Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Schmidt, N; Klose, G; Schatz, U; Laufs, U; Marz, W.
Familial Hypercholesterolemia in Germany.
AKTUELLE KARDIOL. 2020; 9(04): 363-369.
Doi: 10.1055/a-1200-1404
Web of Science
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- Co-Autor*innen der Med Uni Graz
- März Winfried
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- Abstract:
- Familial hypercholesterolemia (FH) is a common, hereditary disorder of cholesterol metabolism. Heterozygous FH occurs with a frequency of similar to 1: 300 in the German population but is usually diagnosed too rarely and too late. The high cardiovascular risk of those affected can be reduced by early drug therapy. The suspected diagnosis is made based on clinical features such as elevated LDL cholesterol levels and cutaneous signs (xanthomas, xanthelasmas) as well as a conspicuous family history and is confirmed by molecular genetic analysis. Cascade screening is possible within affected families. Therapy should be performed according to existing and updated guidelines. In Germany, the care situation of FH patients is systematically recorded in a registry (CaRe High-Register). First evaluations show that FH patients in Germany are still undertreated.
- Find related publications in this database (Keywords)
- LDL cholesterol
- cardiovascular disease
- familial hypercholesterolemia