Silent threat? A retrospective study of screening practices for pulmonary arteriovenous malformations in patients with hereditary haemorrhagic telangiectasia.

BACKGROUND

Patients with hereditary haemorrhagic telangiectasia (HHT) are at risk of pulmonary arteriovenous malformations (PAVMs) that may be complicated by stroke and brain abscess. ENT surgeons are well placed to direct patients to screening, which was recommended for all HHT patients in recently published international guidelines.

METHODOLOGY/PRINCIPAL: A retrospective study of patients with known HHT was performed based on responses to a telephone questionnaire. Epistaxis was assessed using a validated epistaxis severity scoring system.

RESULTS

123 patients responded, with ages ranging from 14-86 years (mean 57 years). 80% of patients experienced their first symptom of HHT by 30 years old. Epistaxis was assessed at time of questionnaire as mild (26 patients), moderate (52 patients) or severe (45 patients). 71 patients (57.7% of total) underwent screening for PAVMs. 30 patients (42.2% of screened individuals) reported PAVMs detected by screening. 18 patients received treatment and 12 patients were found to have PAVMs too small for treatment. The modal screening method was computed tomography (CT, 58 patients) and the majority of patients with treatable PAVMs received trans-catheter embolisation (15 patients). Only 9 patients reported being under long term follow up for PAVMs. Shortness of breath (70.0% vs 41.5%, p<0.05) and migraine (43.3% vs 24.4%, p<0.05) were more common amongst patients found to have PAVMs than those without PAVMs. There was no difference in age of onset of HHT symptoms or epistaxis severity between patients with PAVMs and those without.

CONCLUSIONS

PAVMs are common in HHT patients and carry a risk of morbidity and mortality. Safe and effective treatment exists for PAVMs although a significant minority of patients has received no screening to date. Clinicians should refer all patients for screening regardless of symptoms.