What is Familial Hypercholesterolemia?
Familial Hypercholesterolemia is a genetic disease which refers to individual with very high levels of LDL Cholesterol (Bad Cholesterol) . These patients are at increased risk of early onset of coronary artery disease (Blockage in heart arteries) if not diagnosed and treated early.
How common is Familial Hypercholesterolemia?
Familial Hypercholesterolemia is one of the most common genetic disease affecting approximately 1 in 250 individuals. Affected men and women who are untreated have 30 % to 50 % cardiac events by the age of 50 and 60 years respectively .
How do you know if you have Familial Hypercholesterolemia?
If one parent has a Familial Hypercholesterolemia, each child has 50 % chance of getting disease.
Suspect Familial Hypercholesterolemia if
- You have LDL cholesterol level > 190 mg/dl
- Family history of early heart disease
- Swallon or painful Achilles tendon
- Bumps around the knuckles, elbow or knee

Is Familial Hypercholesterolemia treatable? Heart disease due to Familial Hypercholesterolemia is largely preventable with early and intensive treatment using statin, ezetimibe and with other drugs. But some times LDL levels can not be brought to desired range either due to very high levels or due to drug intolerance. In that condition , patient may require injection PCSK-9 inhibitors once a month. But early identification and treatment of individual is the key