Hereditary hemorrhagic telangiectasia
- Osler Weber Rendu syndrome
- ORW disease
- Osler-Rendu-Weber disease
- Rendu-Osler-Weber disease
On this page
Treatment of nosebleeds with humidification and nasal lubricants, laser ablation, septal dermoplasty, or estrogen-progesterone therapy can prevent anemia and allow individuals with HHT to pursue normal activities. In more severe cases, coagulation therapy may be needed.
Individuals with GI bleeding are treated with iron therapy to maintain hemoglobin concentration; endoscopic application of a heater probe, bicap, or laser; surgical removal of bleeding sites; and estrogen-progesterone therapy. Iron replacement and red blood cell transfusions are used to treat anemia.
Treatment of pulmonary AVMs is indicated for dyspnea, exercise intolerance, hypoxemia, and prevention of lung hemorrhage and the neurologic complications of brain abscess and stroke. Pulmonary AVMs with feeding vessels that exceed 1.0 mm in diameter require consideration of occlusion. Preventive measures should be undertaken by those who have pulmonary AVMs, including antibiotics prior to dental or surgical procedures, the implementation of IV filters, avoidance of blood thinners and non-steroidal anti-inflammatory medications, and regular monitoring by a qualified medical professional.
Cerebral AVMs greater than 1.0 cm in diameter are usually treated by surgery, embolotherapy, and/or stereotactic radiosurgery. Liver AVMs are currently treated only if a patient shows signs of heart failure or other significant health problems. Treatments might include liver transplantation or medications like bevacizumab.
Surveillance includes annual evaluations for anemia and neurologic conditions and re-evaluation for pulmonary AVMs every one to two years during childhood and every five years thereafter. Women with HHT considering pregnancy are screened and treated for pulmonary AVMs; if pulmonary AVMs are discovered during pregnancy, they are treated during the second trimester.
- Treatment of HHT. Cure HHT. 2015; http://curehht.org/living-with-hht/screening-and-treatment/.
- McDonald J, Pyeritz RE. Hereditary Hemorrhagic Telangiectasia. GeneReviews. July 24, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1351/.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The International HHT guidelines goal was to develop evidence-informed consensus guidelines regarding the diagnosis of HHT and the prevention of HHT-related complications and treatment of symptomatic disease. Click on the link to read the abstract for the International Guidelines, published in February 2011 in the American Journal of Medical Genetics.
- ClinicalTrials.gov lists trials that are studying or have studied Hereditary hemorrhagic telangiectasia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.