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Understanding Your HHT Diagnosis

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Hereditary Hemorrhagic Telangiectasia (HHT) is a rare genetic disorder diagnosed using the Curaçao criteria, which includes recurrent nosebleeds, visible skin spots (telangiectasias), internal AVMs, and a family history. With proper screening and specialized care, HHT is highly manageable.

Key Takeaways

  • • HHT is a rare genetic disorder that causes abnormal connections between arteries and veins, leading to fragile blood vessels.
  • • Doctors diagnose HHT using the Curaçao criteria, which looks for recurrent nosebleeds, skin spots, internal AVMs, and family history.
  • • A diagnosis is considered definite if a patient meets at least three of the four Curaçao criteria.
  • • Proactive screening of internal organs is essential to identify and monitor AVMs before they cause serious complications.
  • • With proactive monitoring and care at specialized centers, most people with HHT can live a normal lifespan.

Receiving a diagnosis of Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, can feel overwhelming. It is a rare genetic disorder that affects how blood vessels form throughout the body [1][2]. Because it is rare—affecting roughly 1 in 5,000 to 10,000 people globally—it is common for patients to feel confused or even dismissed by doctors who may not be familiar with the condition [3][4].

The journey to an HHT diagnosis is often a long “diagnostic odyssey,” sometimes taking up to 20 years from the time symptoms first appear [4][1]. If you feel frustrated or anxious about this delay, know that these feelings are a normal response to navigating a complex and often misunderstood disease [5][4].

Three Stabilizing Facts

While HHT is a lifelong condition, it is important to ground yourself in these three facts:

  1. HHT is manageable: With proper screening and specialized care, most people with HHT can live a normal lifespan [6][1].
  2. You are not alone: Although rare, there is a global community of patients and specialized Centers of Excellence dedicated to HHT research and care [1][7].
  3. Proactive screening saves lives: Identifying internal issues before they cause symptoms is the most effective way to prevent serious complications [8][9].

How HHT is Diagnosed: The Curaçao Criteria

Doctors use a standard set of four signs, called the Curaçao criteria, to determine if a person has HHT. A diagnosis is considered “definite” if you meet at least three of these four criteria [10][11]:

  • Recurrent Nosebleeds (Epistaxis): Spontaneous, repeated nosebleeds that have happened over a long period [10][12].
  • Telangiectasias: Small, visible red or purple spots on the skin or mucous membranes, typically found on the lips, tongue, face, or fingertips [10][12].
  • Internal AVMs: The presence of Arteriovenous Malformations (AVMs)—abnormal connections between arteries and veins—in internal organs like the lungs, brain, liver, or GI tract [10][13].
  • Family History: Having a first-degree relative (parent, sibling, or child) who has already been diagnosed with HHT [10][11].

Understanding Your Blood Vessels

In a healthy body, arteries (which carry oxygen-rich blood) connect to veins through a network of tiny vessels called capillaries. In HHT, some of these connections skip the capillaries entirely. This creates a “short circuit” or shunt [13][14].

When these abnormal connections are small and near the surface, they are called telangiectasias; when they are larger and inside organs, they are called AVMs [14][13]. Because these abnormal vessels are fragile, they can leak or bleed, which is why regular screening and a multidisciplinary care team are essential for long-term health [1][8].

Frequently Asked Questions

How do doctors diagnose HHT?
HHT is diagnosed using the Curaçao criteria. A doctor will look for recurrent nosebleeds, visible red spots called telangiectasias, internal arteriovenous malformations (AVMs), and a family history of the condition. Meeting three of these four signs results in a definite diagnosis.
What are the first signs and symptoms of HHT?
The most common early signs of HHT are recurrent, spontaneous nosebleeds and the appearance of small red or purple spots on the lips, tongue, face, or fingertips. Because it is a rare disease, it can sometimes take years for these symptoms to be formally recognized as HHT.
What is an AVM in HHT?
An arteriovenous malformation (AVM) is an abnormal connection between an artery and a vein that skips the normal capillary network. In HHT, these fragile connections can form in internal organs like the lungs, brain, or liver, and require screening because they can leak or bleed.
Should my family members be tested for HHT?
Because HHT is a genetic disorder, having a first-degree relative with the condition is a key diagnostic criteria. If you are diagnosed, you should discuss an appropriate screening plan for your children, parents, and siblings with your healthcare provider.
Is HHT a life-threatening condition?
While HHT is a lifelong condition that requires medical attention, it is highly manageable. With regular, proactive screening to monitor internal organs and care from specialized HHT centers, most people with the condition live a normal lifespan.

Questions for Your Doctor

  • • Based on the Curaçao criteria, which specific signs led to my HHT diagnosis?
  • • Do you have experience treating HHT, or can you refer me to an HHT Center of Excellence?
  • • What is the next step for screening my internal organs (lungs, brain, liver) for AVMs?
  • • How should we screen my children or other close relatives for HHT?
  • • What is the best way to manage my nosebleeds in the short term to prevent anemia?

Questions for You

  • • How long did it take from my first symptoms (like nosebleeds) until I received this diagnosis, and how has that wait affected my trust in the medical process?
  • • Which symptoms—like frequent nosebleeds, skin spots, or fatigue—am I currently experiencing most often?
  • • Are there family members who have similar symptoms but haven't been formally diagnosed yet?
  • • What are my biggest fears or concerns about living with a rare condition?

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References

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    [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

    Rendú Osler Weber Syndrome; case report.

    García Córdova OM, Pérez Morales TC, Barón Hernández VADP, Cuéllar JSS

    Radiology case reports 2022; (17(9)):3025-3030 doi:10.1016/j.radcr.2022.05.088.

    PMID: 35755112
  3. 3

    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
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    Hereditary Hemorrhagic Telangiectasia (Osler's Disease): Systemic, Interdisciplinary, Relatively Common—and Often Missed.

    Geisthoff UW, Mahnken AH, Denzer UW, et al.

    Deutsches Arzteblatt international 2024; (121(18)):601-607.

    PMID: 39158362
  5. 5

    Epistaxis Prevention, Treatment, and Future Perspectives for Hereditary Hemorrhagic Telangiectasia.

    Ficany A, Del Alamo M, Bernabeu C, et al.

    Journal of clinical medicine 2025; (14(21)) doi:10.3390/jcm14217724.

    PMID: 41227119
  6. 6

    [Hereditary hemorrhagic telangiectasia].

    Parrot A, Barral M, Amiot X, et al.

    Revue des maladies respiratoires 2023; (40(5)):391-405 doi:10.1016/j.rmr.2023.02.007.

    PMID: 37062633
  7. 7

    Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) Part I. Pathophysiology, clinical symptoms and recommend screening for vascular malformations.

    Adam Z, Brančiková D, Romanová G, et al.

    Vnitrni lekarstvi 2021; (67(6)):339-344.

    PMID: 35459376
  8. 8

    Pulmonary arteriovenous malformation in a pediatric patient with epistaxis and hypoxemia.

    England RW, Weiss CR

    Radiology case reports 2020; (15(10)):1759-1763 doi:10.1016/j.radcr.2020.07.026.

    PMID: 32774576
  9. 9

    Hereditary hemorrhagic telangiectasia.

    Chung MG

    Handbook of clinical neurology 2015; (132()):185-97.

    PMID: 26564080
  10. 10

    Hereditary Hemorrhagic Telangiectasia: A Rare Cause of Anemia.

    Jan W, Tameez Ud Din A, Chaudhary FMD, et al.

    Cureus 2019; (11(8)):e5349 doi:10.7759/cureus.5349.

    PMID: 31602353
  11. 11

    Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective.

    Kritharis A, Al-Samkari H, Kuter DJ

    Haematologica 2018; (103(9)):1433-1443 doi:10.3324/haematol.2018.193003.

    PMID: 29794143
  12. 12

    Hereditary haemorrhagic telangiectasia in skin of colour: a dermoscopic, histopathological and radiological approach.

    Singh S, Choudhary S, Srivastava A, et al.

    BMJ case reports 2025; (18(5)) doi:10.1136/bcr-2025-265940.

    PMID: 40441746
  13. 13

    Hereditary hemorrhagic telangiectasia of liver: Pathophysiology with role of radiology in diagnosis and treatment.

    Viyannan M, Balalakshmoji D, Leelakrishnan V

    The Indian journal of radiology & imaging 2020; (30(1)):98-101 doi:10.4103/ijri.IJRI_367_19.

    PMID: 32476760
  14. 14

    A CASE OF REFRACTORY IRON DEFICIENCY ANEMIA REVEALING HEREDITARY HEMORRHAGIC TELANGIECTASIA.

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    Georgian medical news 2025; 6-11.

    PMID: 41511116

This page provides educational information about HHT diagnosis and the Curaçao criteria. It does not replace professional medical advice, diagnosis, or treatment from an HHT specialist.

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