There are over 60,000 people with Hereditary Hemorrhagic Telangiectasia (HHT) in the United States. This rare genetic disorder can manifest differently from one patient to the next and the symptoms can vary even within the same family.
It's one of the reasons why HHT is so commonly misdiagnosed, with many patients not receiving a diagnosis until they are in their 40s or 50s.
So, how do you know if you have HHT? What are the signs and symptoms that you should look out for, and are there any tests to make a concrete diagnosis?
How to Tell If you Have Hereditary Hemorrhagic Telangiectasia (HHT)
There are a few things that could indicate you have HHT:
Your Family History
HHT is a genetic disorder passed from parents to their children. If one of your parents had the condition, there is a 50% chance you will get it as well.
Of course, there's a chance they had the condition but didn't display any notable symptoms and were never diagnosed, so a lack of family history doesn't mean you're in the clear. It's also possible for HHT to appear as a result of a new mutation, which means you can have the condition even though none of your relatives do.
Recurring nosebleeds are the most common HHT symptom. However, HHT is not the most common cause of nosebleeds and they appear more frequently as a result of nose-picking, dry living conditions, trauma, high blood pressure, and a variety of other causes.
If you have frequent nosebleeds, you should consult with a healthcare professional, but it's not necessarily a sign that you have HHT.
Other symptoms to look out for include:
- Red spots on the skin (including the lips and the inside of the nose)
- Shortness of breath
- Back pain
- Gastrointestinal bleeding
- Chronic headaches
- Low exercise tolerance
Screening and Genetic Testing
There are five different genes that can cause HHT and three of these are known. If the condition is suspected, a genetic test can detect the problematic genes and make a diagnosis.
Genetic testing is important not just for you, but also for your family. If diagnosed, you have a high chance of passing the condition to a child, and while there is no cure and no way to avoid it, knowing about the condition will help to prevent complications and deal with the symptoms.
If a physician suspects that you have HHT, they may send you for tests to look for abnormal blood vessels called arteriovenous malformations (AVMs).
AVMs can appear in the brain, liver, lungs, GI tract, and spine. They are common in most HHT patients.
Arteriovenous malformations are responsible for many of the serious side effects and complications associated with this disease. For instance, brain AVMs can cause headaches, dizziness, vision disturbances, seizures, and even strokes. Lung AVMs can cause bleeding in the lungs, as well as brain abscesses and strokes.
Summary: How To Tell If You Have HHT
You can't cure HHT, but you can treat it, and the sooner you get a diagnosis, the better your prognosis will be.
If you suspect that you may have HHT, whether because you have recurrent nosebleeds and other symptoms or a family history of the disease, contact your healthcare provider and arrange for a thorough screening.