Understanding Lab Tests for Familial Hypertriglyceridemia

Written by Private MD Labs Medical Writing Team • Last Updated: September 8, 2025

Familial hypertriglyceridemia is a genetic disorder that causes the body to produce excessive amounts of triglycerides, leading to abnormally high levels of these fats in the bloodstream. This inherited condition significantly increases the risk of cardiovascular disease and requires ongoing monitoring through specific blood tests.

Recommended Test

Triglycerides

This test directly measures triglyceride levels in the blood, which is the primary diagnostic marker for familial hypertriglyceridemia. Consistently elevated triglyceride levels, particularly when they exceed 150 mg/dL and especially above 500 mg/dL, can indicate this genetic condition. Regular monitoring is crucial as high triglycerides increase cardiovascular risk, particularly when combined with other factors like high blood pressure or elevated LDL cholesterol.

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Diagnosing Familial Hypertriglyceridemia

Since familial hypertriglyceridemia often presents without obvious symptoms, blood testing is essential for diagnosis. The condition is typically identified when triglyceride levels are persistently elevated above normal ranges, especially when there is a family history of similar lipid abnormalities or early cardiovascular disease.

Understanding Your Results

Normal triglyceride levels are typically below 150 mg/dL. In familial hypertriglyceridemia, levels are often significantly higher and may require dietary modifications, medication, or both to manage cardiovascular risk. Regular testing helps monitor treatment effectiveness and adjust management strategies as needed.

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 of familial hypertriglyceridemia.

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