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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu syndrome): update of August 28, 2026

What's new and why it matters

  1. A genetic test confirmed a rare syndrome related to hereditary hemorrhagic telangiectasia, leading to a re-evaluation of family diagnoses (Item 1). Based on: 1
  2. New studies are launching to test drugs like engasertib and ALN-6400 for their safety and effectiveness in reducing symptoms of hereditary hemorrhagic telangiectasia (Items 2, 3). Based on: 2, 3
  3. A review suggests some topical treatments may help with nosebleeds in hereditary hemorrhagic telangiectasia, although results differ across studies (Item 5). Based on: 5
  4. Research indicates hereditary hemorrhagic telangiectasia may be more common than previously thought, with genetic markers aiding in better management (Item 15). Based on: 15

Materials in this update

  1. Verifying genetic diagnoses: Hereditary hemorrhagic telangiectasia - juvenile polyposis syndrome (HHT-JPS) or familial adenomatous polyposis (FAP)?
    PubMed

    Aug 26, 2026

    A genetic test confirmed a patient had a rare syndrome related to hereditary hemorrhagic telangiectasia, helping to re-evaluate family members’ prior diagnoses.

  2. A Trial to Assess the Efficacy and Safety of Engasertib in Participants With Moderate to Severe Hereditary Hemorrhagic Telangiectasia (HHT)
    Clinical trials

    Registered study, no results yet

    Sep 17, 2026

    This new study aims to assess how well a drug called engasertib may reduce nosebleeds in patients with moderate to severe hereditary hemorrhagic telangiectasia.

  3. A Study to Evaluate ALN-6400 in Healthy Volunteers and Patients With Hereditary Hemorrhagic Telangiectasia (HHT)
    Clinical trials

    Registered study, no results yet

    Sep 16, 2026

    A study will explore the safety and effects of the drug ALN-6400 in both healthy individuals and those with hereditary hemorrhagic telangiectasia.

  4. Harmony-HHT: ATV-1601 in Participants With Hereditary Hemorrhagic Telangiectasia (HHT)
    Clinical trials

    Registered study, no results yet

    Sep 1, 2026

    This study is testing the safety and effectiveness of ATV-1601 on patients with moderate to severe hereditary hemorrhagic telangiectasia.

  5. Topical Intranasal Treatments for Epistaxis in Hereditary Hemorrhagic Telangiectasia: A Systematic Review.
    PubMed

    Aug 26, 2026

    A review found some topical treatments may help with nosebleeds in hereditary hemorrhagic telangiectasia, although results varied across studies.

  6. Translating evolutionary history and protein-focused machine learning supports increased prevalence of hereditary haemorrhagic telangiectasia, one of the most common inherited disorders.
    PubMed

    Aug 26, 2026

    Research suggests hereditary hemorrhagic telangiectasia may be more common than thought, impacting how it is diagnosed and managed.

  7. Atypical Presentation of Hereditary Hemorrhagic Telangiectasia Without Recurrent Epistaxis Leading to Delayed Diagnosis.
    PubMed

    Aug 26, 2026

    A case highlights that a patient with unusual symptoms was diagnosed with hereditary hemorrhagic telangiectasia, stressing the need to consider atypical signs.

  8. The molecular basis of arteriovenous malformations (AVMs): Review of inflammation in AVM pathogenesis.
    PubMed

    Aug 24, 2026

    This review discusses how inflammation may drive the development and complications of brain arteriovenous malformations.

  9. A Study on the Clinical Phenotypes and Genetic Analysis of ENG Variants in Four Hereditary Hemorrhagic Telangiectasia Type 1 Families.
    PubMed

    Aug 21, 2026

    This research identified new genetic changes in families with hereditary hemorrhagic telangiectasia type 1, linked to varying symptoms and conditions.

  10. Selective Venous Ammonia Sampling-Guided Embolization of a Large Intrahepatic Portovenous Shunt for Refractory Hepatic Encephalopathy in Hereditary Hemorrhagic Telangiectasia.
    PubMed

    Aug 21, 2026

    A treatment method using ammonia sampling showed promise in improving symptoms of severe liver complications in hereditary hemorrhagic telangiectasia patients.

  11. Systemic therapies in hereditary hemorrhagic telangiectasia: Current evidence and emerging targets.
    PubMed

    Aug 21, 2026

    A review is examining current evidence on treatments for hereditary hemorrhagic telangiectasia and exploring new potential therapies.

  12. Topical TOR-582 Treatment of Epistaxis in HHT
    Clinical trials

    Registered study, no results yet

    Aug 21, 2026

    A study will evaluate how safe and effective a topical treatment is for managing nosebleeds in patients with hereditary hemorrhagic telangiectasia.

  13. A Pediatric Case of Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome Diagnosed by Anemia With PAVM.
    PubMed

    Aug 20, 2026

    This pediatric case study highlights a child's diagnosis of a rare syndrome linked to anemia and pulmonary issues.

  14. IV Bevacizumab Treatment of Patients With Hereditary Hemorrhagic Telangiectasia (HHT) or Rendu-Osler (RO) Disease: A Retrospective Analysis of French Cohort Data From 2009 to 2024
    Clinical trials

    Registered study, no results yet

    Aug 19, 2026

    This analysis aims to examine the effectiveness of a drug for treating hereditary hemorrhagic telangiectasia in French patients.

  15. Is hereditary hemorrhagic telangiectasia really a rare disease?
    PubMed

    Aug 19, 2026

    Research indicates hereditary hemorrhagic telangiectasia is often underdiagnosed and identifies important genetic markers for better management.

  16. An unexpected pulmonary pathology in a 26-year-old man with recurrent syncope.
    PubMed

    Aug 18, 2026

    A case report describes a young man whose fainting spells were related to a rare lung condition linked to hereditary hemorrhagic telangiectasia.

  17. Hereditary haemorrhagic telangiectasia presenting with refractory gastrointestinal bleeding.
    PubMed

    Aug 18, 2026

    A patient with severe gastrointestinal bleeding found relief through specific treatments for hereditary hemorrhagic telangiectasia.

  18. Institutional Registry of Haemorrhagic Hereditary Telangiectasia
    Clinical trials

    Registered study, no results yet

    Jul 30, 2026

    A new registry is being established to improve the understanding and treatment of hereditary hemorrhagic telangiectasia.

  19. Treatment of Hereditary Hemorrhagic Telangiectasia of the Nasal Mucosa by Intranasal Bevacizumab : Search for Effective Dose
    Clinical trials

    Registered study, no results yet

    Jul 30, 2026

    This study will explore the best dose of an intranasal treatment for nosebleeds in patients with hereditary hemorrhagic telangiectasia.

  20. Single-Cell Analysis of Brain Arteriovenous Malformations Reveals Pro-Angiogenic Myeloid Programs.
    PubMed

    Jul 30, 2026

    A study analyzed immune cells in brain arteriovenous malformations, showing a link to new treatment strategies.

  21. Doxycycline for epistaxis in hereditary hemorrhagic telangiectasia: genotype-stratified outcomes.
    PubMed

    Jul 13, 2026

    A study looked at how well doxycycline might reduce nosebleeds in people with hereditary hemorrhagic telangiectasia, analyzing responses based on their genetic types.

All updates for Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu syndrome)

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