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A 32-year-old member asked:

Does anyone know how familial hypercholesterolemia is diagnosed?

3 doctor answers6 doctors weighed in
Dr. Luis Villaplana
Internal Medicine 36 years experience
Lipid testing: A simple blood test will help your doctor determine whether you have a genetic disorder that makes it difficult for your body to maintain normal levels of cholesterol and triglycerides.
Dr. Zahid Ahmad
Endocrinology 18 years experience
Cholesterol and fam: Typical diagnostic criteria is: 1.) extremely high cholesterol 2.) someone else in the family with extremely high cholesterol, premature heart disease, and possibly tendon xanthomas. Or genetic testing (rarely needed).
Dr. William Cromwell
Clinical Lipidology 35 years experience
3 definititions: The diagnosis of familial hypercholesterolemia (fh) is made by a combination of cholesterol levels, family history of hypercholesterol and premature heart disease, a patients history of vascular disease, skin / eye findings of fh (xanthomas, corneal arcus), and possibly genetic tests. The dutch lipid clinic registry, simon-broom, and us medped definitions of fh use a combination of these factors.

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Last updated Oct 26, 2018
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