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Hereditary hemorrhagic telangiectasia 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.
The incidence of hereditary hemorrhagic telangiectasia is difficult to determine because the severity of symptoms can vary widely and some symptoms, such as frequent nosebleeds, are common in the general population. In addition, arteriovenous malformations may be associated with other medical conditions. Hereditary hemorrhagic telangiectasia is widely distributed, occurring in many ethnic groups around the world. It is believed to affect between 1 in 5,000 and 1 in 10,000 people. Please discuss with your doctor for further information.
The most common sign of HHT is telangiectases in the nose and the most common symptom is recurring nosebleeds. The first sign of HHT usually does not occur until puberty or adulthood with the average age of the first nosebleed occurring at 12 years. Bleeding may occur as often as everyday or as infrequently as once a month. Recurrent nosebleeds are seen in 50-80% of patients with HHT.
Telangiectases in other parts of the body is not usually seen until after puberty and is most apparent in people aged between 20 and 40 years. It occurs in about 95% of patients with HHT. Telangiectasia of the skin and mucous membranes has the following characteristics:
In addition to visible telangiectases, abnormal blood vessel formation may occur in many other organs. Telangiectases can be found anywhere in the gastrointestinal (GI) system, including the oesophagus, stomach, and small and large intestines. GI bleeding occurs in about 25% of patients with HHT and the risk is increased in patients older than 50 years. Black or bloody stools and/or anaemia (low blood count) are the presenting symptoms. Other organs that may be affected include the lungs (AVM in the lungs occur in about 30% of patients with HHT) and central nervous system (brain and spinal AVM).
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.
The two major types of HHT are HHT1 and HHT2. They are caused by mutations in the endoglin (ENG) and activin receptor-like kinase type 1 (ACVLR1) genes found on chromosome 9 and 12 respectively. Two other genes have also been identified. A defect in just one of these genes causes an abnormality in the formation of blood vessels, which may easily rupture and bleed. The abnormal blood vessels are known as telangiectases, or arteriovenous malformations (AVM) if larger blood vessels are involved.
The vascular endothelial growth factor, VEGF, may modulate angiogenesis in HHT.
Please discuss with your doctor for further information.
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
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:
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:
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.
Please discuss with your doctor for further information.
If you have any questions, please consult with your doctor to better understand the best solution for you.
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