This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
Nosebleed[ more ]
|Telangiectasia of the skin||0100585|
|30%-79% of people have these symptoms|
Intermittent migraine headaches
Migraine headaches[ more ]
|5%-29% of people have these symptoms|
Wandering eye[ more ]
Scar tissue replaces healthy tissue in the liver
|Congestive heart failure||
Heart failure[ more ]
Blood in urine
Coughing up blood
|Peripheral arteriovenous fistula||0100784|
|Pulmonary arterial hypertension||
Increased blood pressure in blood vessels of lungs
|Transient ischemic attack||
Blood clot in vein
|Percent of people who have these symptoms is not available through HPO|
Low number of red blood cells or hemoglobin
|Arteriovenous fistulas of celiac and mesenteric vessels||0002642|
|Cerebral arteriovenous malformation||0002408|
Clubbing of fingers and toes
|Dilatation of celiac artery||0100858|
|Dilatation of mesenteric artery||0011934|
Small dilated blood vessels in fingerpads
|Gastrointestinal arteriovenous malformation||0002629|
Small, enlarged blood vessels near skin
|Hepatic arteriovenous malformation||0006574|
|High-output congestive heart failure||0001722|
|Nail bed telangiectasia||0001232|
|Nasal mucosa telangiectasia||
Spider veins of mucosa of nose
Spider veins of mucous membrane of nose
Spider veins of nasal mucous membrane[ more ]
Telangiectasia of the roof of the mouth
|Pulmonary arteriovenous malformation||0006548|
|Spinal arteriovenous malformation||0002390|
|Spontaneous, recurrent epistaxis||
Spontaneous, recurrent nosebleed[ more ]
|Venous varicosities of celiac and mesenteric vessels||0002626|
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 AVMs of the lungs (pulmonary AVMs) is recommended if the person with HHT is having a hard time breathing (dyspnea), is unable to exercise without extreme fatigue (exercise intolerance), or has low blood oxygen levels (hypoxemia). Treatment of pulmonary AVMs may also be performed to prevent lung hemorrhage and the neurologic complications of brain abscesses and/or stroke. Treatment may include inserting a small inflated balloon or small metal coil in the artery that leads into the AVM in order to stop the blood flow through the AVM (embolotherapy) or surgical removal of the AVM. People with pulmonary AVMs are advised to take extra precautions to avoid serious complications. These recommendations include taking
AVMs in the brain (cerebral AVMs) greater than 1.0 cm in diameter may be surgically removed. Alternative treatment includes inserting a small inflated balloon or glue-like substance to stop the blood flow through the artery involved in the AVM (embolotherapy) and/or using a narrow, focused beam of radiation to destroy the AVM (stereotactic radiosurgery).
AVMs in the liver (hepatic AVMs) are currently treated only if a person shows signs of heart failure or significant health problems related to the liver not working properly. Treatment might include standard heart failure medications, liver transplantation, or medications like bevacizumab.
In addition, guidelines for people with HHT recommend 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. Blood tests to check for anemia may be recommended more often depending on the frequency and severity of nose bleeds or if an intestinal or stomach AVM is bleeding. 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.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
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