Definition

What is Tangier disease?

Tangier disease is a disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL-cholesterol is often referred to as the “good cholesterol” as it can facilitate the removal of cholesterol out of the walls of arteries, particularly the coronary (heart) arteries. Therefore, people with Tangier disease have a moderately increased risk of cardiovascular disease.

This disorder was originally named after the location in which it was first discovered – Tangier Island in the Chesapeake Bay.

How common is Tangier disease?

Tangier disease is a rare disorder with only approximately 100 cases diagnosed worldwide. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Tangier disease?

The common symptoms of Tangier disease are:

  • A slightly elevated amount of fat in the blood
  • Disturbances in nerve function
  • Enlarged, orange-colored tonsils
  • Atherosclerosis, which is an accumulation of fatty deposits and scar-like tissue in the lining of the arteries
  • Enlarged spleen
  • Enlarged liver
  • Clouding of the clear covering of the eye
  • Type 2 diabetes

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Tangier disease?

Tangier disease is caused by mutations in the ABCA1 gene. This gene provides instructions for making a protein that releases cholesterol and phospholipids from cells. These substances are used to make HDL, which transports them to the liver. Mutations 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 the risk of cardiovascular disease. These combined factors cause the signs and symptoms of Tangier disease.

Risk factors

What increases my risk for Tangier disease?

Tangier disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Tangier disease diagnosed?

Diagnosis of Tangier disease is achieved through clinical evaluation and can be confirmed through genetic testing involving the sequencing of the ABCA1 gene. HDL-C deficiency and an extremely low apolipoprotein A1 (ApoA1) level are typical diagnostic criteria.

How is Tangier disease treated?

There are no known specific treatments for Tangier disease. Treatment of Tangier disease is supportive and based on specific disease manifestations in a given individual.

Surgical removal of the spleen, tonsils, or other enlarged tissues may become necessary in some patients.

Heart disease risk factors such as smoking, high blood pressure, diabetes, obesity, high level of triglycerides and homocysteine in the blood should receive prompt treatment. Fibrates can be used to help lower triglycerides.

It is suggested that management of Tangier disease should include regular assessment of cardiovascular risk and neurological and ophthalmological examination.

Genetic counseling is recommended for families of patients with Tangier disease.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Tangier disease?

The following lifestyles and home remedies might help you cope with Tangier disease:

To reduce the risk for heart and blood vessel disease, people with this condition should maintain a low fat (especially saturated fat) diet and overall healthy lifestyle.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 6, 2018 | Last Modified: February 6, 2018

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