[Familial hyperlipoproteinemias--correlations between phenotypes and genotypes].

Abstract

Within the grant project patients with familial hyperlipoproteinaemias have been examined. The examination was performed in the oldest lipid clinic and research laboratory in the world. The classification of lipid metabolism disorders was based upon a detailed biochemical analysis of plasma lipids including electrophoresis and assessment of apolipoprotein levels. Then optimal treatment regimen could be established. The project was aimed to evaluate the efficacy of different treatment regimens in different types of hyperlipoproteinaemias. Biochemical parameters and mainly the impact of treatment of hyperlipoproteinaemia on morphology and function of the vessel wall was monitored. The non-invasive ultrasound measurement of the intima thickness of carotid arteries was used. For more precise diagnosis of genetically determined disorders of lipid metabolism a large scale of methods of molecular biology was introduced. These methods enable confirmation of familial hypercholesterolaemia, familial defective apolipoprotein B-100 or studying polymorphism of apolipoprotein E. The effort of the authors of the project was to maximally utilise the results of basic and applied research in formulating recommendations for everyday practice of physicians.

• Authors: J Sobra, R Ceska, J Spácil, D Wichterle, V Slézka, A Horínek, M Kvasilová, R Procházková, J Stanková
• Journal: Casopis lekaru ceskych (Cas Lek Cesk) Vol. 139 Suppl 1 Pg. 13-5 (Dec 2000) ISSN: 0008-7335 [Print] Czech Republic
• Vernacular Title: Familiární hyperlipoproteinémie--korelace nálezů ve fenotypu s genotypem.
• PMID: 11262894 (Publication Type: English Abstract, Journal Article)

Topics

• Humans
• Hyperlipoproteinemias (drug therapy, genetics, metabolism, pathology)