Tangier Disease

What is Tangier disease?

Tangier disease is a rare condition you can get from your parents. People with Tangier disease have very low levels of HDL (high-density lipoprotein). This type of cholesterol is known as “good cholesterol” because it helps get rid of the bad kind of cholesterol (LDL or low-density lipoprotein) that clogs your arteries.

Tangier disease can affect multiple organs in your body and can give you a higher risk of heart disease, which can lead to a heart attack or stroke.

Why is it called Tangier disease?

The name for this disease comes from Tangier Island, which is off the coast of the commonwealth of Virginia in the United States. This is where people discovered the first cases of Tangier disease. However, people in other parts of America and the world have it too.

How common is Tangier disease?

Tangier disease is extremely rare. Healthcare providers have diagnosed about 100 cases of it throughout the world.

How does Tangier disease affect my body?

In people with Tangier disease, fat (lipids) can build up because there’s not enough HDL to carry it to your liver, which gets rid of it. This collection of fat enlarges certain body parts, such as:

• Liver.
• Spleen.
• Tonsils (these can look yellow or orange).
• Lymph nodes (part of your immune system).
• Heart.
• Brain.

You may also have:

• Nerve issues.
• High triglycerides.
• An unusual cloudiness in your eyes that can make it hard to see if it’s bad enough.

What are the symptoms of Tangier disease?

Tangier disease symptoms are different from person to person, depending on where the fatty deposits settle. Symptoms can include:

• Pain in your stomach or feeling sick to your stomach.
• Plaque collecting in your arteries (atherosclerosis).
• Dry skin.
• Ectropion (your eyelid flips inside out).
• Anemia.
• Muscle weakness in your arms, legs hands or feet.
• Long-term lymph node swelling that doesn’t come from an infection.

Symptoms can appear at any time from shortly after birth to age 65.

What causes Tangier disease?

You inherit Tangier disease through the _ABCA1 _gene you get from your parents. When this gene is abnormal, a problem with its instructions makes your body unable to move cholesterol out of your cells and into HDL. HDL takes bad cholesterol to your liver, which gets rid of it.

If you get an abnormal ABCA1 gene from each of your parents, you’ll have Tangier disease. If you get an abnormal gene from only one parent, you become a carrier for Tangier. You may not show signs of Tangier, but still can have low HDL.

If two parents who are carriers for the abnormal gene have a child, that child — regardless of sex — may:

• Have Tangier disease (25% chance).
• Be a carrier (50% chance).
• Not inherit an abnormal gene from either parent (25% chance).

How is Tangier disease diagnosed?

Your healthcare provider can make a Tangier disease diagnosis after doing a physical exam and doing blood tests for HDL and one of its proteins. Genetic testing can confirm the diagnosis. If you can’t get a genetic test, your provider can take a tissue sample (biopsy) from several parts of your body.

Which protein is deficient in Tangier disease?

You have a very small amount of apolipoprotein A1 (ApoA1) when you have Tangier disease. This protein is part of HDL, which is also low in people with this disease.

Which tests are used for Tangier disease?

Tests to help with a Tangier disease diagnosis or to monitor the disease’s effects may include:

• Nerve and muscle studies (electromyograms).
• Eye exam.
• Ultrasound on your belly (abdomen).
• Ultrasound on your carotid arteries.
• CT angiogram of your heart.
• Echocardiogram.
• Exercise stress test.

How is Tangier disease treated?

Healthcare providers don’t have a specific Tangier disease treatment they use for every person with the disease. Some people with Tangier disease may need to have an operation to remove an affected area, such as their tonsils or spleen.

What should I eat to help with Tangier disease?

Some foods can help raise your HDL (good cholesterol) and lower your LDL (bad cholesterol). These include:

• Avocados.
• Olive oil.
• Beans.
• Whole grains.
• Fatty fish.
• Nuts.
• Fruits that have a lot of fiber.
• Chia seeds and flax seeds.

What medications/treatments are used to help with Tangier disease?

Your healthcare provider may prescribe cholesterol-lowering drugs.

They may also recommend lifestyle changes to improve your HDL level, such as:

• Exercising often.
• Not using tobacco products.
• Staying at a healthy weight.
• Eating monounsaturated fat instead of the saturated type.

What are the side effects of treatment?

Side effects of medicines that lower your cholesterol may include:

• Headaches.
• Muscle soreness.
• Constipation.
• Upset stomach.

What can I expect if I have Tangier disease?

The Tangier disease prognosis is usually good. However, it depends on how your symptoms progress. As it is with many diseases, it’s best if you get an early diagnosis before symptoms get worse.

There’s no cure for Tangier disease, but gene therapy may help in the future.

How long does Tangier disease last?

Since Tangier disease is in your genes, you’ll have it for the rest of your life. Early diagnosis and continued checkups can help you manage this disease.

How can I prevent Tangier disease?

You can’t prevent Tangier disease if your healthcare provider has confirmed that it’s in your genes. However, a genetic counselor can help you figure out the chances of passing it on to your child or children, based on your status and the other parent’s genetics.

How do I take care of myself?

If you have an enlarged spleen from Tangier disease, you shouldn’t play contact sports that could put you at risk of your spleen rupturing. Also, you can manage your other risk factors for heart disease, such as:

• Controlling high blood pressure.
• Keeping diabetes under control.
• Not using tobacco products.

When should I see my healthcare provider?

You should see your healthcare provider regularly so they can respond quickly if your symptoms get worse.

Your provider should do regular checkups of your:

• Nervous system.
• Heart.
• Eyes.

What questions should I ask my healthcare provider?

You may want to ask your healthcare provider the following questions:

• Do I need to take medicine to improve my cholesterol numbers?
• Is there a Tangier disease support group I can join?
• How often do I need appointments with you?