Understanding Lab Tests for Tangier Disease
Written by Private MD Labs Medical Writing Team • Last Updated: September 8, 2025
Tangier disease is an extremely rare genetic disorder that affects the body's ability to transport and process cholesterol and other lipids. This condition is characterized by severely low levels of high-density lipoprotein (HDL) cholesterol and distinctive clinical features including enlarged orange-colored tonsils and early cardiovascular disease.
Recommended Test
Heart Attack Risk Assessment: Apo A1 & Apo B
This test measures apolipoprotein A1 (Apo A1) and apolipoprotein B (Apo B) levels in the blood. In Tangier disease, Apo A1 levels are extremely low or nearly absent due to genetic mutations affecting the ABCA1 transporter protein. This dramatic reduction in Apo A1 is a key diagnostic marker that helps confirm the presence of this rare genetic condition and distinguishes it from other causes of low HDL cholesterol.
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Diagnosing Tangier Disease Through Blood Testing
While clinical examination reveals characteristic signs like enlarged orange tonsils, the definitive diagnosis of Tangier disease relies heavily on specific blood tests that measure lipoproteins and apolipoproteins. These tests can detect the hallmark biochemical abnormalities that distinguish this rare condition from other lipid disorders.
Understanding Your Test Results
In healthy individuals, apolipoprotein A1 levels typically range from 120-160 mg/dL for men and 140-180 mg/dL for women. However, patients with Tangier disease typically have Apo A1 levels below 5-10 mg/dL, representing a dramatic reduction that is virtually diagnostic of the condition when combined with clinical findings.
Important Considerations
The information here is for educational purposes only and is not a substitute for professional medical advice. Given the rarity of Tangier disease, consultation with a specialist in lipid disorders or medical genetics is essential for proper diagnosis and management. Always consult with a healthcare provider for diagnosis and treatment.
