Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia)

Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia)Osler-Weber-Rendu disease (OWRD) is a rare autosomal dominant disorder that affects blood vessels throughout the body (causing vascular dysplasia) and results in a tendency for bleeding. The prognosis varies, depending on the severity of symptoms; generally, it is good, as long as bleeding is promptly recognized and adequately controlled.
 HHT is manifested by mucocutaneous telangiectases and arteriovenous malformations (AVMs), a potential source of serious morbidity and mortality.  Lesions can affect the nasopharynx, central nervous system (CNS), lung, liver, and spleen, as well as the urinary tract, gastrointestinal (GI) tract, conjunctiva, trunk, arms, and fingers
 What Causes Osler-Weber-Rendu Syndrome? People with OWR inherit an abnormal gene that causes their blood vessels to form incorrectly. OWR is an autosomal dominant disorder. This means that only one parent needs to have the abnormal gene to pass it on to their children. OWR doesn’t skip a generation. However, the signs and symptoms may vary greatly between family members. If you have OWR, it’s possible that your child could have a milder or more severe course than you.
In very rare cases, a child can be born with OWR even when neither parent has the syndrome. This happens when one of the genes that cause OWR mutates in an egg or sperm cell. Diagnosing Osler-Weber-Rendu Syndrome The presence of telangiectasias is one indication of OWR. Other clues that might lead to a diagnosis include:·         frequent nosebleeds
·         anemia
·         bloody stools
·         having a parent with the syndrome
If you have OWR, you should be screened for AVMs in the lungs and brain. This can help your doctor detect a potentially dangerous problem before something goes wrong. An MRI can screen for problems in the brain. CT scans can detect lung AVMs.Your doctor can monitor the ongoing symptoms of this syndrome through regular checkups.Genetic testing isn’t usually needed to diagnose OWR. These tests are expensive and may not be available in all circumstances. People with a family history of OWR who are interested in genetic testing should discuss their options with a genetic counselor.