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PubMed This is a summary of 58 peer-reviewed journal articles Updated
Medical Genetics

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

At a Glance

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.

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:

01

Understanding Your HHT Diagnosis

Learn how Hereditary Hemorrhagic Telangiectasia (HHT) is diagnosed. Understand the Curaçao criteria, AVMs, telangiectasias, and what to ask your doctor.

02

Symptoms and Warning Signs of HHT

Learn the visible symptoms and silent warning signs of Hereditary Hemorrhagic Telangiectasia (HHT). Understand nosebleeds, red spots, and hidden AVM risks.

03

The Biology and Genetics of HHT

Learn about the genetics and biology of Hereditary Hemorrhagic Telangiectasia (HHT). Understand HHT1, HHT2, SMAD4 mutations, inheritance, and genetic testing.

04

Visceral AVMs: How HHT Affects Your Organs

Learn how visceral AVMs from HHT affect your lungs, liver, and brain. Understand the risks, symptoms, and why proactive screening is essential for your health.

05

Treatment and Management of HHT

Learn about treatment options for Hereditary Hemorrhagic Telangiectasia (HHT). Explore therapies for nosebleeds, AVM embolization, and anemia management.

06

Building Your HHT Care Team

Learn how to build an expert HHT care team. Discover which specialists you need, how to find an HHT Center of Excellence, and what to ask your local doctor.

07

Long-Term Monitoring and Life with HHT

Learn how to manage Hereditary Hemorrhagic Telangiectasia (HHT) long-term. Discover essential surveillance schedules, safety precautions, and daily habits.

Common questions in this guide

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 to Ask Your Doctor

Curated prompts to bring to your next appointment.

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

Questions For You

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References

References (2)
  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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