How do I know if I have Familial Hypercholesterolemia?

Familial Hypercholesterolemia (FH) is a genetic condition characterized by abnormally high levels of LDL ("bad") cholesterol from birth, which significantly increases the risk of premature cardiovascular disease. You may suspect Familial Hypercholesterolemia if you have a personal history of very high cholesterol that does not respond adequately to diet and exercise, or a family history of heart attacks at a young age.

What are the warning signs of Familial Hypercholesterolemia?

Unlike common high cholesterol, Familial Hypercholesterolemia is present from birth. Because it is often "silent," many people do not know they have it until a cardiac event occurs. However, physical signs can include xanthomas (fatty deposits under the skin, often on knuckles or elbows) or corneal arcus (a pale ring around the iris in people under 45). If you notice these, or if you have a first-degree relative who suffered a heart attack before age 55 (men) or 65 (women), you should investigate the possibility of Familial Hypercholesterolemia.

How can I self-assess my risk for Familial Hypercholesterolemia?

You can look for specific patterns in your health history and family tree to determine if Familial Hypercholesterolemia might be the cause of your high lipid levels:

• Your untreated LDL cholesterol level is consistently above 190 mg/dL.


• A family member was diagnosed with premature coronary artery disease.


• You have a known family history of Familial Hypercholesterolemia.


• Healthy lifestyle changes, such as diet and exercise, have little impact on your cholesterol numbers.

When should I see a doctor and what tests should I request?

If you suspect Familial Hypercholesterolemia, request a formal lipid panel. If your results are persistently high, ask your physician specifically about "cascade screening," which involves testing family members to identify other relatives who may also have the condition. You may also request a referral to a lipidologist or a cardiologist who specializes in genetic lipid disorders to discuss genetic testing, which can confirm the diagnosis of Familial Hypercholesterolemia by identifying mutations in genes like LDLR, APOB, or PCSK9.

Next steps

• Schedule an appointment with your GP and bring a written summary of your family’s heart health history.


• Ask for a referral to a lipid specialist if your LDL remains high despite treatment.


• Join our community at DiseaseMaps.org to connect with 14 other members navigating Familial Hypercholesterolemia.


• Advocate for yourself by asking: "Could my high cholesterol be genetic rather than lifestyle-driven?"

Medical disclaimer: This content is for informational purposes only and does not substitute professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases (GARD) Information Center: Familial Hypercholesterolemia.


• Orphanet: Familial Hypercholesterolemia (ORPHA:456).


• OMIM (Online Mendelian Inheritance in Man): Entry #143890.


• The FH Foundation: Patient resources and clinical guidelines.