Can a patient have Hereditary Hemorrhagic Telangiectasia (HHT) without experiencing epistaxis (nosebleeds)?

Can HHT Occur Without Nosebleeds?

Yes, approximately 10% of patients with confirmed HHT do not experience epistaxis, though nosebleeds remain the most common presenting symptom in over 90% of cases. 1

Clinical Reality of HHT Without Epistaxis

While epistaxis is the hallmark symptom of HHT, its absence does not exclude the diagnosis:

• 10% of confirmed HHT patients never develop nosebleeds, demonstrating that epistaxis, while highly characteristic, is not absolutely required for the disease to be present 1
• Nosebleeds are the first symptom in 90% of HHT cases, with mucocutaneous telangiectasias typically appearing 5-20 years later, meaning early in the disease course a patient may have HHT without yet manifesting epistaxis 2
• All HHT patients become symptomatic by age 40, with 62% symptomatic by age 16, so younger patients may not yet have developed epistaxis even if they carry the genetic mutation 2

Diagnostic Approach When Epistaxis Is Absent

Apply the Curaçao criteria systematically—a definite diagnosis requires 3 of 4 criteria, meaning epistaxis can be absent if the other three criteria are present: 3, 4

1. Spontaneous and recurrent epistaxis (may be absent)
2. Multiple telangiectasias at characteristic sites (lips, oral cavity, fingers, nose, tongue, hard palate, ears) 3
3. Visceral arteriovenous malformations (pulmonary, hepatic, cerebral, spinal, or gastrointestinal) 3
4. First-degree relative with HHT diagnosed by these criteria 3, 4

Critical Screening Considerations

Patients without epistaxis but with 2+ other Curaçao criteria require the same comprehensive organ screening as those with nosebleeds:

• Screen for pulmonary AVMs using contrast echocardiography or chest CT, as these occur in up to 33% of HHT patients and can cause stroke or cerebral abscess even without epistaxis 1, 5
• Screen for cerebral AVMs with brain MRI, as these occur in up to 11% of patients and represent life-threatening complications regardless of epistaxis status 1, 5
• Perform Doppler ultrasonography for hepatic involvement in all confirmed or suspected HHT patients, though liver biopsy must never be performed due to catastrophic hemorrhage risk 3, 6

Genetic Testing Role

Genetic testing identifies causative mutations in 97% of clinically definite HHT cases (ENG, ACVRL1, SMAD4), making it particularly valuable when epistaxis is absent but other clinical features suggest HHT: 6, 7

• SMAD4 mutation carriers may lack overt HHT symptoms including epistaxis but remain at high risk for asymptomatic AVMs requiring screening 6
• Asymptomatic individuals from families with known HHT represent the strongest indication for genetic testing, allowing early screening even before epistaxis develops 6

Common Diagnostic Pitfall

The 18-year average diagnostic delay in HHT often occurs because clinicians fail to recognize the disease in patients without prominent epistaxis or dismiss isolated telangiectasias without applying Curaçao criteria: 8

• Refer patients with ≥2 Curaçao criteria to an HHT specialist or Center of Excellence for comprehensive evaluation, even if epistaxis is absent, as visceral AVMs require expert management to prevent stroke, hemorrhage, and other life-threatening complications 3, 5