Familial hypercholesterolemia (FH) affects 1 in 250 individuals, and genetic testing for patients and families is an important part of diagnosis and management. Guest Seth Martin, MD, reviews FH risk factors, at what ages and when genetic testing is recommended, and the roles of a genetic counselor and other team members.

Related resources:

NLA Statement on Genetic Testing: https://www.lipid.org/nla/genetic-testing-dyslipidemia 

FH Diagnosis: Dutch & Simon Broome criteria: https://familyheart.org/diagnostic-criteria-for-familia-hypercholesterolemia2 

AHA criteria: https://www.ahajournals.org/doi/10.1161/JAHA.119.013225

Familial Hypercholesterolemia Resources from PCNA:

* What is Familial Hypercholesterolemia patient fact sheet: https://pcna.net/resource/what-is-familial-hypercholesterolemia-fact-sheet/

* What is Homozygous Familial Hypercholesterolemia (fact sheet for families): https://pcna.net/resource/what-is-homozygous-familial-hypercholesterolemia-fact-sheet/

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