Incidence of Spontaneous Pulmonary AVM Rupture in HHT Patients.

Adam Fish,Katharine Henderson,Jeffrey Pollak,Alex Moushey,Todd Schlachter

doi:10.3390/jcm10204714

Abstract

The spontaneous rupture of pulmonary AVMs, resulting in pulmonary hemorrhage and hydrothorax, is a life-threatening complication. While this phenomenon has been previously reported, the true incidence is not yet known. This study retrospectively reviewed records of 801 HHT patients with pulmonary AVMs to identify a single lifetime episode of hemothorax or pulmonary hemorrhage secondary to pulmonary AVM rupture. The lifetime prevalence and incidence of pulmonary AVM rupture in HHT patients was 2.7% and 0.16% respectively. In these patients, AVM rupture represented the initial presentation of HHT in nine (40.9%) cases and was life-threatening in nine (40.9%) cases. All cases occurred in virgin lesions, and subsequent embolization was curative. While a feared complication, pulmonary AVM rupture is rare and is likely effectively prevented by existing embolization techniques and indications.

Highlights

Incidence of Spontaneous PulmonaryHereditary hemorrhagic telangiectasia (HHT), known as Rendu-Osler-Weber disease, is an autosomal dominant condition with an estimated prevalence of 1 in 5000, manifesting in mucosal telangiectasia and visceral telangiectasia and arteriovenous malformations [1,2,3]
1971 patients were diagnosed with known HHT and 339 patients with possible HHT according to the Curacao criteria [16] or by genetic testing
Records of the 2310 patients with known or possible HHT were reviewed for the presence of pulmonary AVMs

Summary

Introduction

Hereditary hemorrhagic telangiectasia (HHT), known as Rendu-Osler-Weber disease, is an autosomal dominant condition with an estimated prevalence of 1 in 5000, manifesting in mucosal telangiectasia and visceral telangiectasia and arteriovenous malformations [1,2,3]. Pulmonary arteriovenous malformations (PAVMs) are a feared manifestation of HHT. The familial form of PAVM is far more common than the sporadic form, with approximately 80–90% of patients with PAVM eventually displaying these lesions as part of the HHT-related clinical spectrum [11,12]. One of the most common and feared complications of PAVM includes paradoxical emboli, occurring in up to 30% of patients, which may result in stroke and brain abscess and, less commonly, systemic abscess [13]. Rupture, and high cardiac output, leading to heart failure and pulmonary hypertension [14]

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