Understanding Lab Tests for Familial hypercholesterolemia
Written by Private MD Labs Medical Writing Team • Last Updated: September 8, 2025
Familial hypercholesterolemia (FH) is an inherited genetic disorder that causes extremely high levels of low-density lipoprotein (LDL) cholesterol from birth. This condition significantly increases the risk of premature coronary artery disease and heart attacks, often occurring in individuals in their 30s, 40s, or 50s.
Recommended Test
Direct LDL
This test directly measures LDL cholesterol levels in the blood, which is the key marker for diagnosing familial hypercholesterolemia. People with this genetic disorder typically have LDL cholesterol levels above 190 mg/dL (and often much higher), making this test essential for both diagnosis and ongoing monitoring of treatment effectiveness.
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Diagnosing Familial Hypercholesterolemia
While genetic testing can confirm the specific mutation, blood tests measuring cholesterol levels are the primary diagnostic tool for familial hypercholesterolemia. The diagnosis is typically based on extremely elevated LDL cholesterol levels, family history of high cholesterol and early heart disease, and physical signs such as cholesterol deposits.
Why Early Detection Matters
Early diagnosis of familial hypercholesterolemia is crucial because it allows for prompt treatment with cholesterol-lowering medications and lifestyle modifications. Without treatment, individuals with FH have a significantly increased risk of developing cardiovascular disease at a young age. Regular monitoring with Direct LDL testing helps healthcare providers adjust treatment plans to achieve target cholesterol levels.
Important Considerations
The information here is for educational purposes only and is not a substitute for professional medical advice. Always consult with a healthcare provider for diagnosis and treatment.
