Cracking the Cholesterol Code: How Doctors Diagnose Familial Hypercholesterolemia

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

Key Takeaways

Accurate FH diagnosis combines clinical signs, family history, cholesterol levels, and sometimes genetic testing.

Related Articles

• Familial Hypercholesterolemia: The Hidden Heart Threat in Your Genes
• The Silent Killer in Your Genes: Why Familial Hypercholesterolemia Threatens Young Hearts
• Fighting the FH Battle: Cutting-Edge Treatments for Familial Hypercholesterolemia
• Cracking the FH Code: Expert Guidelines for Managing Familial Hypercholesterolemia

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