Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Features include: Cerebral hemorrhage, Pulmonary arteriovenous malformation, Right-to-left shunt, and Arteriovenous fistulas of celiac and mesenteric vessels and 18 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 5 | Cerebral hemorrhage, Migraine, Ischemic stroke |
Consensus clinical diagnostic criteria (Curaao criteria) for hereditary hemorrhagic telangiectasia (HHT) are available with proposed updates .
HHT should be considered in an individual with any of the following revised Curaao criteria:
Source: GeneReviews — "Hereditary Hemorrhagic Telangiectasia"
No approved treatments are currently available for hereditary hemorrhagic telangiectasia type 4. The disease remains an area of unmet medical need.
Guidelines for management of hereditary hemorrhagic telangiectasia (HHT) have been published . They should be considered supplementary to those recommended by an expert in clinical management of HHT as typically seen at HHT Centers of Excellence.
To establish the extent of disease and needs in an individual diagnosed with HHT, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended .
The evaluations summarized in are recommended for all individuals with an established diagnosis of HHT and for all individuals at risk for HHT based on family history in whom HHT has not been ruled out by molecular genetic testing .
Table 7.
Hereditary Hemorrhagic Telangiectasia: Recommended Surveillance
System/Concern | Evaluation | Frequency
No clinical trials have been registered for hereditary hemorrhagic telangiectasia type 4.
14 publications have been identified in PubMed for hereditary hemorrhagic telangiectasia type 4. Research spans Case Report / Case Series (36%), Basic Science / Preclinical (36%), and Review / Meta-Analysis (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 5 | 36% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
5 |
Palate telangiectasia, Visible small blood vessels in the eye (conjunctival telangiectasia), Tongue telangiectasia |
Heart and blood vessels | 4 | Ischemic stroke, Transient ischemic attack, High-output congestive heart failure |
Lungs and breathing | 2 | Pulmonary arteriovenous malformation, Dyspnea |
Head and neck | 2 | Palate telangiectasia, Lip telangiectasia |
Eyes | 1 | Visible small blood vessels in the eye (conjunctival telangiectasia) |
Age of onset: adolescence.
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. Small AVMs are called telangiectases. The term AVM usually refers to the "large" telangiectases, greater than a few millimeters in diameter and sometimes up to several centimeters in diameter. The most common feature that brings individuals with HHT to medical attention is epistaxis (nosebleeds). Table 2. Hereditary Hemorrhagic Telangiectasia: Frequency of Select Features
Feature | % of Persons w/Feature1 | Comment |
|---|---|---|
Epistaxis | ~95% | — |
Telangiectases | ~95% | Primarily on lips, tongue, face, fingers, buccal, nasal, GI mucosa |
Anemia | 50% | — |
Pulmonary AVMs | 30%-50% | More common in those w/ENG-related HHT |
Hepatic AVMs | ~40%-70% | 10% are symptomatic. |
Cerebral AVMs | ~10% | 15%-20% if capillary telangiectases, cavernomas, developmental venous anomalies are included |
Pulmonary artery hypertension | ~1%-2% | WHO group 2 PH much more common AVM = arteriovenous malformation; GI = gastrointestinal; HHT = hereditary hemorrhagic telangiectasia; PH = pulmonary hypertension; WHO = World Health Organization 1. Features of HHT are age-related. Upward of 95% of individuals with HHT experience recurrent epistaxis. |
Source: GeneReviews — "Hereditary Hemorrhagic Telangiectasia"
Recurrent epistaxis can be a sign of various bleeding diatheses including von Willebrand disease , but may also be seen in otherwise healthy individuals. Telangiectases occur in a number of conditions:
Source: GeneReviews — "Hereditary Hemorrhagic Telangiectasia"
Table 4.
Hereditary Hemorrhagic Telangiectasia: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
Epistaxis/
Other bleeding/
| • Assess for history of epistaxis GI bleeding.
Nasal, oral, cutaneous exam for telangiectases
| Also consider other causes of anemia if disproportionate to the amount of epistaxis; medical problems unrelated to HHT (e.g., ulcers, colon cancer) can cause GI blood loss.
Complete blood count to assess for anemia /or polycythemia | Polycythemia raises suspicion for large pulmonary AVMs.
Ferritin level to assess for iron deficiency |
Pulmonary AVMs/
Pulmonary arterial
hypertension | • Assess for history of TIA, stroke, dyspnea, migraines, or hemoptysis.
Source: GeneReviews — "Hereditary Hemorrhagic Telangiectasia"
Individuals with significant epistaxis are advised to avoid vigorous nose blowing, lifting of heavy objects, straining during bowel movements, and finger manipulation in the nose. Some individuals with HHT experience increased epistaxis after drinking alcohol. Anticoagulants including aspirin and nonsteroidal anti-inflammatory agents such as ibuprofen that interfere with normal clotting should be avoided unless required for treatment of other medical conditions. However, HHT is not an absolute contraindication for anticoagulation (prophylactic or therapeutic) or antiplatelet therapy. It is recommended that individuals with HHT receive these therapies when there is an indication, with consideration of their individualized bleeding risks . Two case series demonstrated that anticoagulation or antiplatelet therapy is well tolerated by most individuals with HHT . Note: A nonsteroidal anti-inflammatory drug that does not inhibit platelet aggregation may be preferred (e.g., celecoxib). When anticoagulation is pursued, unfractionated heparin, low-molecular-weight heparin, and vitamin K antagonists are preferred over direct-acting oral anticoagulants, which are less well tolerated in individuals with HHT . In individuals with atrial fibrillation, if anticoagulation is not tolerated, alternate approaches can be considered, such as left atrial appendage closure .
Source: GeneReviews — "Hereditary Hemorrhagic Telangiectasia"
Newer therapies designed to interfere with the development of abnormal vascular connections are being investigated; while numerous case reports, small uncontrolled series, and small randomized clinical trials indicate promise, results from larger controlled trials are needed. Specific agents under various stages of study include the following:
Source: GeneReviews — "Hereditary Hemorrhagic Telangiectasia"
View trials for hereditary hemorrhagic telangiectasia type 4
| • Hematocrit/Hgb
Ferritin
| • In adults: TCE w/agitated saline contrast if previous TCE did not reveal evidence of significant right-to-left shunt
In children: TCE w/agitated saline contrast OR chest radiograph w/pulse oximetry1
| • TCE should generally be done every 5 yrs in those w/normal TCE.
Some HHT centers recommend continued surveillance w/TCE for those w/mild shunt2 proceed to chest CT if shunt worsens to moderate or severe. Other centers perform chest CT in all persons w/abnormal findings on TCE (even mild shunt), then monitor by chest CT every 5 yrs.
| Brain MRI (w/ w/o contrast using sequences that detect blood products) | • Repeat MRI by age 18-20 yrs is routinely done in the US3 if initial MRI was done in childhood, as development or evolution of cerebral AVMs in 1st 2 decades of life has been reported.4
Source: GeneReviews — "Hereditary Hemorrhagic Telangiectasia"
Laboratory research
5 |
36% |
Research summaries | 2 | 14% |
Disease patterns and progression | 2 | 14% |
Raming K (2026). [PMID: 40953350](https://pubmed.ncbi.nlm.nih.gov/40953350/). *Retina*. [Epidemiology / Natural History]
Jutant EM (2026). [PMID: 41713948](https://pubmed.ncbi.nlm.nih.gov/41713948/). *Eur Respir J*. [Review / Meta-Analysis]
Lai M (2026). [PMID: 41914867](https://pubmed.ncbi.nlm.nih.gov/41914867/). *Radiology*. [Epidemiology / Natural History]
Sturiale CL (2026). [PMID: 41915210](https://pubmed.ncbi.nlm.nih.gov/41915210/). *J Neurol*. [Basic Science / Preclinical]
Ramakrishnan A (2025). [PMID: 41030324](https://pubmed.ncbi.nlm.nih.gov/41030324/). *Respir Med Case Rep*. [Case Report / Case Series]
DeBose-Scarlett E (2025). [PMID: 39939156](https://pubmed.ncbi.nlm.nih.gov/39939156/). *J Med Genet*. [Case Report / Case Series]
Falk AR (2025). [PMID: 40061558](https://pubmed.ncbi.nlm.nih.gov/40061558/). *JTCVS Open*. [Case Report / Case Series]
Schwartze TA (2025). [PMID: 39793884](https://pubmed.ncbi.nlm.nih.gov/39793884/). *J Mol Biol*. [Basic Science / Preclinical]
Ramakrishnan A (2025). [PMID: 41229706](https://pubmed.ncbi.nlm.nih.gov/41229706/). *Respir Med Case Rep*. [Case Report / Case Series]
Suzuki T (2025). [PMID: 40487384](https://pubmed.ncbi.nlm.nih.gov/40487384/). *Surg Case Rep*. [Case Report / Case Series]