Do you often have nosebleeds? Do you get red spots on your skin? Could this be HHT (Hereditary Hemorrhagic Telangiectasia)?

Do you often get nosebleeds? Or do you have small red spots on your skin, especially on your face, lips, and fingertips? Maybe your mother, father, or someone else in your family has had these problems. We may not pay much attention to these things, saying, "Oh, that's just our generation." But, sometimes there may be a medical reason behind this that we should be aware of. Today we are talking about such a rare but very important condition to be aware of. That is HHT, or Hereditary Hemorrhagic Telangiectasia .

Simply put, what is HHT?

HHT is a genetic condition that is passed down from generation to generation. It mainly affects the way our blood vessels, or blood vessels, are formed. Think of the blood vessel system in our body as a network of roads. There are arteries, like big highways, and veins, like big roads. The tiny, tiny side roads that connect these two big roads are called capillaries.

What happens in someone with HHT is that these delicate connections called capillaries don't form properly. Instead, there are direct, irregular, weak connections between arteries and veins. In medicine, we call these misformed connections Arteriovenous Malformations (AVMs) .

These AVMs can develop in any organ in our body, for example in the nose, lungs, intestines, or even the brain. A very small AVM that develops on the surface of the skin is called Telangiectasia . These are the small red spots that appear on the inside of your skin, such as the lips. These weak blood vessels can burst very easily. When they burst and bleed, it can even cause serious conditions, depending on where it is located.

This disease affects about one in 5,000 people worldwide. But because many people are not diagnosed, it is believed that there may be more patients. It can occur in people of any age and of any race. It is also called Osler-Weber-Rendu syndrome .

What are the main symptoms of HHT disease?

The symptoms of HHT can vary from person to person. It depends on where in the body the abnormal blood vessels (AVMs) we talked about earlier are located. Some people may not have any noticeable symptoms. But others may experience very serious symptoms.

Let's categorize these symptoms in the table below.

Why does HHT occur?

This is completely genetic . That is, it is not an infectious disease. It is inherited from parents to children. HHT is a dominant disorder. That means, if either of your parents has the disease, you have a 50% chance of developing it too.

HHT is caused by mutations in two genes (the `ENG` gene and the `ACVRL1` gene), and scientists are still researching this.

If you have HHT, it is very important to talk to your doctor about the possibility that your children will inherit it.

How is HHT diagnosed?

A doctor may suspect this after hearing about your symptoms and family history. Although genetic testing can be done to confirm the diagnosis, the diagnosis is often made based on symptoms.

Your doctor will suspect you have HHT if you have at least three of the following:

• Repeated nosebleeds.
• The presence of multiple telangiectasias in areas of the skin where spots usually occur (face, lips, fingers).
• Having an AVM or Telangiectasia in an organ inside the body (such as the lungs, brain, liver).
• Having a close family member (mother, father, sibling) with HHT.

Tests to confirm the disease

Your doctor may recommend that you have some tests, such as:

• Ultrasound Scan: This helps to see if there are AVMs in the liver.
• MRI (Magnetic Resonance Imaging) Scan: Very useful, especially for checking for AVMs in the brain.
• CT (Computed Tomography) Scan: Can obtain clearer images of the body's internal organs.
• Bubble Test (Echocardiogram): This is a special test. It is used to find out if there are AVMs in the lungs.

What are the treatments for HHT?

The first thing to remember is that there is no cure for HHT. However, there are many effective treatments that can help control symptoms, reduce the risk of serious complications, and help you live a normal life.

While treating your current symptoms, your doctor will also check for any hidden AVMs that may not yet have symptoms.

Here are some treatment methods:

• For frequent nosebleeds: Use ointments and saline spray to keep the nose moist.
• For Anemia: Give iron replacement pills or, if necessary, a blood transfusion.
• To stop bleeding: Laser treatment (`Ablation`) destroys the tiny blood vessels that are bleeding.
• Embolization: This involves blocking the blood vessel leading to an AVM that is at risk of bleeding or bursting with a special substance.
• Surgery or radiation therapy: These are used to remove or shrink some AVMs.
• Stopping certain medications: Medications such as aspirin that reduce blood clotting may need to be stopped on medical advice.

Things to consider when living with HHT

A person with HHT may need lifelong medical monitoring and treatment, but with proper treatment, HHT patients have a normal life expectancy.

What can be done to prevent nosebleeds?

• Talk to your doctor and avoid medications that increase bleeding (e.g. aspirin, NSAIDs).
• Keep your nose moist at all times. Using a humidifier at home, using saline nasal sprays, and applying ointments prescribed by your doctor are very important.
• Keep a diary to see if certain foods or activities increase your risk of nosebleeds.

If you have been diagnosed with HHT, it is very important to advise the rest of your family to get tested as well, because the sooner the disease is diagnosed, the more serious complications can be prevented.

Hereditary Hemorrhagic Telangiectasia, HHT, Nosebleeds, Red Spots on the Skin, Genetic Diseases, AVM, Osler-Weber-Rendu Syndrome, Telangiectasia