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The Patient's Guide to Hereditary Hemorrhagic Telangiectasia (HHT)

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Hereditary Hemorrhagic Telangiectasia (HHT) is a rare genetic disorder causing abnormal blood vessel formation. While it causes frequent nosebleeds, it also creates hidden AVMs in internal organs. Proper management requires proactive screening at a specialized HHT Center of Excellence.

Key Takeaways

  • • HHT is a rare genetic vascular disorder that affects blood vessel formation across the body.
  • • The condition is diagnosed using the Curaçao criteria and genetic testing for specific mutations like HHT1, HHT2, and SMAD4.
  • • While frequent nosebleeds are the most visible symptom, HHT can cause serious internal arteriovenous malformations (AVMs) in the lungs, liver, and brain.
  • • Managing HHT requires routine screening and a specialized care team, ideally coordinated through an HHT Center of Excellence.

Receiving a diagnosis of Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, can feel overwhelming. It is a rare genetic vascular disorder that affects how blood vessels form throughout the body [1]. Because it is rare—affecting roughly 1 in 5,000 to 10,000 people globally—it is common to feel confused or even dismissed by doctors unfamiliar with the condition [2].

This guide is designed to empower you with the knowledge you need to advocate for yourself and your family. While HHT is a lifelong condition, it is highly manageable with the right care team and proactive screening.

Explore the Guide:

Frequently Asked Questions

What is Hereditary Hemorrhagic Telangiectasia (HHT)?
HHT is a rare genetic disorder that affects how blood vessels form throughout the body. It causes fragile vessels that bleed easily, leading to frequent nosebleeds and potentially dangerous abnormal connections between arteries and veins called AVMs.
How is HHT diagnosed?
Doctors typically diagnose HHT using the Curaçao criteria, which look for recurrent nosebleeds, visible red spots called telangiectasias, internal AVMs, and a family history of the disease. Genetic testing can also confirm the specific mutation causing the condition.
What are the hidden warning signs of HHT?
While nosebleeds and red spots on the skin are visible signs, HHT can also cause hidden arteriovenous malformations (AVMs) in internal organs like the lungs, liver, and brain. These internal abnormal blood vessels often have no symptoms until a complication occurs, making routine screening essential.
Where should I seek treatment for HHT?
Because HHT is a rare disease, it is highly recommended to seek care at an HHT Center of Excellence. These specialized centers have multidisciplinary teams of experts familiar with the unique screening protocols and treatments required to manage the condition safely.

Questions for Your Doctor

  • • How do the Curaçao criteria apply to my specific symptoms and family history?
  • • Do you have experience managing Hereditary Hemorrhagic Telangiectasia (HHT) or can you refer me to an HHT Center of Excellence?
  • • What immediate steps should we take to manage my most severe symptom?

Questions for You

  • • How has my diagnostic journey affected my trust in medical providers?
  • • Which of my symptoms is currently causing me the most distress or affecting my daily life the most?
  • • Am I prepared to advocate for myself in healthcare settings where providers might not be familiar with my rare condition?

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References

  1. 1

    [Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): clinical manifestations and multidisciplinary management].

    Frigerio C, Aebischer N, Baud D, et al.

    Revue medicale suisse 2016; (12(517)):896-901.

    PMID: 27323484
  2. 2

    Multidisciplinary coordinated care of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease).

    Alkhalid Y, Darji Z, Shenkar R, et al.

    Vascular medicine (London, England) 2023; (28(2)):153-165 doi:10.1177/1358863X231151731.

    PMID: 36890671

This page provides an educational overview of Hereditary Hemorrhagic Telangiectasia (HHT). It is not a substitute for professional medical advice; always consult an HHT specialist or your care team for diagnosis and treatment.

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