Hereditary Hemorrhagic Telangiectasia: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Hereditary Hemorrhagic Telangiectasia?
A hematologist, a doctor who treats blood problems, and a geneticist, a doctor who treats inherited conditions, often guide care. An ear, nose, and throat doctor can treat nosebleeds. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is hereditary hemorrhagic telangiectasia?
Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of the blood vessels that can cause excessive bleeding. It is also called Osler-Weber-Rendu syndrome.
In HHT, some arteries flow straight into veins instead of into capillaries, the smallest blood vessels. These links are called arteriovenous malformations, or AVMs. Near the skin, they show up as red markings called telangiectases.
HHT is believed to affect between 1 in 5,000 and 1 in 10,000 people.
Symptoms
People with HHT can develop abnormal blood vessels in several areas of the body. Signs can include:
- Frequent nosebleeds, which can start in childhood.
- Red spots on the lips, tongue, ears, and fingers.
- Bleeding in the stomach or bowel, which can cause dark or black stools.
- Low iron, called anemia, which can cause tiredness and shortness of breath.
- An enlarged liver.
- Heart failure.
- Seizures or small strokes caused by bleeding in the brain. These need emergency care (see When to see a doctor).
Nosebleeds are very common in people with HHT. Bleeding in the digestive tract can be slow, and blood loss often goes unnoticed until anemia develops. Symptoms vary a lot from person to person.
Causes and who gets it
Changes in several genes, including ACVRL1, ENG, and SMAD4, cause HHT. These genes help blood vessels form properly.
HHT is passed down in an autosomal dominant pattern, so the changed gene is needed from only one parent. If a parent has HHT, there is a 50% chance of passing the gene to a child. Sometimes the gene change is new in the person and was not inherited.
There are several forms of HHT, mostly set apart by their genetic cause.
How doctors diagnose it
A health care provider will do a physical exam and ask about symptoms. An experienced provider can detect telangiectases during a physical exam.
Tests can include an MRI to find AVMs in the brain, and a CT or ultrasound scan to find AVMs in the liver. An echocardiogram looks at the heart, and an endoscopy uses a tiny camera on a thin tube to look inside the body. Genetic testing is available to look for changes in genes linked to HHT.
Treatment
All people with nosebleeds should use nasal lubrication, such as Vaseline or saline spray. Hard blowing, bumping, or picking the nose should be avoided.
Electrocautery (heating tissue with electricity) or laser surgery can treat frequent or heavy nosebleeds. Endovascular embolization, which means injecting a substance through a thin tube, can treat abnormal vessels in the brain and other parts of the body. Surgery may be used to treat bleeding in some areas.
Iron may be given if there is a lot of blood loss that leads to anemia. People with HHT should avoid blood-thinning medicines. If you already take one, do not stop it on your own. Ask the doctor who prescribed it. Some people may need antibiotics before dental work or surgery. People with lung AVMs should avoid scuba diving to prevent decompression sickness, also called the bends. Ask your provider what other precautions you should take.
People with this syndrome can live a completely normal lifespan, depending on where in the body the AVMs are located. Possible complications include heart failure, high blood pressure in the lungs, internal bleeding, shortness of breath, and stroke.
When to see a doctor
Contact your provider if you or your child has frequent nosebleeds or other signs of this disease. Black or dark stools and shortness of breath also deserve a call to your provider.
Call 911 or go to the emergency room if bleeding will not stop, if you cough up or vomit blood, if you have severe trouble breathing, or if you faint. Also get emergency help for a seizure, or for stroke signs such as sudden weakness, trouble speaking, or a sudden change in vision.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Such a doctor can do an evaluation, help arrange care with a blood doctor or an ear, nose, and throat doctor, and keep track of follow-up scans and visits.
Common questions
Is hereditary hemorrhagic telangiectasia the same as Osler-Weber-Rendu syndrome?
Yes, Osler-Weber-Rendu syndrome is another name for HHT.
Can people with HHT live a normal lifespan?
Yes, many can, depending on where in the body the AVMs are located. Complications such as stroke and internal bleeding can occur.
Can a parent pass HHT to a child?
Yes, a parent with HHT has a 50% chance of passing the gene to a child. Genetic counseling is recommended for couples who want to have children and who have a family history of HHT.
Should people with HHT take blood-thinning medicines?
No, MedlinePlus advises people with HHT to avoid blood-thinning medicines. If you already take one, do not stop it on your own. Ask the doctor who prescribed it.
Is scuba diving safe for people with HHT?
No, not for people with lung AVMs. Diving can cause decompression sickness, also called the bends.
Sources
- MedlinePlus - Hereditary hemorrhagic telangiectasia
- MedlinePlus Genetics - Hereditary hemorrhagic telangiectasia
- NORD - Hereditary Hemorrhagic Telangiectasia
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
