Tangier Disease (ABCA1)

Rare autosomal recessive disorder of HDL metabolism caused by ABCA1 mutations.

Written by: Saygı Hospital Health Guide Editorial Board

Last updated: June 11, 2026

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Endokrinoloji department. Book Appointment →

What is Tangier Disease (ABCA1)?

Tangier disease is a rare autosomal recessive disorder caused by loss-of-function mutations in the ABCA1 gene, which is essential for cellular cholesterol and phospholipid efflux to apolipoprotein A-I.

Cholesteryl esters accumulate in macrophages of the tonsils, lymph nodes, spleen, liver and peripheral nerves, while plasma HDL-C and apoA-I are markedly reduced or absent.

Hallmarks include orange-tinted enlarged tonsils, hepatosplenomegaly, sensory or relapsing neuropathy and accelerated atherosclerosis. Diagnosis is confirmed by ABCA1 sequencing.

Symptoms

Yellow-orange enlarged tonsils

Splenomegaly and hepatomegaly

Peripheral neuropathy (sensory or motor)

Premature atherosclerotic disease

Corneal opacities

Mild thrombocytopenia

Fatigue and muscle weakness

Risk Factors

Two pathogenic ABCA1 variants (autosomal recessive)

Consanguineous parents

Family history of low HDL or premature CAD

Affected sibling

Founder populations with known ABCA1 mutations

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

Persistently very low HDL-C (<10 mg/dL) with normal LDL
Enlarged orange-tinted tonsils on examination
Unexplained relapsing peripheral neuropathy
Premature coronary artery disease
Family history of Tangier disease

Treatment Methods

Aggressive cardiovascular risk factor management (statin, antihypertensives)

Smoking cessation and lipid-lowering lifestyle measures

Tonsillectomy when symptomatic

Symptomatic management of neuropathy

Regular cardiovascular surveillance

Genetic counseling and family screening

Which Department to Visit?

You can visit our Endokrinoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Let us help you

You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.