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Osler-Weber-Rendu syndrome is another name for hereditary hemorrhagic telangiectasia or HHT, a disorder that affects the blood vessels. In people with HHT, the blood vessels that join arteries to veins form improperly. When these abnormalities occur in small blood vessels, they are called telangiectases; in larger vessels, they are called arteriovenous malformations, or AVMs. HHT is not life-threatening, but it can increase the risk of stroke, bring on anemia, or cause bleeding in the digestive tract.

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The Nose Knows

While there is currently no cure for Osler-Weber-Rendu syndrome, the symptoms can be effectively managed with the proper care. Symptoms and their severity vary greatly from person to person, even those in the same family. Nose telangiectases can cause relatively minor to severe nosebleeds. Minor nosebleeds are addressed by humidifying the air and using moisturizing nose sprays or drops. More serious nosebleeds might require laser coagulation and hormone therapy. In the most extreme cases, the individual may need to undergo a septal dermoplasty procedure.

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Watch Your Mouth

HHT or Osler-Weber-Rendu syndrome is easily identifiable when it affects the tongue and mouth. While lesions on the tongue or mouth bleed less often than in the nose, the fine red vessels can be visually unappealing, especially when they affect the lips. About 80 percent of people who have HHT find their lips, mouth, and tongue are affected. The ailment may even show up on areas of the face are exposed to the sun.

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Iron Will

Another symptom of hereditary hemorrhagic telangiectasia is iron deficiency anemia. The presence of arteriovenous malformations (AVMs) in the liver is often difficult to treat because of the considerable amount of telangiectases found there. The almost-constant bleeding usually calls for iron supplements and, in extreme cases, blood transfusions. Other treatments can include laser therapy, hormone therapy, a heater probe, or a combination of these treatments. Blood in the stool is a common identifier of this internal bleeding.

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It's in the Genes

A person probably has Osler-Weber-Rendu syndrome if they match three of the following four conditions: recent nosebleeds that started for no reason; visible telangiectases on the lips, mouth, fingers, or nose; internal telangiectases (AVMs) in the lungs, brain, digestive tract, liver or spine; and a family history of HHT. A doctor can confirm the diagnosis through genetic testing. If a parent has HHT, their child has a 50-50 chance of inheriting the hereditary hemorrhagic telangiectasia gene.

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Breathe In

When AVMs affect the major organs such as the lungs and go untreated, it can lead to other, more serious conditions. AVMs in the lungs can be revealed through chest x-rays, or a diagnosis of hypoxia -- low oxygen levels. Symptoms of this kind of Osler-Weber-Rendu syndrome are rare but could lead to a stroke if undiagnosed. A procedure called bubble contrast echocardiography can identify lesions in the lungs. A pulmonary angiogram can seal off these lesions.

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What's on Your Brain?

AVMs in the brain can cause severe headaches or seizures. Computed tomography angiography (CTA) or magnetic resonance angiography (MRA) can detect this issue by showing details of the brain's blood vessels. AVMs in the brain vary in size and location. Some show no symptoms and may recede over time. However, some people require open brain surgery; the Spetzler-Martin scale, which gives a higher value to larger lesions near important areas of the brain, will determine this. Embolization and radiosurgery, a type of radiation therapy, are less risky treatments.

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Liver AVMs

Liver AVMs are difficult to detect and almost impossible to treat. The most reliable screening test is Doppler ultrasonography, which can identify vascular lesions in the liver. A contrast-enhanced CT can also detect lesions. Those who exhibit symptoms of liver dysfunction should consult a doctor because liver problems can lead to cardiac failure. Initial treatment generally includes restricting the intake of both salt and fluids and the use of diuretics to reduce the volume of circulating blood. Unfortunately, the only known treatment for liver AVMs is liver transplant.

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The Genetics Test

Osler-Weber-Rendu syndrome is relatively easy to diagnose through physical exams and imaging. There are several reasons to undergo gene testing, however. First of all, children and young adults with a parent who has an HHT diagnosis may have limited symptoms but still be at risk for some of the complications. A gene test is proof one way or the other. Secondly, genetic testing can confirm a diagnosis of hereditary hemorrhagic telangiectasia even though the subject shows limited symptoms.

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Skin Deep

Lesions that appear on the skin of people with Osler-Weber-Rendu syndrome range from mild bumps to discoloration and disfiguration. Sometimes, the lesions are a source of pain. Skin lesions on the fingertips can bleed and discolor the fingers. Laser therapy can treat this issue by destroying the affected tissue. In severe cases, skin grafting can treat the problem.

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Looking to the Future

Recent studies have shown possible progress in the treatment of hereditary hemorrhagic telangiectasia. A large study used an antibody to decrease the number of nosebleeds in patients. An anti-angiogenesis drug was also reported to have beneficial effects. Medical professionals recommend any child with Osler-Weber-Rendu syndrome or with a family history of the condition undergo a brain MRI (magnetic resonance imagining) early in life to identify possible AVMs.

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Disclaimer

This site offers information designed for educational purposes only. You should not rely on any information on this site as a substitute for professional medical advice, diagnosis, treatment, or as a substitute for, professional counseling care, advice, diagnosis, or treatment. If you have any concerns or questions about your health, you should always consult with a physician or other healthcare professional.