What are the signs and symptoms of familial hypercholesterolemia?

These physical signs of FH occur when extra cholesterol builds up in different parts of the body:

  • Bumps or lumps around your knees, knuckles, or elbows.
  • Swollen or painful Achilles tendon.
  • Yellowish areas around your eyes.
  • A whitish gray color in the shape of a half-moon on the outside of your cornea.

How serious is familial hypercholesterolemia?

People who have familial hypercholesterolemia have a higher risk of heart disease and death at a younger age. Heart attacks may occur before age 50 in men and age 60 in women. The rarer and more severe variety of the condition, if undiagnosed or untreated, can cause death before age 20.

How does FH cause early death?

The most common cause of death in people with FH is a sudden cardiac event. With FH, the buildup of low-density lipoprotein (LDL) cholesterol in your blood leads to early onset heart disease, which means you have an increased chance of having a heart attack at a young age.

Is familial hypercholesterolemia a disability?

Despite the risks high cholesterol carries, the condition alone is not enough to qualify for Social Security disability benefits.

Can hypercholesterolemia cause a stroke?

With high cholesterol, you can develop fatty deposits in your blood vessels. Eventually, these deposits grow, making it difficult for enough blood to flow through your arteries. Sometimes, those deposits can break suddenly and form a clot that causes a heart attack or stroke.

Can I live a long life with FH?

Life expectancy with FH is lower without treatment, but the sooner you receive a correct diagnosis and start medication, the better your outlook and life expectancy. FH is inherited from one or both of your parents and requires treatment with medication to lower your LDL cholesterol.

Can familial hypercholesterolemia skip a generation?

If a parent has FH, each of their children has a one in two chance of inheriting it. It cannot skip generations – you can’t pass on a gene if you don’t have it yourself.

Is FH a rare disease?

Recent studies have shown that FH is as common as 1 in 250, making it one of the most common genetic diseases. However, most individuals go undiagnosed and most are undertreated given their very high risk.

What are two diseases associated with hypercholesterolemia?

Diseases that are tied to high cholesterol include coronary heart disease, stroke, peripheral arterial disease, type 2 diabetes and high blood pressure.