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Genetic testing of familial hypercholesterolemia in a real clinical setting

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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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Acknowledgements

This work was supported by APVV 187-12 and Transendogen/26240220051 supported by the Research & Development Operational Program.

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Authors and Affiliations

  1. Co-ordination Center for Familial Hyperlipidemias, Slovak Medical University in Bratislava, Limbova 12, 833 03, Bratislava, Slovakia

    Branislav Vohnout PhD., M.D. & Katarina Raslova

  2. Institute of Nutrition, FOaZOS, Slovak Medical University in Bratislava, Bratislava, Slovakia

    Branislav Vohnout PhD., M.D.

  3. DIABGENE Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia

    Dominika Gabcova, Miroslava Huckova, Iwar Klimes & Daniela Gasperikova

Authors
  1. Branislav Vohnout PhD., M.D.
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  2. Dominika Gabcova
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  3. Miroslava Huckova
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  4. Iwar Klimes
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  5. Daniela Gasperikova
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  6. Katarina Raslova
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Corresponding author

Correspondence to Branislav Vohnout PhD., M.D..

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Conflict of interest

B. Vohnout, D. Gabcova, M. Huckova, I. Klimes, D. Gasperikova and K. Raslova declare that they have no competing interests.

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Vohnout, B., Gabcova, D., Huckova, M. et al. Genetic testing of familial hypercholesterolemia in a real clinical setting. Wien Klin Wochenschr 128, 916–921 (2016). https://doi.org/10.1007/s00508-016-1053-2

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  • DOI: https://doi.org/10.1007/s00508-016-1053-2

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