High prevalence of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia

OBJECTIVE: Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder causing mucocutaneous telangiectases and visceral arteriovenous malformations (AVMs). Pulmonary hypertension (PH) is considered an uncommon complication of HHT whose impact on the survival of these patients is currently unknown. METHODS: From January 1995 to December 2008, 29 hospitalized patients with definite HHT were included and followed until January 2011. Data on demographics, clinical symptoms and survival were recorded. PH was classified according to echocardiographic probability. RESULTS: A CT angiogram was performed in 24 of the 29 patients with HHT and AVMs were detected in 16 of them (67%): hepatic in 58%, pulmonary in 33% and spinal in 3%; 37% had both pulmonary and hepatic AVMs. Transthoracic Doppler echocardiography (TTE) was performed in 21 patients. PH was considered possible in 4 (14%) and probable in 9 (31%). The mean age at diagnosis was lower in patients with PH than in patients without PH (54±16.5 years vs 73±8.8 years, p=0.002). PH was more prevalent in patients with AVMs (56 vs. 23%, p=0.036). The mean follow-up of the entire cohort was 6±4.4 years (range: 2 months-17 years), during this time 18 patients died (62%; mean age 73±8.1 years). Patients with PH died at a younger age (68±8.4 vs. 79±2.7 years, p=0.015) than those without PH. CONCLUSIONS: PH is a severe condition that significantly reduces survival on HHT patients. PH should be suspected in all HHT patients with dyspnea and hepatic AVMs