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Diagnosing Familial Hypercholesterolemia: From Blood Tests to Genetic Screening
Published: Jan 01, 2024
Diagnosing familial hypercholesterolemia (FH) is crucial for early treatment and heart disease prevention. Learn about the tests doctors use to identify this genetic condition.
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.
Imaging Tests: Assessing Heart Health
For people diagnosed with FH, doctors may recommend additional tests to check for early signs of heart disease. These can include coronary calcium scans, which look for calcium buildup in heart arteries, or carotid ultrasounds to measure artery wall thickness. These tests help guide treatment decisions and monitor the effectiveness of cholesterol-lowering therapies.
Frequently Asked Questions
Experts recommend cholesterol screening for FH as early as age 2 in at-risk families.
Coverage varies, but many insurers now cover FH genetic testing.
Yes, but cholesterol levels change during pregnancy, so interpretation requires expertise.
Early Detection, Better Protection
Timely and accurate FH diagnosis enables early treatment, potentially preventing serious heart problems.
References
- Sturm AC, et al. J Am Coll Cardiol. 2018;72(6):662-680.
- Nordestgaard BG, et al. Eur Heart J. 2013;34(45):3478-3490.
- Watts GF, et al. Int J Cardiol. 2015;184:381-388.
This article has been reviewed for accuracy by one of the licensed medical doctors working for Doctronic. Always discuss health information with your healthcare provider.
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