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 | 90% |
| Telangiectasia of the skin | 90% |
| Cavernous hemangioma | 50% |
| Microcytic anemia | 50% |
| Migraine | 50% |
| Portal hypertension | 50% |
| Spontaneous hematomas | 50% |
| Visceral angiomatosis | 50% |
| Abnormality of coagulation | 7.5% |
| Abnormality of the retinal vasculature | 7.5% |
| Biliary tract abnormality | 7.5% |
| Cerebral ischemia | 7.5% |
| Cirrhosis | 7.5% |
| Congestive heart failure | 7.5% |
| Conjunctival telangiectasia | 7.5% |
| Esophageal varix | 7.5% |
| Gastrointestinal hemorrhage | 7.5% |
| Hematuria | 7.5% |
| Hemoptysis | 7.5% |
| Hepatic failure | 7.5% |
| Intestinal polyposis | 7.5% |
| Nephrolithiasis | 7.5% |
| Peripheral arteriovenous fistula | 7.5% |
| Pulmonary embolism | 7.5% |
| Pulmonary hypertension | 7.5% |
| Seizures | 7.5% |
| Thrombophlebitis | 7.5% |
| Visual impairment | 7.5% |
| Arteriovenous fistulas of celiac and mesenteric vessels | - |
| Autosomal dominant inheritance | - |
| Celiac artery aneurysm | - |
| Cerebral arteriovenous malformation | - |
| Cerebral hemorrhage | - |
| Cyanosis | - |
| Dyspnea | - |
| High-output congestive heart failure | - |
| Ischemic stroke | - |
| Lip telangiectasia | - |
| Mesenteric artery aneurysm | - |
| Nasal mucosa telangiectasia | - |
| Palate telangiectasia | - |
| Pulmonary arteriovenous malformation | - |
| Right-to-left shunt | - |
| Spinal arteriovenous malformation | - |
| Spontaneous, recurrent epistaxis | - |
| Subarachnoid hemorrhage | - |
| Tongue telangiectasia | - |
| Transient ischemic attack | - |
| 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.
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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