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Cracking the Cholesterol Code: How Doctors Diagnose Familial Hypercholesterolemia
Published: Dec 13, 2023
Diagnosing Familial Hypercholesterolemia (FH) is like solving a medical mystery. It requires a combination of clues from your body, your family history, and sophisticated lab tests.
The Lipid Profile: Your Cholesterol Fingerprint
The first step in diagnosing FH is usually a simple blood test called a lipid profile. This test measures different types of fats in your blood, including LDL (bad) cholesterol. In FH, LDL levels are typically sky-high - often over 190 mg/dL in adults. However, a high LDL alone isn't enough to diagnose FH.
Family Detective Work
Since FH runs in families, your doctor will ask about your family's health history. Early heart attacks, high cholesterol, or sudden deaths in relatives are important clues. They'll also look for physical signs like yellowish patches around your eyes or lumps on your tendons, which can occur in FH.
Genetic Testing: The DNA Decoder
To confirm an FH diagnosis, doctors may recommend genetic testing. This involves analyzing your DNA for mutations in genes like LDLR, PCSK9, or APOB. Finding one of these mutations confirms FH. However, not everyone with FH has a detectable mutation, so genetic testing isn't always necessary for diagnosis.
Frequently Asked Questions
No, it's not always necessary but can be helpful in some cases.
It's very accurate when combining clinical criteria and genetic testing.
Yes, other rare disorders can mimic FH symptoms.
Putting the Pieces Together
Accurate FH diagnosis combines clinical signs, family history, cholesterol levels, and sometimes genetic testing.
References
- Nordestgaard BG, et al. Eur Heart J 2013; 34:3478.
- Khera AV, et al. J Am Coll Cardiol 2016; 67:2578.
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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