5 Things You Didn’t Know About Familial Hypercholesterolemia

1. It’s Genetic

A hereditary condition, familial hypercholesterolemia (FH) affects roughly 1 in 500 people around the world, according to the National Institutes of Health. Because the disorder is present at birth, someone with familial hypercholesterolemia may suffer heart attacks at a very early age

2. There are Two Types

When chromosome 19 has a certain defect, someone will have familial hypercholesterolemia. To inherit heterozygous FH, the person needs only to get the gene from one parent, not both. Though rare, both parents can pass the gene on to a child, causing homozygous FH, which is causes an even more severe increase in cholesterol.

3. There Might Not be Symptoms

Early on, it is possible that someone living with the condition will show no signs of it other than high levels of LDL cholesterol. Later in life, however, someone with familial hypercholesterolemia is likely to experience deposits of fatty skin on the knees, hands, elbows, and ankles. There may also be sores that never heal located on the toes.

4. Increased Risk of Coronary Disease

The National Organization for Rare Disorders reports that people who have familial hypercholesterolemia have 20 times the risk of developing coronary heart disease. Men with untreated FH are at a 50 percent risk rate of experiencing a coronary by the time they turn 50. Similarly, untreated women run a 30 percent risk of having coronary before they’re 60.

5. Few People are Diagnosed

According to the Familial Hypercholesterolemia Foundation, only 1 percent to 10 percent of the up to 2 million Americans living with the disease have been diagnosed. Certain populations are more likely to have the disorder, including French Canadians and Lebanese people.