Does anyone know how familial hypercholesterolemia is diagnosed?

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.

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).

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.