the pre-pubertal period for the high cardiovascular risk.

Key words:
familial defect of apolipoprotein B-100 (FDB), child dyslipidemia, statins in children