Expert Review 06

Familial Hypercholesterolemia Genetic Diagnosis and Cascade Testing Using NGS

At present, FH is greatly underdiagnosed, and most cases are not discovered until the affected individual suffers his or her first cardiovascular event. Even then, the patient’s hypercholesterolemia may not arouse the suspicion of FH. Since the most effective way to find patients with FH is by performing “cascade screening” within the family after a proband is diagnosed, this unnoticed association has severe consequences.
This paper introduces the clinical diagnosis, indicators and symptoms, and treatment of FH, before examining the background and current status of genetic testing for FH, and new best practices enabled by Next Generation Sequencing. 
This whitepaper is authored by Peter Benedek and Kristina Duvefelt, Karolinska University Hospital, Stockholm, Sweden.

What you'll learn

  • Clinical diagnosis, indicators and symptoms, and treatment of FH
  • Background and current status of genetic testing for FH
  • New best practices enabled by Next Generation Sequencing

Whitepaper preview

Familial hypercholesterolemia (FH) is an autosomal dominant hereditary disorder associated with high levels of LDL-cholesterol, and early onset cardiovascular disease and death. The prevalence of FH in its heterozygous form has been estimated to be as common as 1 per 200. In contrast, it is rather rare in the homozygous form (1 per 1 million) other than in certain closed populations where consanguineous relationships increase the risk of homozygous FH.
At present, FH is greatly underdiagnosed, and most cases are not discovered until the affected individual suffers his or her first cardiovascular event. Even then, the patient’s hypercholesterolemia may not arouse the suspicion of FH. Since the most effective way to find patients with FH is by performing “cascade screening” within the family after a proband is diagnosed, this unnoticed association has severe consequences.

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