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Epistaxis in hereditary haemorrhagic telangiectasia
T Haitjema1, W Balder, F J Disch
1Department of Pulmonology, Sint Antonius Hospital, Nieuwegein, The Netherlands.
Rhinology
|September 1, 1996
Summary
Hereditary haemorrhagic telangiectasia (HHT) often causes frequent nosebleeds (epistaxis) and can involve dangerous arteriovenous malformations (AVMs). Early screening for AVMs is crucial for HHT patients, especially those seeing an otorhinolaryngologist.
Area of Science:
- Medical Genetics
- Otorhinolaryngology
- Vascular Medicine
Background:
- Hereditary haemorrhagic telangiectasia (HHT) is a genetic disorder characterized by mucocutaneous telangiectases and a propensity for bleeding.
- Epistaxis is the most prevalent symptom, but visceral arteriovenous malformations (AVMs) in the lungs, brain, and liver pose significant risks.
Purpose of the Study:
- To investigate the specific characteristics of epistaxis in patients with Hereditary haemorrhagic telangiectasia (HHT).
- To assess the diagnostic accuracy and clinical management of epistaxis in HHT patients presenting to otorhinolaryngologists.
Main Methods:
- A cohort of 171 individuals, including 58 diagnosed with HHT and relatives in a screening program, were studied.
- Clinical data on epistaxis, physical examination findings of telangiectases, and prior medical consultations were collected and analyzed.
Main Results:
- Epistaxis was common in HHT patients, but 10% did not experience it. Some patients had epistaxis without diagnosed HHT.
- Telangiectases were frequently observed on the lips, tongue, nasal septum, and turbinates.
- A notable number of HHT patients with epistaxis had not received an accurate HHT diagnosis from prior otorhinolaryngology visits.
Conclusions:
- Epistaxis is a key symptom of HHT, but its absence does not rule out the condition.
- Otorhinolaryngologists should maintain a high index of suspicion for HHT in patients with characteristic telangiectases and epistaxis.
- Given the risk of visceral AVMs, HHT patients presenting with epistaxis should be referred for AVM screening.