Hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (tuh-lan-jee-uk-TAY-zhuh) is an inherited disorder that causes abnormal connections, called arteriovenous malformations (AVMs), to develop between arteries and veins. The most common locations affected are the nose, lungs, brain and liver.

These AVMs may enlarge over time and can bleed or rupture, sometimes causing catastrophic complications.

Spontaneous and unprovoked nosebleeds, sometimes on a daily basis, are the most common feature. Persistent bleeding from the nose and the intestinal tract can result in severe iron deficiency anemia and poor quality of life.

Also known as Osler-Weber-Rendu disease, hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder that you inherit from your parents. Its severity can vary greatly from person to person, even within the same family.

If you have HHT, you may want to have your children checked for the disease because they can be affected even if they're not experiencing any symptoms.

Signs and symptoms of HHT include:

• Nosebleeds, sometimes on a daily basis and often starting in childhood
• Lacy red vessels or tiny red spots, particularly on the lips, face, fingertips, tongue and inside surfaces of the mouth
• Iron deficiency anemia
• Shortness of breath
• Headaches
• Seizures

HHT is a genetic disorder you inherit from your parents. It is an autosomal dominant disorder, which means that if one of your parents has HHT, you have a 50 percent chance of inheriting it. If you have HHT, each of your children has a 50 percent chance of inheriting it from you.

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 also may suggest you undergo genetic testing for HHT, which may confirm a suspected diagnosis.

Imaging tests

In HHT, abnormal connections called arteriovenous malformations (AVMs) develop between arteries and veins. The organs most commonly affected by HHT are the lungs, brain and liver. To locate AVMs, your doctor may recommend one or more of the following imaging tests:

• 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 a lung, your doctor may recommend a special echocardiogram called a bubble study.
• Computerized tomography (CT) scan. If a bubble study reveals a feature that looks like a lung AVM, your doctor may order a CT scan of your lungs to confirm the diagnosis and assess whether you need surgery.

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 are designated by Cure HHT for their ability to diagnose and treat all aspects of the disorder.

Medications

Drugs that help reduce the bleeding associated with HHT can be divided into three broad categories:

• Hormone-related drugs. Medications containing estrogen can be helpful, but side effects are common with the high doses needed. Anti-estrogens such as tamoxifen (Soltamox) and raloxifene (Evista) also have been used to control HHT.
• Drugs that block blood vessel growth. One of the most promising treatments for HHT is bevacizumab (Avastin) given through a tube in a vein (intravenously). Other drugs that block blood vessel growth are being studied for HHT treatment. Examples include pazopanib (Votrient) and pomalidomide (Pomalyst).
• Drugs that slow the disintegration of clots. Tranexamic acid (Cyklokapron, Lysteda) can help stop extreme bleeding in emergencies and may be useful if taken regularly to prevent bleeding.

If you develop iron deficiency anemia, your doctor may also suggest intravenous iron replacement treatments, which usually are more effective than taking iron pills.

Surgical and other procedures for the nose

Severe nosebleeds are one of the most common signs of HHT. These sometimes occur on a daily basis and can cause so much blood loss that you become anemic and need frequent blood transfusions or iron infusions.

Procedures to reduce the frequency and severity of nosebleeds may include:

• Ablation. This procedure uses energy from lasers or a high-frequency electrical current to seal the abnormal vessels that are causing the nosebleeds. However, this is typically a temporary solution and the nosebleeds eventually recur.
• Skin graft. Your doctor may suggest taking a skin graft from another part of your body, usually the thigh, to transplant inside your nose.
• Surgically closing the nostrils. If nothing else works, connecting flaps of skin within the nose to permanently close the nostrils is often successful. This is done only in extreme cases when other approaches have failed.

Surgical and other procedures for the lungs, brain and liver

The most common organs affected by HHT are the lungs, brain and liver. Procedures to treat AVMs in these organs may include:

• Embolization. In this procedure, a long, slender tube is threaded through your blood vessels to the problem area, where a plug or a metal coil is deployed to block blood from entering the AVM, which eventually shrinks and heals. Embolization is often used for lung and brain AVMs.
• Surgical removal. In some people, the best option is to surgically remove AVMs in the lungs, brain or liver. The location of the AVM, particularly in the brain, can increase the surgical risks.
• Stereotactic radiotherapy. This procedure is used for AVMs in the brain. It employs beams of radiation from many different directions, all intersecting at the AVM to destroy it.
• Liver transplant. Rarely, treatment for AVMs in the liver is a liver transplant.

To help prevent HHT nosebleeds, you may want to:

• Avoid certain medications. Your risk of bleeding can be increased by over-the-counter drugs and supplements such as aspirin, ibuprofen (Advil, Motrin IB, others), fish oil supplements, ginkgo and St. John's wort.
• Avoid certain foods. In some people, HHT nosebleeds are triggered when they consume blueberries, red wine, dark chocolate or spicy foods. You might want to keep a food diary to see if there's any connection between what you eat and the severity of your nosebleeds.
• Keep your nose moist and lubricated at all times. Applying saline sprays and moisturizing ointments can help reduce the risk of bleeding. Using a bedside humidifier overnight also is helpful.

Here's some information to help you get ready for your appointment.

What you can do

When you make the appointment, ask if there's anything you need to do in advance, such as fasting before having a specific test. Make a list of:

• Your symptoms, including any that seem unrelated to the reason for your appointment
• Key personal information, including major stresses, recent life changes and family medical history
• All medications, vitamins or other supplements you take, including the doses
• Questions to ask your doctor

Take a family member or friend along, if possible, to help you remember the information you're given.

Some basic questions to ask your doctor include:

• What's likely causing my symptoms?
• Other than the most likely cause, what are other possible causes for my symptoms?
• What tests do I need?
• Is my condition likely temporary or chronic?
• What's the best course of action?
• What are the alternatives to the primary approach you're suggesting?
• I have these other health conditions. How can I best manage them together?
• Are there restrictions I need to follow?
• Should I see a specialist?
• Are there brochures or other printed material I can have? What websites do you recommend?

Don't hesitate to ask other questions.

What to expect from your doctor

Your doctor is likely to ask you several questions, such as:

• When did your symptoms begin?
• Have your symptoms been continuous or occasional?
• How severe are your symptoms?
• What, if anything, seems to improve your symptoms?
• What, if anything, appears to worsen your symptoms?