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Tangier disease
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Tangier Disease

Tangier disease is a rare inherited disorder characterized by severely reduced levels of high-density lipoprotein (HDL) in the blood, leading to cholesterol accumulation in tissues and a moderately increased risk of cardiovascular disease.

Description

Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. HDL is often referred to as "good cholesterol" because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease.

Additional signs and symptoms of Tangier disease include a slightly elevated amount of fat in the blood (mild hypertriglyceridemia); disturbances in nerve function (neuropathy); and enlarged, orange-colored tonsils. Affected individuals often develop atherosclerosis, which is an accumulation of fatty deposits and scar-like tissue in the lining of the arteries. Other features of this condition may include an enlarged spleen (splenomegaly), an enlarged liver (hepatomegaly), clouding of the outermost layer of the eye (corneal clouding), and type 2 diabetes.

Frequency

Tangier disease is a rare disorder, with approximately 100 cases identified worldwide. More cases are likely undiagnosed. This condition is named after an island off the coast of Virginia where the first affected individuals were identified.

Causes

Variants (also called mutations) in the ABCA1 gene cause Tangier disease. This gene provides instructions for making a protein that releases cholesterol and phospholipids from cells. These substances are used to make HDL. HDL then transports cholesterol and phospholipids to the liver.

Variants in the ABCA1 gene prevent the release of cholesterol and phospholipids from cells. As a result, these substances accumulate within cells, causing certain body tissues to enlarge and the tonsils to acquire a yellowish-orange color. A buildup of cholesterol can be toxic to cells, leading to impaired cell function or cell death. In addition, the inability to transport cholesterol and phospholipids out of cells results in very low HDL levels, which increases a person's risk of cardiovascular disease. All these factors cause the signs and symptoms of Tangier disease.

Associated Genes

  • ABCA1

Inheritance

Tangier disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition; however, they may have a related condition called familial HDL deficiency.

Other Names for This Condition

  • A-alphalipoprotein neuropathy
  • Alpha high density lipoprotein deficiency disease
  • Analphalipoproteinemia
  • Cholesterol thesaurismosis
  • Familial high density lipoprotein deficiency disease
  • Familial hypoalphalipoproteinemia
  • HDL lipoprotein deficiency disease
  • Lipoprotein deficiency disease, HDL, familial
  • Tangier disease neuropathy
  • Tangier hereditary neuropathy

Frequently Asked Questions

Urgent evaluation is needed for any new or worsening chest pain, shortness of breath, sudden weakness or numbness, vision changes, or signs of a transient ischemic attack/stroke. These symptoms could indicate acute atherosclerotic events, which require immediate medical attention.
Diagnosis starts with a lipid panel that shows extremely low or absent HDL cholesterol and often mild hypertriglyceridemia. If these findings are present, clinicians order genetic testing for pathogenic variants in the ABCA1 gene. A skin or tonsil biopsy can demonstrate cholesterol-laden macrophages (foam cells), but genetic confirmation is the definitive test.
Because raising HDL pharmacologically has limited benefit, the focus is on controlling other risk factors: maintain a heart‑healthy diet low in saturated fat and refined carbohydrates, achieve a healthy weight, and engage in regular aerobic exercise. Statins or ezetimibe are used to lower LDL cholesterol if it is elevated. Fibrates or omega‑3 fatty acids may help modestly reduce triglycerides. Smoking cessation and blood pressure control are also essential.
Tangier disease is inherited in an autosomal recessive pattern. Both parents must carry one defective ABCA1 allele for a child to be affected. Siblings have a 25 % chance of being affected, a 50 % chance of being carriers, and a 25 % chance of having two normal alleles. Carrier testing and genetic counseling are recommended for at‑risk relatives, especially if planning pregnancy.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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