Diagnosing Familial Hypercholesterolemia: From Blood Tests to Genetic Screening

Lipid Panel: The First Clue

The journey to an FH diagnosis often starts with a simple blood test called a lipid panel. This test measures various types of cholesterol and triglycerides in your blood. For FH, doctors look for very high levels of total and LDL (bad) cholesterol. In adults, total cholesterol over 300 mg/dL or LDL over 190 mg/dL can suggest FH, especially if they occur at a young age or despite a healthy lifestyle.

Clinical Criteria: Putting the Pieces Together

Doctors use standardized criteria to diagnose FH based on a combination of factors. The Dutch Lipid Clinic Network criteria and the Simon Broome criteria are two common systems. These take into account cholesterol levels, physical signs (like tendon xanthomas), family history of high cholesterol and early heart disease, and genetic test results. A score is calculated to determine if FH is possible, probable, or definite.

Genetic Testing: Confirming the Diagnosis

While not always necessary, genetic testing can provide a definitive FH diagnosis. This involves analyzing DNA from a blood sample to look for mutations in genes like LDLR, APOB, and PCSK9. Genetic testing can also help identify family members who may have inherited FH but don't yet have high cholesterol. However, it's important to note that current tests don't detect all possible FH-causing mutations.

Frequently Asked Questions

Key Takeaways

Timely and accurate FH diagnosis enables early treatment, potentially preventing serious heart problems.

Related Articles

• What is Familial Hypercholesterolemia and Why Should You Care?
• Treating Familial Hypercholesterolemia: A Guide to Lowering Sky-High Cholesterol
• Are You at Risk for Familial Hypercholesterolemia? Key Factors to Know
• Managing Familial Hypercholesterolemia: Expert Guidelines for Patients and Doctors

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