The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Telangiectasia of the skin||90%|
|Abnormality of coagulation||7.5%|
|Abnormality of the retinal vasculature||7.5%|
|Biliary tract abnormality||7.5%|
|Congestive heart failure||7.5%|
|Peripheral arteriovenous fistula||7.5%|
|Arteriovenous fistulas of celiac and mesenteric vessels||-|
|Autosomal dominant inheritance||-|
|Celiac artery aneurysm||-|
|Cerebral arteriovenous malformation||-|
|Gastrointestinal arteriovenous malformation||-|
|Hepatic arteriovenous malformation||-|
|High-output congestive heart failure||-|
|Mesenteric artery aneurysm||-|
|Nail bed telangiectasia||-|
|Nasal mucosa telangiectasia||-|
|Pulmonary arteriovenous malformation||-|
|Spinal arteriovenous malformation||-|
|Spontaneous, recurrent epistaxis||-|
|Transient ischemic attack||-|
|Venous varicosities of celiac and mesenteric vessels||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
New Rare Disease Patient Video Series
July 18, 2016
The following diseases are related to Hereditary hemorrhagic telangiectasia. If you have a question about any of these diseases, you can contact GARD.
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