Case conference concerning 9-year-old boy having 20 mmol/lcholesterol: from diagnosis to effective treatment

Familial hypercholesterolemia (FHC) is the most common and most severe form of monogenic dyslipidemia with early and rapidly progressing atherosclerosis and its complications [1--4, 12, 14]. Without treatment, the prognosis for patients with FHC is as heavy as for AIDS patients. For the first time t...

Full description

Saved in:

Bibliographic Details
Published in:	Medicinskij sovet no. 12; pp. 106 - 110
Main Authors:	AV Susekov, ZG Luginova, AN Meshkov, EY Solovyova, TV Balakhonova, MA Saidova, TI Kotkina, MY Scherbakova, VV Davydkin, MA Dubovenko, AY Postnov, ZB Khasanova, GA Konovalov, VV Kukharchuk
Format:	Journal Article
Language:	Russian
Published:	Remedium Group LLC 01-12-2014
Subjects:	cholesterol familial hypercholesterolemia inheritance low density lipoprotein monogenic dyslipidemia липопротеиды низкой плотности моногенная дислипидемия наследование семейная гиперхолестеринемия холестерин
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	Familial hypercholesterolemia (FHC) is the most common and most severe form of monogenic dyslipidemia with early and rapidly progressing atherosclerosis and its complications [1--4, 12, 14]. Without treatment, the prognosis for patients with FHC is as heavy as for AIDS patients. For the first time the molecular defect - absence or dysfunction of the LDL receptor (LDL-R), the main route for cholesterol catabolism in humans [2, 3, 12, 13] - was described with regard to this genetic disease. The article analyzes a clinical case of the disease in a 9-year-old boy.
ISSN:	2079-701X 2658-5790