What is Familial Hyperlipidemia?
Familial hyperlipidemia is 1 of the most common autosomal dominant inheritance genetic disorder which is frequently undiagnosed and leads to unnecessary increased risk of many cardiovascular events including myocardial infarction, cardiomyopathy, strokes, as well as peripheral vascular disease. Since potent medications are available including statins and more recently, the PCSK9 inhibitor agents, it is important to identify these situations. Patients with this condition have a greater than 22 times the average risk for atherosclerotic events compared to the general population.
The following our guidelines for diagnosis
LDL greater than 250 in a patient age 30 years or more LDL greater than 224 patients aged 22 to 29 years
LDL greater than 190 in patients under 20 years
Clinically, besides the lab value, they may have corneal arcus, tendon xanthomas, or premature vascular disease. Family members are affected because this is a autosomal dominant inheritance.
BLOOD test: CIRCULOGENE test for Familial Hyperlipidemia
This is a genetic test, and requires a blood sample. Many insurance companies are not willing to pay for this test, and therefore it is an out‐of‐pocket expense for the patient but, if the test is positive, there will be no denial of treatment options which include expensive medications such as the PCSK9 inhibitors. It will allow for more aggressive treatments, reduction in cardiovascular complications, and better screening of other family members who are also at high risk.