People with HHT have a near-typical life expectancy as long as they follow their treatment plan and undergo regular screening for complications.
Hereditary hemorrhagic telangiectasia (HHT) is a rare disorder that causes changes in the structure of arteries and blood vessels. It’s genetic, which means it passes from parents to children in genes.
People with HHT have a higher risk of nosebleeds, internal bleeding, and strokes. When complications are frequent or severe, it can be hard to lead a typical life.
If you or your child has HHT, you might be wondering about your long-term outlook. This article explores what to expect with HHT, including factors that affect life expectancy.
According to the National Organization for Rare Disorders, people with HHT have a near-typical life expectancy if they receive appropriate treatment.
In a 2020 study, the average life expectancy for people with HHT who had regular screening and received necessary treatments was
The researchers also found slight variations in life expectancy according to HHT type. People with type 1 HHT, which is caused by a mutation in the ENG gene, had an average life expectancy of 76.4 years. People with type 2 HHT, which involves a mutation in the ACVRL1 gene, had a life expectancy of 77.9 years.
Life expectancy was lower for people with type 3 HHT (which involves a mutation in the SMAD 4 gene and is also known as juvenile polyposis-HHT syndrome) and for those with an unknown genetic mutation.
People with HHT are more likely to experience health complications than people in the larger population. These complications can range from mild to life threatening.
The authors of a
Other possible HHT complications, such as strokes, heart failure, and thrombosis, appear later in life and can lead to disability or death. Your treatment plan will include screening tests, medication, and other interventions to prevent these complications.
Several other factors can also influence your quality of life with HHT. According to a 2022 study, some of these factors are:
- your ability to talk about your condition with your family, friends, and co-workers
- your experiences interacting with medical professionals in healthcare settings
- anxiety or other mental health issues related to your HHT symptoms, progression, and transmission
HHT likely decreases your life expectancy by a few years. A
- whether you undergo regular screening
- whether you seek treatment when necessary
- whether you receive expert care
That’s because HHT can cause arteriovenous malformations (AVMs), often in your lungs or brain. Without regular monitoring and treatment, these can become life threatening. In the 2020 study, life expectancy was lower for participants who had visceral AVMs.
The chance of dying from HHT is often higher in the first
As mentioned earlier, the type of HHT (the specific gene mutation) may also influence your life expectancy. For example, in a small 2018 study with 22 participants, those who had the SMAD4 mutation lived to an average age of 66 years. That’s more than a decade less than people with more common types of HHT.
Some people with HHT may need to change their lifestyle to help manage symptoms or prevent complications.
It’s best to talk with your doctor about what to avoid. But in general, people with HHT should avoid:
- Certain medications and supplements: Taking nonsteroidal anti-inflammatory drugs, such as aspirin and ibuprofen, can increase your risk of bleeding if you have HHT. Experts also recommend avoiding fish oil, ginkgo biloba, and St. John’s wort supplements.
- Trigger foods: Some people with HHT find that spicy foods make their nosebleeds worse. Try keeping a food diary to see whether any particular foods are contributing to bleeding.
- Alcohol: Alcohol can thin your blood, increasing your risk of bleeding. While you don’t necessarily have to avoid alcohol altogether if you have HHT, you might want to reduce your consumption if you find that it causes nosebleeds.
- Cigarettes: Experts have linked smoking to a wide range of health issues. When you have HHT, smoking can put pressure on already-fragile blood vessels and increase your risk of bleeding.
How serious is HHT?
HHT is a serious condition, but it’s also highly treatable. You can reduce your risk of severe complications by undergoing regular screening tests and seeking treatment to help with symptoms.
How common are AVMs in HHT?
Arteriovenous malformations (AVMs) are a common feature of HHT. They’re
- Liver AVMs occur in
7.6% to 57.6% of people with HHT, depending on the type. - Lung AVMs may affect
25% to 59% of people with HHT type 1 or 2. - Brain AVMs occur in about
10.4% of people with HHT but are more common in people with type 1.
What is the average age of diagnosis of HHT?
HHT symptoms typically develop between late childhood and early adulthood. The average age of onset for nosebleeds is
HHT is a rare blood disorder that affects vein formation. It can cause frequent nosebleeds and contribute to more severe complications later in life.
If you’re living with HHT, prevention and treatment can significantly improve your outlook. If you undergo regular screening for AVMs, your life expectancy will likely be similar to that of someone who doesn’t have HHT.