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) |
| Epistaxis | Very frequent (present in 80%-99% of cases) |
| Telangiectasia of the skin | Very frequent (present in 80%-99% of cases) |
| Cavernous hemangioma | Frequent (present in 30%-79% of cases) |
| Cholecystitis | Frequent (present in 30%-79% of cases) |
| Microcytic |
Frequent (present in 30%-79% of cases) |
| Migraine | Frequent (present in 30%-79% of cases) |
| Portal |
Frequent (present in 30%-79% of cases) |
| Spontaneous hematomas | Frequent (present in 30%-79% of cases) |
| Visceral angiomatosis | Frequent (present in 30%-79% of cases) |
| Amblyopia | Occasional (present in 5%-29% of cases) |
| Cerebral hemorrhage | Occasional (present in 5%-29% of cases) |
| Cholelithiasis | Occasional (present in 5%-29% of cases) |
| Cirrhosis | Occasional (present in 5%-29% of cases) |
| Congestive heart failure | Occasional (present in 5%-29% of cases) |
| Conjunctival telangiectasia | Occasional (present in 5%-29% of cases) |
| Esophageal varix | Occasional (present in 5%-29% of cases) |
| Gastrointestinal hemorrhage | Occasional (present in 5%-29% of cases) |
| Hematuria | Occasional (present in 5%-29% of cases) |
| Hemoptysis | Occasional (present in 5%-29% of cases) |
| Hepatic failure | Occasional (present in 5%-29% of cases) |
| Intestinal polyposis | Occasional (present in 5%-29% of cases) |
| Nephrolithiasis | Occasional (present in 5%-29% of cases) |
| Peripheral arteriovenous fistula | Occasional (present in 5%-29% of cases) |
| Pulmonary arterial hypertension | Occasional (present in 5%-29% of cases) |
| Pulmonary embolism | Occasional (present in 5%-29% of cases) |
| Retinal telangiectasia | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Subarachnoid hemorrhage | Occasional (present in 5%-29% of cases) |
| Transient ischemic attack | Occasional (present in 5%-29% of cases) |
| Venous thrombosis | Occasional (present in 5%-29% of cases) |
| Anemia | - |
| Arteriovenous fistulas of celiac and mesenteric vessels | - |
| - | |
| Brain abscess | - |
| Cerebral arteriovenous malformation | - |
| Clubbing | - |
| Cyanosis | - |
| Dilatation of celiac artery | - |
| Dilatation of mesenteric artery | - |
| Dyspnea | - |
| Fingerpad telangiectases | - |
| Gastrointestinal angiodysplasia | - |
| Gastrointestinal arteriovenous malformation | - |
| Gastrointestinal telangiectasia | - |
| Hematemesis | - |
| Hematochezia | - |
| Hepatic arteriovenous malformation | - |
| Heterogeneous | - |
| High-output congestive heart failure | - |
| Ischemic stroke | - |
| Lip telangiectasia | - |
| Melena | - |
| Nail bed telangiectasia | - |
| Nasal mucosa telangiectasia | - |
| Palate telangiectasia | - |
| Polycythemia | - |
| Pulmonary arteriovenous malformation | - |
| Right-to-left shunt | - |
| Spinal arteriovenous malformation | - |
| Spontaneous, recurrent epistaxis | - |
| Tongue telangiectasia | - |
| 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.
Individuals with GI bleeding are treated with iron therapy to maintain hemoglobin concentration; endoscopic application of a heater
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.[2] Preventive measures should be undertaken by those who have pulmonary AVMs, including
Cerebral AVMs greater than 1.0 cm in diameter are usually treated by surgery, embolotherapy, and/or stereotactic radiosurgery.[2][4] 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.[4]
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.[2]
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
The National Hereditary Hemorrhagic Telangiectasia Patient & Family Conference
July 19, 2016
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I have a family history of HHT. I was told I have COPD and COPD related-anemia. Is it possible that HHT caused the COPD? See answer
Can hereditary hemorrhagic telangiectasia (HHT) be treated? See answer
