Let's learn about Tangier Disease, which occurs in people with low levels of good cholesterol (HDL) in the body.

Have you ever heard of a type of cholesterol called good cholesterol (HDL / high-density lipoprotein) ? Yes, yes... Today we are going to talk about a very rare disease that occurs when the level of this good cholesterol in our body is very low. This is called Tangier Disease . You may not be familiar with this name, but it is very important to know about it.

What is Tangier Disease? Let's understand it simply!

Okay, let's start from the beginning. Tangier Disease is a very rare disease that we inherit from our parents, that is, genetically inherited . People with this disease have very low levels of good cholesterol (HDL) in their bodies. Did you know, this HDL cholesterol is not called "good cholesterol" for nothing. It is they who help keep our bodies clean by removing bad cholesterol (LDL / low-density lipoprotein) that tends to build up in our blood vessels, that is, in our arteries .

Now think about what happens when this good cholesterol (HDL) decreases. That bad cholesterol (LDL) and other types of fats (lipids) easily start to get deposited inside our arteries. Just like dirt gets stuck in a water pipe. This can cause problems for our heart , heart attack , or even lead to conditions like stroke . Not only that, this disease can affect many other organs in our body.

Why was it called "Tangier"?

This is also a very interesting story. This disease is named "Tangier" because of the Tangier Island , which is located across the sea from the US state of Virginia. This disease was first discovered among the people who lived on that island. However, that does not mean that this is something limited to that island. There are people with this disease in other countries of the world as well.

How common is Tangier Disease?

Actually, Tangier Disease is an extremely rare condition. Only a small number of people, about 100, have been identified worldwide. That's why it's not talked about much. But even though it's rare, it's important to be aware of this condition, right?

How does Tangier Disease affect our body?

Here's what happens. When we have diabetes, our body's good cholesterol (HDL) levels are low, so fats (lipids) cannot be transported to our liver properly. The liver is the one that removes this unwanted fat from the body. So, this fat that cannot be removed gradually starts to accumulate in various parts of our body. When this fat accumulates, that organ can also become a little larger.

Fat is often deposited in this way:

• Liver: The liver may become enlarged.
• Spleen:The spleen can also swell and become enlarged.
• Tonsils: The tonsils in our throats. They can become yellowish-orange in color when they become filled with fat.
• Lymph nodes: These are part of our immune system. They can also become swollen.
• Heart: This can also affect the functioning of the heart.
• Brain: Sometimes the brain can also be affected.

In addition to this, some other problems may arise:

• Nerve issues: Nerve problems, such as numbness in the limbs, may occur.
• Elevated triglyceride levels: This is a type of fat found in the blood, just like cholesterol.
• Vision problems: There may be unusual cloudiness in the eyes, and sometimes vision may be reduced.

What are the symptoms of Tangier Disease?

This is very important. The symptoms of Tangier Disease can vary from person to person. It depends on where the fat is deposited in the body, as I mentioned earlier. Some people may show symptoms at birth, while others may not show any major symptoms until they are 60-65 years old.

Here are some common symptoms:

• Stomach pain or nausea.
• Fatty deposits in the arteries (atherosclerosis): This increases the risk of heart disease.
• Dry skin.
• Inward rolling of the eyelid (Ectropion): This is a somewhat unusual symptom.
• Anemia: This means lack of blood.
• Muscle weakness in the arms, legs, hands, or feet.
• Swollen lymph nodes for a long time without any infection.

Remember, sometimes these symptoms can be mistaken for other illnesses, which is why it's important to get an accurate diagnosis.

What causes Tangier Disease? Let's talk about genes!

Tangier Disease is caused by a defect in a gene called the ABCA1 gene that we inherit from our parents. Simply put, the ABCA1 gene contains the instructions to remove cholesterol from our cells and add it to the good cholesterol (HDL). HDL carries this cholesterol to the liver, where it is excreted.

Now, if there is a defect or mutation in this ABCA1 gene, those instructions don't work properly. Then the removal of cholesterol from the cells and the formation of HDL don't happen properly. The result is that HDL levels drop significantly.

This is how it is inherited:

• If both parents inherit the defective ABCA1 gene, the child will develop Tangier Disease.
• If only one parent inherits the defective gene, the child will be a carrier. They may not show symptoms, but their HDL levels may be lower than normal.

Now imagine that both parents are carriers of this defective gene, meaning they may not have symptoms, but they both have the gene. When such parents have a child:

• There is a 25% (1/4) chance that the child will develop Tangier Disease.
• There is a 50% (1/2) chance that the child will be a carrier of the disease.
• There is a 25% (1/4) chance that the child will not inherit any defective genes and will be healthy.

This is like flipping a coin and getting either heads or tails. The probabilities are the same for every pregnancy.

How do doctors diagnose Tangier Disease?

To find out for sure whether you have Tangier Disease, you need to see a doctor. He or she will first do a physical exam and ask about your symptoms. Then, they will order several blood tests . These blood tests mainly look at your HDL cholesterol level and how low your levels of a protein called apolipoprotein A1 (ApoA1) . Both of these are very low in people with Tangier Disease.

Genetic testing can also be done to confirm the diagnosis. It can check for a specific mutation in the ABCA1 gene. However, genetic testing may not be available everywhere. In such cases, your doctor may take a small piece of tissue (biopsy) from a part of your body, such as your tonsils, skin, or liver. The type of fat in these tissues can be used to get an idea of ​​the disease.

What protein is deficient in Tangier Disease?

In Tangier disease, a protein called apolipoprotein A1 (ApoA1) is greatly reduced. This ApoA1 is a major component of the HDL cholesterol molecule. So when ApoA1 decreases, HDL levels also decrease.

What tests are used for diagnosis and follow-up?

Doctors may also perform several other tests to diagnose the disease and monitor the effects of the disease on the body.

• Nerve and muscle function tests (Electromyograms / EMGs): Check for nerve damage and muscle weakness.
• Eye exam: Check for any blurred vision or vision problems.
• Ultrasound on your belly / abdomen: Check the condition of organs like the liver and spleen.
• Ultrasound on your carotid arteries: Check for fatty deposits in the main arteries in your neck.
• CT angiogram of your heart:Check for blockages in the arteries that supply blood to the heart.
• Echocardiogram: A scan to look at the function and structure of the heart.
• Exercise stress test: See how the heart responds to exercise.

How is Tangier Disease treated?

To be honest, there is no specific treatment that can completely cure Tangier Disease. Because it is a genetic condition, there are many things you can do to control the symptoms and reduce complications.

Sometimes, an organ that is damaged by fat deposits, for example the tonsils or spleen, may need to be surgically removed.

Can food and drink help?

Yes, it really is possible. There are some foods that can help slightly increase our good cholesterol (HDL) levels, and also help reduce our bad cholesterol (LDL) levels.

• Avocados
• Olive oil
• Legumes like beans and chickpeas (Beans)
• Whole grains (e.g., wholemeal, wholemeal rice)
• Fatty fish ( e.g. salmon, mackerel, herring)
• Nuts ( e.g. peanuts, almonds, cashews - but without salt)
• Fruits that have a lot of fiber (e.g. guava, mango, banana)
• Chia seeds and flax seeds

Trying to include these foods in your diet regularly will help maintain good cholesterol levels.

What are the medication and lifestyle changes?

Your doctor may prescribe cholesterol-lowering drugs , such as statins.

It also recommends making several lifestyle changes that can help increase HDL levels:

• Exercising often: This includes walking or running for at least 30 minutes a day.
• Not using tobacco products: You should stop smoking cigarettes completely.
• Staying at a healthy weight.
• Eat monounsaturated fats instead of saturated fats: Saturated fats are found in things like coconut oil, palm oil, and animal oils. Monounsaturated fats are found in olive oil and avocados.

What are the side effects of the treatment?

Cholesterol-lowering medications can sometimes cause minor side effects. Not everyone gets them, but it's good to be aware of them.

• Headaches
• Muscle soreness
• Constipation
• Upset stomach

If something like this happens, you should tell your doctor. Then he or she can change the medication or give you other advice.

Can Tangier Disease be prevented?

Since this is a genetic condition, we cannot prevent it from developing. This means that if you have this defect in your genes, it cannot be changed. However, if you have this disease, or if you are a carrier, you can consult a genetic counselor to find out the risk of your children inheriting it. Then, taking into account the genetic status of the other parent, you can get a clear idea of ​​​​the chances of your children getting it.

If I have Tangier Disease, what will happen in the future?

The prognosis for people with Tangier Disease is generally good, but it depends on how advanced your symptoms are. As with any disease, early diagnosis is best, before symptoms become severe.

Although there is no definitive cure for this yet, there is hope that things like gene therapy will help in the future. Research is still ongoing.

How long does Tangier Disease last?

Since this is a genetic disease, it is lifelong. However, if detected early and regularly checked, this disease can be managed well and lived with.

How do I take care of myself?

If you have an enlarged spleen due to Tangier Disease, you should definitely avoid contact sports, as such contact can cause the spleen to rupture, which is dangerous.

In addition, other risk factors for heart disease should also be controlled:

• Controlling high blood pressure .
• If you have diabetes , control it well.
• Avoiding the use of tobacco products.

When should I see a doctor?

If you have Tangier Disease, you should see your healthcare provider regularly . That way, if your symptoms get worse, you can take action quickly.

The doctor will often check for these things:

• Nervous system.
• Heart.
• Eyes.

What questions should I ask my doctor?

When you see your doctor, you can ask questions like these:

• Do I need to take medication to improve my cholesterol levels?
• Is there a support group that people with Tangier Disease can join?
• How often should I come see you?

Since Tangier Disease can affect different parts of the body, it is best to have regular checkups for each part. You may need to see several different specialists. Take the medication exactly as prescribed by your doctor, and do your best to maintain a healthy diet and exercise routine.

The most important things we need to remember (Take-Home Message)

Okay, let me summarize some of the things you need to remember from what we've talked about.

• Tangier Disease is a rare, genetic disease that causes a significant decrease in good cholesterol (HDL).
• This can cause bad cholesterol (LDL) and fat to accumulate in the body and affect organs like the liver, spleen, tonsils, and heart.
• Symptoms vary, and some people may experience neurological problems, skin problems, and vision problems.
• This is caused by a defect in the gene ABCA1 .
• The disease is diagnosed through blood tests, genetic tests, and sometimes tissue tests (biopsies) .
• Although there is no specific cure, symptoms can be controlled with diet, lifestyle changes, medication, and some surgeries.
• Early detection and frequent medical attention are very important.

So, I hope this information is helpful to you. If you have any further questions about this, don't hesitate to talk to a doctor. Stay healthy!

` Tangier disease, HDL cholesterol, LDL cholesterol, genetic diseases, cholesterol management, heart disease risk, ApoA1