What do we know and what can we really do for families with familial hypercholesterolemia: case report
Authors:
Katarína Rašlová 1; Miloslava Hučková 2
Authors‘ workplace:
Koordinačné centrum pre FHLP, SZU, Bratislava
1; Biomedicínske centrum SAV, Bratislava
2
Published in:
AtheroRev 2017; 2(3): 181-183
Category:
Overview
Familial hypercholesterolemia is a disorder which does not “hurt”. The brief case report presents the story of a patient in which neither he or his family were compliant with therapy and the family was even opposed to cascade screening, although familial hypercholesterolemia was confirmed in them. The case report shows the need of psychological intervention.
Key words:
familial hypercholesterolemia, hypolipidemic treatment,lipid profile, MedPed project
Sources
1. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolaemia. In: Scriver CR, Beaudet AL, Sly WS et al (eds). The metabolic and molecular bases of inherited disease. 7th ed. McGraw-Hill: New York 1995: 1981–2030. ISBN 978–0070607293.
2. OosterveerDM, Versmissen J, Yazdanpanah M et al. The risk of tendon xanthomas in familial hypercholesterolemia is influenced by variation in genes of the reverse cholesterol transport patheway and the low density lipoprotein oxidation pathway. Eur Heart J 2010; 31(8): 1007–1012. Dostupné z DOI: <http://dx.doi.org/10.1093/eurheartj/ehp538>.
3. Sharifi M, Futema M, Nair D et al. Genetic Architecture of Familial Hypercholesterolaemia. Curr Cardiol Rep 2017; 19(5): 44. Dostupné z DOI: <http://dx.doi.org/10.1007/s11886–017–0848–8>.
4. Williams RR, Schumacher C, Barlow G et al. Documented need for more effective diagnosis and treatment of familial hypercholesterolaemia according to data from 502 heterozygotes in Utah. Am J Cardiol 1993; 72(10):18D–24D.
Labels
Angiology Diabetology Internal medicine Cardiology General practitioner for adultsArticle was published in
Athero Review
2017 Issue 3
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