How do i find out if i have familial hypercholesterolemia?

Bloodwork: 1/500 folks have 1-dose disease; 2-dose disease is rare, striking and would probably be diagnosed already. Very high LDL cholesterol despite healthy lifestyle, a family history, and often certain bumps ("xanthomas") that your physician can recognize are suggestive. A geneticist can make the diagnosis using dna, but the key is managing the cholesterol. Stay proactive, and good luck.

Tests: You should the discuss the matter with your doctor as it may require performing multiple tests, in succession on you and your family members. The first one would be to have blood lipids tested in fasting state and depending on those results, other tests and tests on family members may be needed. Confirmation of the diagnosis may require molecular testing.

Cholesterol Testing: Familial hypercholesterolemia is a genetically inherited condition causing extremely high cholesterol levels from birth, with increased lifetime risk of cardiovascular disease, often accompanied by external signs of high cholesterol (but not always) such as cholesterol deposits in the tendons (xanthoma) around the eyes (xanthelasma) or in the eye (corneal arcs) lipid levels&family history are key.