Do you often get nosebleeds? Or have you noticed small red spots on some parts of your body, for example, on your face, lips, or fingertips? Sometimes we don't think of these as normal things, but behind them there may be a medical condition that needs some attention. That's what HHT is, but not many people know about it. Today we are talking about this HHT, or in medical terms, `(Hereditary Hemorrhagic Telangiectasia)`, a hereditary disease. Some also call it `(Osler-Weber-Rendu syndrome)`.
What exactly is HHT?
Simply put, HHT is a genetic disease that affects the blood vessels in our bodies. You know, we have these little tubes that carry blood throughout our bodies, which we call blood vessels. In this condition, what happens is that these blood vessels, especially the very fine ones called capillaries, don't develop properly. We call these abnormally formed capillaries ``telangiectasias''.
Think about it, we have large arteries that carry blood from our heart to the rest of our body, and veins that carry that blood back to the heart. The connection between these two is made by what are called capillaries. In HHT, sometimes these arteries and veins can have abnormal connections directly, without going through the capillaries. We call these arteriovenous malformations, or AVMs for short.
These abnormal blood vessels are very weak and fragile. They can easily burst or rupture, causing bleeding (hemorrhaging). Symptoms and complications depend on where the bleeding occurs.
Who can develop HHT?
This condition called HHT can affect women, men, and even young children . Race, religion, and color are not relevant to this. Mainly because it is passed down from generation to generation through genes, if someone in the family has it, others have a chance of developing it too.
This is considered a relatively rare condition . However, it is often underdiagnosed. This means that, although it is estimated that about one in 5,000 people worldwide suffer from this disease, most of them do not know that they have it.
What causes HHT?
As I mentioned earlier, HHT is a completely genetic condition . This means that it is inherited from parents to children. It is considered a ``dominant disorder``. Simply put, a child can develop the disease even if only one parent, the mother or the father, inherits the abnormal gene .
Scientists have identified hundreds of different mutations in six genes that are linked to HHT. However, currently, the most common mutations are in two genes called ENG and ACVRL1. Scientists are still researching this.
What are the symptoms of HHT?
The symptoms of HHT can vary greatly from person to person. It depends on where in the body the abnormal blood vessels I mentioned are located. Some people may not have any major symptoms. But others may have very severe, serious symptoms.
However, the most common symptom among people with HHT is frequent nosebleeds (epistaxis) . Some people may have nosebleeds several times a day. This problem may have been present since childhood.
In addition, some people with HHT may notice small red spots (telangiectasias) on their bodies. These may appear slightly discolored to you. These are most commonly seen on:
- On the face
- In the fingers or fingertips
- In the hands
- Inside the mouth (on the mucous membrane)
- On the lips
- Around the nose
In addition to these, some people with HHT may also experience:
- Anemia : This means a lack of red blood cells in the body. This can happen due to frequent bleeding.
- Bleeding from the stomach or intestines : This may not be visible, but it may be accompanied by blood in the stool or the stool may be black.
Arteriovenous Malformations (AVMs) and their effects
People with HHT can sometimes develop aneurysms (AVMs) in large blood vessels. These AVMs can mainly develop in organs such as the lungs, brain, spinal cord, and liver. They can then cause different symptoms related to each organ.
- If you have AVMs in your lungs:
- Bluish discoloration of the skin (especially lips, fingernails)
- Coughing up blood (hemoptysis)
- Feeling tired quickly
- Difficulty breathing (dyspnea)
- If you have `(AVMs)` in the brain: These are the ones that are a little more dangerous. Because if one of these `(AVM)` bursts inside the brain, it is very serious.
- Dizziness
- Double vision
- Seizures
- Stroke-like conditions can occur.
- If you have liver AVMs:
- The heart can go into a state of ``Heart failure'' because when blood rushes through the ``(AVM)'' in the liver, the heart has to work harder to supply blood to the entire body.
- If you have spinal AVMs:
- Back pain
- Numbness or loss of sensation in the hands or feet may occur.
Important: If these ``(AVMs)`` rupture and bleed, it is a very serious emergency. Therefore, if you have any of the symptoms mentioned above, it is very important to seek medical advice immediately.
Can my children also develop HHT?
Yes, if you have HHT, each of your children has a 50% chance of inheriting the disease . This means that every time a child is born, there is a 50% chance that that child will develop HHT and a 50% chance that it will not. This is like flipping a coin and seeing if it comes up heads or tails.
How is HHT diagnosed?
Genetic testing can be done to confirm HHT. But most often, doctors diagnose it based on clinical information, such as symptoms and family history. When you see a doctor, they will often do the following:
- They will ask you detailed questions about your personal medical history (e.g. how long have you had nosebleeds, how often, and what other problems you have had).
- Ask about the medical history of your immediate family (parents, siblings, children) because this runs in families.
- Your body will be examined (to see if there are any red spots or such).
- If necessary, refer for tests (e.g. `(scan)` types, `(Endoscopy)`) to check the condition of internal organs .
A doctor may suspect or determine that you have HHT if you have at least three of the following symptoms:
- Frequent nosebleeds.
- The presence of several telangiectasias in areas where they are commonly seen on the skin (such as the face, lips, fingers).
- The presence of ``telangiectasias'' or ``AVMs'' in internal organs (e.g. lungs, brain, stomach, intestines) (these are only found through tests).
- Having a close family member with HHT.
What are the treatments for HHT?
Unfortunately, there is no cure for HHT. However, there are treatments that can help control symptoms, reduce symptoms, and reduce the risk of serious complications. Scientists are still working to find treatments for HHT, especially with the development of anti-angiogenic medical therapies.
While your doctor will treat existing symptoms, he or she will also check for any HHT-related problems that may not yet have symptoms.
Treatment may include the following:
- Laser treatment (`(Ablation)`): A minor surgery that uses laser beams to stop bleeding areas (telangiectasias) that are prone to bleeding.
- Embolization: A minor surgical procedure that blocks a blood vessel leading to a bleeding site or an AVM that is at risk of bleeding.
- Treatment for anemia: Giving iron tablets, and giving blood (blood transfusion) if necessary.
- To control nosebleeds: Use products like ointments and saline spray to keep the inside of the nose moist.
- To remove AVMs: Some AVMs can be removed with radiation therapy or surgery.
- Anti-angiogenic medical therapies: These may be given as infusions or as pills.
You may also see specialists for treatment of specific body systems, such as the liver, lungs, gastrointestinal system, and brain.
Can HHT be prevented?
Because it is a genetic disease, there is no way to prevent HHT or reduce your risk of developing it. However, if your parents, siblings, or children have HHT, it is important to tell your doctor. This can help you identify if you have the condition early, start treatment early, and prevent complications.
What is the outlook for people with HHT?
People with HHT can live a near-normal lifespan. However, AVMs and persistent bleeding in the lungs and brain are serious and require treatment. With proper management, most people can live a normal life.
What to do about nosebleeds due to HHT?
Nosebleeds are very common in HHT, so there are a few things you can do to help prevent them:
- Avoid using certain medications, especially painkillers like aspirin and NSAIDs (e.g. ibuprofen, diclofenac). These can reduce blood clotting and increase bleeding. Ask your doctor before taking any medication.
- Keep a diary. Write down what foods you eat and what activities you engage in that cause your nosebleeds. Then you can avoid those things.
- Keep the inside of your nose moist and lubricated. This can be done by using a humidifier, applying ointments recommended by your doctor, or using a saline nasal spray. A dry nose is more likely to bleed.
What else can I ask my doctor about HHT?
If you are diagnosed with HHT, it is a good idea to ask your doctor questions like these:
- Should the rest of my family be tested for this?
- Can I play sports? What kinds of sports are good and what are not?
- Are there any specific activities I should avoid?
- Are there any alcohol, special foods, or other medications I should avoid?
- What can I do to prevent nosebleeds or stop them quickly?
- Is it safe for me to get pregnant? Are there any special things I need to be aware of?
- If I experience bleeding, when should I seek immediate medical attention?
Finally, what to remember
HHT is a genetic condition that often goes undiagnosed. Symptoms can range from frequent nosebleeds to serious complications that affect multiple body systems. If you suspect that you or someone in your family has HHT, please talk to a doctor. Early treatment can help prevent complications. Genetic testing can also help find out if other family members are affected by the condition. Being informed is the most important thing in a situation like this.
` HHT, Hereditary Hemorrhagic Telangiectasia, Osler-Weber-Rendu syndrome, nosebleeds, blood vessels, genetic diseases, AVM, telangiectasia
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