Termedia.pl
 
 
ISSN: 1505-8409
Przewodnik Lekarza/Guide for GPs
Current issue Archive About the journal Supplements Contact Instructions for authors
3/2006
vol. 9
 
Share:
Share:
more
 
 
abstract:

Familial hipercholesterolemia – pathogenesis, clinic and management

Longina Kłosiewicz-Latoszek
,
Barbara Cybulska

Przew Lek 2006; 3: 80-86
Online publish date: 2006/05/04
View full text
Get citation
ENW
EndNote
BIB
JabRef, Mendeley
RIS
Papers, Reference Manager, RefWorks, Zotero
AMA
APA
Chicago
Harvard
MLA
Vancouver
 
Familial hypercholesterolemia (FH) is a genetic disorder, which occurs in two forms, as homozygous FH with frequency 1/1 000 000 persons or heterozygous FH with frequency 1/500 persons, what makes about 78 000 cases in Poland. The lack of LDL receptors or deficiency of half of LDL receptors, due to various mutations of genes encoding the proteins of these receptors, is responsible for homozygous FH or heterozygous FH respectively. Familial FH is a very strong risk factor for premature CHD. The diagnosis of this disorder is based on high LDL cholesterol level in the patient and his close relatives. Additionally xanthomata, particularly of tendon, are present in some cases. Strong statins are drugs of choice for heterozygous FH treatment. Atorvastatin in a daily dose of 80 mg and rosuvastatin (not registered in Poland) are particularly recommended. In future the combination therapy with statins and ezetimibe (still not available in Poland) may be an option. LDL-apheresis at 1 to 2 weekly intervals is the best method of treatment of homozygous FH. For all the time patients should be treated with a strong statin.
keywords:

familial hypercholesterolemia, pathogenesis, clinic, diagnostics, pharmacoteraphy, LDL-apheresis

Quick links
© 2021 Termedia Sp. z o.o. All rights reserved.
Developed by Bentus.
PayU - płatności internetowe