Familial Hypercholesterolemia (FH) is not a rare disorder, but it is rarely diagnosed. As a genetic disorder that limits the liver’s ability to process cholesterol, FH leads to dangerously high cholesterol levels and is often mistaken for other disorders caused solely by unhealthy lifestyle choices. Left undetected and untreated, it can lead to aggressive and early heart disease, heart attack, or stroke.

To determine if you might have FH, consider how your cholesterol level compares with what your cholesterol should be and what your family medical history reveals about your genetic risk.

When To Suspect FH

If you have a family history of early heart disease or heart attacks (before age 60 in men and before age 70 in women), you are at risk for FH. It is important to meet with an FH Specialist to discuss your family history and also measure the amount of cholesterol in your blood, and compare the readings with what your cholesterol should be.

High cholesterol, specifically elevated levels of “bad” LDL cholesterol, is a primary indicator of FH. When LDL levels are extremely high there are sometimes also visible signs of FH. These include:

• Yellowish fatty bumps or lumps around the knuckles, elbows, and knees.
• Swollen or painful Achilles tendons.
• Yellowish areas around the eyes or a greyish white ring or arc near the colored part of the eye.

What Your Cholesterol Should Be

The following guidelines are from the National Institutes of Health Heart, Lung and Blood Institute (cholesterol levels are measured in milligrams (mg) of cholesterol per deciliter (dL) of blood):

Total Cholesterol Level

Less than 200 mg/dL — Desirable

200-239 mg/dL — Borderline High

240 mg/dL and above — High

LDL Cholesterol Level

Less than 100 mg/dL — Optimal

100-129 mg/dL — Near optimal/above optimal

130-159 mg/dL — Borderline high

160-189 mg/dL — High

190 mg/dL and above — Very high

FH is suspected when LDL-cholesterol is above 190 mg/dL in adults and above 160 mg/dL in children without cholesterol-lowering treatment.

Diagnosing FH

Higher-than-normal LDL levels, coupled with a family medical history of premature heart disease, is usually enough for a clinical diagnosis of FH. An FH diagnosis can be fully confirmed by a genetic test. Consult a cardiologist, lipid specialist (expert in cholesterol disorders) or genetic counselor knowledgeable in FH if you suspect you have the disorder.

Targeting Your LDL

Managing LDL cholesterol is the main focus of FH treatment. According to the Mayo Clinic, your target LDL number can vary, depending on your underlying risk of heart disease. If you have FH, your target LDL may be below 100 mg/dL or you may even need to aim for an LDL level below 70 mg/dL. It is important to consult with your doctor to determine what your cholesterol should be, taking into consideration any other risk factors for heart disease, such as FH. Because FH is a genetic condition medication is the key component of treatment.

For more information about Familial Hypercholesterolemia (FH), contact theFamily Heart Foundation, a patient-centered non-profit organization dedicated to education, advocacy and research of Familial Hypercholesterolemia.