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01.12.2016 | case report | Ausgabe 23-24/2016

Wiener klinische Wochenschrift 23-24/2016

Genetic testing of familial hypercholesterolemia in a real clinical setting

Zeitschrift:
Wiener klinische Wochenschrift > Ausgabe 23-24/2016
Autoren:
PhD., M.D. Branislav Vohnout, Dominika Gabcova, Miroslava Huckova, Iwar Klimes, Daniela Gasperikova, Katarina Raslova

Summary

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder characterized by strikingly elevated low-density lipoprotein (LDL) cholesterol levels and premature atherosclerosis. For individuals with a definite or probable diagnosis of FH, molecular genetic testing is recommended. This can be justified in countries where genetic testing is broadly available and covered. On the other hand, in countries with limited access to genetic testing, it can be argued whether it is necessary and cost-effective to perform genetic testing in patients with a proven clinical diagnosis of FH. This article presents a family with FH where different family members manifested different phenotypes and discusses situations where genetic diagnosis can crucially help physicians in clinical decision-making on how to approach and treat patients.

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