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[Conditions](https://durgical.com/en/conditions/) · [Metabolism: cholesterol and lipoproteins](https://durgical.com/en/conditions/)

# 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.

- [Palatine tonsils](https://durgical.com/en/anatomy/palatine-tonsil/)
- [Cornea](https://durgical.com/en/anatomy/cornea/)
- [Spleen](https://durgical.com/en/anatomy/spleen/)
- [Liver](https://durgical.com/en/anatomy/liver/)

## In biochemistry

- [LCAT (lecithin–cholesterol acyltransferase)](https://durgical.com/en/biochemistry/enzymes/lcat/)
- [Lipoprotein metabolism](https://durgical.com/en/biochemistry/topics/lipoprotein-metabolism/)
- [HDL (high-density lipoprotein)](https://durgical.com/en/biochemistry/topics/hdl/)

## 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](https://durgical.com/en/anatomy/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](https://durgical.com/en/anatomy/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

## Red flags

- Orange tonsils in a child
- Almost undetectable HDL
- Progressive weakness or sensory loss

## 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](https://durgical.com/en/anatomy/spleen/) and [liver](https://durgical.com/en/anatomy/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.

[Add to my cards (3)](https://durgical.app/estudiar/?add=/en/conditions/tangier-disease/)

## Related conditions

- [Atherosclerosis and dyslipidaemia](https://durgical.com/en/conditions/atherosclerosis-and-dyslipidaemia/)

Educational information, not medical advice. For any symptom, see a health professional.

Sources: [Tangier disease: MedlinePlus Genetics](https://medlineplus.gov/genetics/condition/tangier-disease/) (MedlinePlus, US National Library of Medicine, 2026); [ABCA1 gene: MedlinePlus Genetics](https://medlineplus.gov/genetics/gene/abca1/) (MedlinePlus, US National Library of Medicine, 2026).

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Source: https://durgical.com/en/conditions/tangier-disease/
License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/conditions/tangier-disease/