Hereditary hemorrhagic telangiectasia


What are the first steps after an initial diagnosis of hereditary hemorrhagic telangiectasia?

After an initial diagnosis of hereditary hemorrhagic telangiectasia (HHT), your doctor will take a comprehensive medical history to look for signs and symptoms of disease and will also run tests to determine whether specific organs are affected by telangiectasia or arteriovenous malformations. HHT is a disorder involving problems with the development of blood vessels. The small blood vessels called capillaries that normally connect the arteries to the veins are not there. This means that the arteries are connected directly to the veins. These abnormal connections are fragile, prone to rupturing and bleeding. When this involves small blood vessels this connection is called a telangiectasia; when it involves larger blood vessels, it is called an arteriovenous malformation.

You may be referred to a lung specialist (pulmonologist), a specialist who assesses and treats disorders of the brain and spinal cord (neurologist), specialist who assess or treats disorders of the liver (hepatologist), and other specialists or healthcare professionals.

The best way to obtain the most accurate, current, clear, and comprehensive information is to be seen at a HHT Center of Excellence. These are genetic centers that specialize in the treatment of patients with HHT. At most centers, you will see a medical geneticist, genetic counselor, and nurse who work as a team to answer your questions, discuss testing, identify your at-risk family members, and develop a comprehensive evaluation and treatment plan for you. A Center will work with your current doctors to organize the treatment, tests, and specialists you need. The HHT Foundation has information on HHT Centers of Excellence.

  • McDonald J, Pyeritz RE. Hereditary Hemorrhagic Telangiectasia. GeneReviews website. Accessed February 23, 2017.
  • Hereditary hemorrhagic telangiectasia. The National Organization for Rare Disorders website. Accessed February 23, 2017.
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Is there a cure for hereditary hemorrhagic telangiectasia?

Is there a cure for hereditary hemorrhagic telangiectasia?

There is no cure for hereditary hemorrhagic telangiectasia (HHT) in 2017. There are several treatments used to help reduce or manage the health problems seen in HHT. However, because the organ systems involved can vary greatly among people with this disorder, the treatment options will be different as well. This can be true even for people in the same family.

Chronic, frequent nosebleeds are a major issue in HHT. They can lead to anemia, a condition marked by low levels of red blood cells in the blood. Red blood cells help to deliver oxygen throughout the body. Anemia means that the body may not be getting enough oxygen and can lead to pale skin, fatigue, rapid heartbeats, shortness of breath, dizziness and other symptoms.

There are many ways doctors may treat nosebleeds in HHT. Humidification, which involves spraying a cool or warm mist into the nasal passages and lubrication often with a saline nasal spray may be effective in treating HHT. Sometimes, simply applying pressure to the nose can stop a nosebleed. There are a variety of over-the-counter products like gauze and sponges that patients can use to help stop or slow bleeding, or ointments that prevent the nasal passages from drying out. If these methods are ineffective, then doctors may try a laser to destroy the damaged tissue (laser ablation) or oral or topical medications. These medications have not been proven in clinical trials to be effective for treating nosebleeds in people with HHT. In people with severe bleeding who do not respond to other treatment options, a surgery called Young's nasal closure, may be considered. This surgery is a last-resort method and should be performed by a surgeon with experience in treating HHT.

Gastrointestinal bleeding may not require treatment. If it is severe enough to require treatment, then a procedure called endoscopic ablation may be recommend. This involves running a thin tube into the intestines and destroying the diseased tissue that is causing the bleeding. Other procedures may also be tried. Surgery has also been recommended for emergency control of bleeding. Bleeding from the gastrointestinal tract is difficult to treat and often doctors cannot completely stop the bleeding. There are medications that are being studied by researchers that may help to treat bleeding from the gastrointestinal tract.

Because gastrointestinal bleeding can lead to iron-deficiency anemia, doctors may prescribe iron replacement therapy. The main cause of iron-deficiency anemia in HHT is repeated nosebleeds. Treatment with iron supplements is usually sufficient to treat the condition. However, sometimes people may need parenteral supplementation or blood transfusions. Parenteral supplementation involves placing a thin tube called a catheter directly into a vein so that iron supplements can be delivered directly into the bloodstream. Parenteral treatment or blood transfusions are only used for people with severe bleeding that has not improved despite other therapies.

The treatment of arteriovenous malformations (AVMs) is complex and depends upon the organ system involved. An AVM in the liver may not be treated because it usually does not cause symptoms. AVMs in the lungs or brain are usually treated even if no symptoms are present, because of the risk of serious complications. The treatment of AVMs in HHT should be undertaken by doctors who are experienced in treating individuals with HHT. The HHT Foundation has information on treatment options for HHT and in 2009 a group of experts published The International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.

  • Shovlin C. Management of hereditary hemorrhagic telangiectasia. UpToDate, Inc. website. Accessed February 22, 2017.
  • Hereditary hemorrhagic telangiectasia. The National Organization for Rare Disorders website. Accessed February 23, 2017.
  • McDonald J, Pyeritz RE. Hereditary Hemorrhagic Telangiectasia. GeneReviews website. Accessed February 23, 2017.
  • Olitsky SE. Hereditary hemorrhagic telangiectasia: diagnosis and management. Am Fam Physician. 2010;82(7):785-90.
  • Faughnan ME, Palda VA, Garcia-Tsao G, et al. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet. 2011;48(2):73-87.

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