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Hereditary hemorrhagic telangiectasia

Overview

Hereditary hemorrhagic telangiectasia (tuh-lan-jee-uk-TAY-zhuh) is a disorder that affects blood vessels. It can cause bleeding in the digestive tract, anemia, increased risk of stroke and other symptoms. In most cases, hereditary hemorrhagic telangiectasis (HHT) isn't life-threatening and symptoms can be effectively managed.

With HHT, also known as Osler-Weber-Rendu disease, some of the networks of blood vessels that join arteries to veins (capillaries) aren't correctly formed. In small blood vessels, these abnormalities are called telangiectases. When they occur in larger vessels, they're called arteriovenous malformations (AVMs). People who have HHT may have both kinds of malformations.

HHT is genetic and can affect people at any age. Its severity can vary greatly from person to person, even within the same family.

Diagnosis

Signs and symptoms of telangiectases and arteriovenous malformations (AVMs) include nosebleeds, red or purple spots, lacy red vessels, shortness of breath, migraine headaches, iron deficiency anemia, fatigue, and blood in the stool.

A clinical diagnosis of HHT can be made if you have at least three of these four criteria:

  • Recurrent nosebleeds that seem to start for no reason
  • Visible telangiectases on your lips, mouth, fingers, nose and the inside of your mouth
  • Internal telangiectases or AVMs in your lungs, brain, spine, digestive tract or liver
  • Family history of a parent, sibling or child with HHT

Your doctor may diagnose HHT based on a physical examination, results of imaging tests and a family history. But some symptoms may not yet be apparent in children or young adults. Your doctor may also suggest you undergo genetic testing for HHT, which may confirm a suspected diagnosis.

Your doctor can refer you to a certified genetic counselor or medical geneticist, who can talk with you about how genetic testing for HHT may be useful for you and your family. HHT is a disorder you inherit from one of your parents. It's called an autosomal dominant disorder, which means that if one of your parents has HHT, you have a 50-50 chance of inheriting the dominant gene responsible for HHT. If you inherit this gene, you will have HHT.

As part of determining a diagnosis, your doctor will likely have you under one or a combination of the following imaging tests:

  • Chest X-ray. A chest X-ray can help your doctor see the size, shape and structure of your lungs. It can also give clues about the location and severity of any arteriovenous malformations (AVMs).
  • Ultrasound imaging. This technique is sometimes used to determine whether the liver is affected by AVMs.
  • Magnetic resonance imaging (MRI). Your doctor may order an MRI scan to check your brain for any blood vessel abnormalities.
  • Bubble study. To screen for any abnormal blood flow caused by an AVM in your lung, your doctor may recommend a contrast echocardiography, also called a bubble study. It uses sound waves to examine the blood flow through your vessels. With bubble echocardiography, you'll receive an injection of saline solution that has air bubbles in it, making it easier for your doctor to see vessel malformations and blood flow.
  • Computerized tomography (CT) scan. This imaging test combines a series of X-ray views taken from many different angles and computer processing to create cross-sectional images of the bones and soft tissues inside your body. If a bubble echocardiogram reveals you may have a lung AVM, your doctor may order a CT scan of your lungs to confirm the diagnosis and assess whether you need surgery.
  • Colonosocopy and upper endoscopy. People with HHT due to mutations in the SMAD4 gene may be at increased risk for polyps. If this relates to you, your doctor may recommend screening including a colonoscopy and upper endoscopy.

Treatment

If you or your child has HHT, seek treatment at a medical center with experience treating it. Because the disorder is uncommon, finding a specialist in HHT can be difficult. In the United States, HHT Centers of Excellence, including Mayo Clinic, are designated by the HHT Foundation for their ability to diagnose and treat all aspects of the disorder.

No cure exists for HHT, but treatment can help avoid serious complications caused by abnormal blood vessels. HHT treatment often depends on which parts of the body are affected.

  • Nose. Telangiectases in the nose can cause bleeding that ranges from minor to severe. Minor nosebleeds may respond to home remedies, such as humidifying the air, using moisturizing nose sprays or drops, and avoiding strong nose blowing. Treatments for more-serious nosebleeds include laser coagulation therapy (ablation) and hormone therapy. People with severe disease affecting the nose may need a procedure called septal dermoplasty.
  • Skin. Often, people with telangiectases on the skin may choose a wait-and-watch approach. If the blood vessels bleed and discolor the skin, laser therapy is a treatment option. It can selectively destroy the discolored tissue.
  • Stomach and intestines. Bleeding in the stomach or the intestines is often difficult to treat due to the large number of telangiectases that may occur in those areas. Treatment may involve laser therapy, a heater probe, hormone therapy or a combination of these.
  • Lung. If an imaging test reveals you have arteriovenous malformations (AVMs) in a lung, your doctor may suggest treating them even if you don't have any symptoms. Left untreated, they may cause problems, such as a stroke.

    One treatment option is sealing off the AVM (embolization) with a procedure called pulmonary angiogram. The radiologist will first guide a thin tube (catheter) through a small incision in the skin of the groin and direct it to the AVM. He or she then stops blood flow to the AVM by placing a tiny balloon or coil.

  • Brain. Treatment for AVMs in the brain depends on their size, location, whether they are bleeding and your symptoms. Options include surgery, embolization, radiosurgery and, in some cases, observation.
  • Liver. Rarely, treatment for AVMs in the liver is a liver transplant.

Last updated: August 4th, 2017

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