Conditions · Metabolism: cholesterol and lipoproteins
Tangier disease !
A rare inherited disorder in which cells cannot pass cholesterol to HDL; HDL almost disappears and cholesterol builds up in organs.
Updated 2026-11-01
Structures involved
Tap one to see what it is and open it in 3D.
In biochemistry
What it is
An autosomal recessive disorder caused by loss of the ABCA1 transporter, which prevents loading cholesterol and phospholipid onto ApoA-I to form HDL.
Who gets it
Very rare: about 100 cases described worldwide, though more are probably undiagnosed. It is named after Tangier Island (United States), where it was described.
Causes
- Two ABCA1 gene variants
- Autosomal recessive inheritance; carriers have low HDL
Risk factors
- Carrier parents
- Related parents
Pathophysiology
Without ABCA1, ApoA-I gets no lipid and the kidney clears it fast: HDL almost disappears. Cholesterol that cannot leave cells is esterified and accumulates in macrophages of tonsils, spleen, liver, lymph nodes, cornea, nerves and arteries.
Symptoms and signs
- Enlarged yellow-orange tonsils (very typical)
- Enlarged spleen and liver
- Peripheral neuropathy (weakness or sensory loss)
- Mild corneal clouding
- Early coronary disease in some cases
Diagnosis
- Clinical
- Orange tonsils, splenomegaly and neuropathy in a person with very low HDL.
- Tests
- Near-absent HDL and very low ApoA-I, low total cholesterol with normal or slightly high triglycerides; ABCA1 genetic testing; nerve conduction studies.
- Imaging
- Abdominal ultrasound for spleen and liver; cardiovascular imaging as symptoms dictate.
Treatment
- Conservative
- No specific treatment; cardiovascular risk factors are controlled
- Surgical
- Tonsillectomy or splenectomy when they cause problems
- Rehabilitation
- Rehabilitation for neuropathy
- Follow-up
- Neurological and cardiovascular follow-up
Complications
- Progressive neuropathy
- Premature coronary disease
- Thrombocytopenia from hypersplenism
Test yourself
Think of the answer, then tap the question to see it.
Which transporter is missing in Tangier disease?
ABCA1, which moves cholesterol and phospholipid from cells to ApoA-I.
Which throat sign is typical of this disease?
Large yellow-orange tonsils from cholesteryl ester deposits.
Why does HDL almost disappear?
Lipid-free ApoA-I does not mature into HDL and the kidney clears it quickly.
Related conditions
Educational information, not medical advice. For any symptom, see a health professional.
Sources: Tangier disease: MedlinePlus Genetics (MedlinePlus, US National Library of Medicine, 2026); ABCA1 gene: MedlinePlus Genetics (MedlinePlus, US National Library of Medicine, 2026).
Spotted a mistake?We are always improving for the community. Tell us what is wrong and our team will review it.Report a mistake
Representative model, for educational purposes only.
