Osler Weber Rendu syndrome, also known as hereditary hemorrhagic telangiectasia, is a genetic disorder that causes irregular blood vessel formations, leading to skin breakdown and severe internal or external bleeding. It is most common in Caucasians and requires lifelong management. Symptoms include purplish-red clusters of blood vessels, nosebleeds, and bleeding inside and outside the body. Diagnosis involves physical exams, blood tests, and imaging. Treatment varies depending on the severity of the condition and may include estrogen therapy, surgical cauterization, and blood transfusions. The disorder does not affect mental or cognitive abilities and can be passed down from parents to children.
Osler Weber Rendu syndrome is a genetic disorder characterized by irregular formations of blood vessels throughout the body. The condition causes skin breakdown and severe internal or external bleeding. Osler Weber Rendu syndrome requires lifelong management.
The condition, also known as hereditary hemorrhagic telangiectasia, occurs when capillaries do not develop normally. As a result, veins and arteries connect directly in certain areas of the body. Veins and arteries have different levels of pressure, so ruptures tend to occur where the two systems meet.
People who have this condition often have purplish-red clusters of blood vessels called tenangiectasis on the face, lips, tongue, and fingers, as well as other areas of the body. These clusters break and bleed easily. Some patients also suffer from frequent and profuse nosebleeds.
Many of these patients experience bleeding both inside and outside the body. They may have black or tarry stools, indicating bleeding in the gastrointestinal tract, or they may be coughing up blood. Some people experience serious complications such as high blood pressure, stroke or heart failure due to bleeding within the brain or body.
Osler Weber Rendu syndrome is most commonly seen in people of Caucasian descent, but it can also affect people of Asian, African, and Arab descent. The disorder affects males and females equally. It usually appears at the age of 30.
A doctor who suspects Osler Weber Rendu syndrome will perform a thorough physical exam. He or she will look at your face and body for the presence of spider veins and do blood tests to check for anemia. The ability of the blood to clot normally will also be measured.
Your doctor might also take chest X-rays to look for arteriovenous malformations (AVMs) on your lungs or order magnetic resonance imaging (MRI) to look for bleeding in your brain. If you experience bleeding in your gastrointestinal tract, your doctor may perform an endoscopy. In this test, a long, flexible tube fitted with a tiny camera films the inside of the body.
Doctors treat Osler Weber Rendu syndrome according to the patient’s needs. Some people who experience frequent nosebleeds benefit from estrogen therapy. Others may require surgical cauterization to treat areas that bleed frequently. Some patients require blood transfusions from time to time, depending on the severity of the condition.
Osler Weber Rendu syndrome does not affect the patient’s mental or cognitive abilities and usually does not shorten the patient’s life span. Parents can pass the disorder on to their children. A genetic counselor can advise a prospective parent who has a history of the disease in their family.
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