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) |
| Arteriovenous fistulas of celiac and mesenteric vessels | - |
| - | |
| Cerebral arteriovenous malformation | - |
| Cyanosis | - |
| Dilatation of celiac artery | - |
| Dilatation of mesenteric artery | - |
| Dyspnea | - |
| Heterogeneous | - |
| High-output congestive heart failure | - |
| Ischemic stroke | - |
| Lip telangiectasia | - |
| Nasal mucosa telangiectasia | - |
| Palate telangiectasia | - |
| Pulmonary arteriovenous malformation | - |
| Right-to-left shunt | - |
| Spinal arteriovenous malformation | - |
| Spontaneous, recurrent epistaxis | - |
| Tongue telangiectasia | - |
| Venous varicosities of celiac and mesenteric vessels | - |
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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.
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
The following diseases are related to Hereditary hemorrhagic telangiectasia type 4. If you have a question about any of these diseases, you can contact GARD.
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