How do I know if I have Hereditary Hemorrhagic Telangiectasia?

TL;DR: Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is typically identified through a clinical assessment of chronic nosebleeds, small red skin spots called telangiectasias, and a family history of similar symptoms. If you suspect you have HHT, you should consult a specialist—ideally at an HHT Center of Excellence—to review your symptoms against the Curaçao diagnostic criteria.

What are the early signs and symptoms of Hereditary Hemorrhagic Telangiectasia?

Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder that affects blood vessel formation, often leading to fragile vessels that bleed easily. The most common early sign is recurrent, spontaneous nosebleeds (epistaxis) that often begin in childhood or adolescence. Another hallmark is the appearance of telangiectasias—small, red-to-purple, spider-like spots—typically found on the lips, tongue, fingertips, or inside the nose. Because HHT involves systemic vascular issues, some individuals may also experience iron-deficiency anemia due to chronic, invisible blood loss within the gastrointestinal tract.

How can I perform a self-assessment for Hereditary Hemorrhagic Telangiectasia?

When evaluating your own health for signs of Hereditary Hemorrhagic Telangiectasia, look for patterns rather than isolated incidents. Ask yourself if your nosebleeds are frequent, difficult to stop, and occur without clear triggers like trauma or dry air. Examine your skin and mucous membranes for non-blanching red spots that do not fade when pressed. Most importantly, consider your family tree: does a parent, sibling, or child share these symptoms? Because HHT is inherited in an autosomal dominant pattern, there is a 50% chance of passing the condition to offspring, making family history a critical piece of the puzzle.

When should I see a doctor and what tests are used?

If you suspect you have Hereditary Hemorrhagic Telangiectasia, it is vital to speak with a physician who is familiar with rare vascular disorders. When scheduling your appointment, be prepared to present a detailed log of your nosebleed frequency and duration. To confirm a diagnosis, doctors often use the Curaçao criteria, which include:

• Spontaneous and recurrent nosebleeds (epistaxis).


• Multiple telangiectasias on characteristic sites (lips, mouth, fingers, nose).


• Evidence of visceral lesions (arteriovenous malformations in the lungs, liver, or brain).


• A first-degree relative with a confirmed diagnosis of HHT.

Diagnostic testing may involve screening for these visceral malformations using bubble echocardiography, MRI, or CT scans. Genetic testing is also available to identify mutations in genes such as ENG, ACVRL1, or SMAD4.

What are the red flags requiring urgent care?

While many symptoms of Hereditary Hemorrhagic Telangiectasia are manageable, some signs require immediate medical attention. Seek emergency care if you experience sudden, severe headaches, seizures, signs of a stroke, or shortness of breath, as these can indicate that an arteriovenous malformation (AVM) in the brain or lungs has become symptomatic. Additionally, if you feel extreme fatigue, dizziness, or notice black, tarry stools, you may be experiencing significant internal blood loss requiring urgent stabilization.

How do I advocate for myself if my concerns are dismissed?

If your primary care provider is unfamiliar with Hereditary Hemorrhagic Telangiectasia, it is perfectly acceptable to seek a second opinion. You can advocate for yourself by bringing literature from reputable sources like the HHT Foundation to your appointment. Our community at DiseaseMaps.org currently includes 141 people living with HHT; connecting with these individuals can provide you with the resources and confidence needed to navigate the healthcare system effectively. Always emphasize the "hereditary" aspect of your concerns, as this often prompts clinicians to take a more thorough family history.

Next steps

• Keep a detailed diary of your nosebleeds and any other symptoms for at least one month.


• Request a referral to a hematologist or a specialist at an HHT Center of Excellence.


• Join the DiseaseMaps.org community to share experiences with others managing Hereditary Hemorrhagic Telangiectasia.


• Ask your family members if they have experienced similar symptoms, as this is crucial for clinical diagnosis.

Medical disclaimer: This content is for informational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Hereditary Hemorrhagic Telangiectasia.


• Orphanet: Rare Disease Database (ORPHA: 774).


• Curaçao Scientific Committee: Diagnostic Criteria for HHT.


• Cure HHT (HHT Foundation International): Patient Education Resources.