Impact of Pulmonary Arteriovenous Malformations on Respiratory–Related Quality of Life in Patients with Hereditary Haemorrhagic Telangiectasia

Abstract

Fifteen to fifty percent of patients with hereditary haemorrhagic telangiectasia have pulmonary arteriovenous malformations. The objective of this study was to measure the effect of the presence of pulmonary arteriovenous malformations and of their embolisation on respiratory-related quality of life (QoL). We prospectively recruited patients with a diagnosis of hereditary haemorrhagic telangiectasia based on the Curaçao criteria and/or the identification of a pathogenic mutation. Respiratory-related quality of life was measured using the Saint George’s Respiratory Questionnaire (SGRQ). Patients who underwent embolisation of pulmonary arteriovenous malformations completed the questionnaire before and 6–12 mo after the procedure. The 56 participants were divided into three groups: no pulmonary arteriovenous malformation (group A, n = 10), small pulmonary arteriovenous malformations not accessible to embolotherapy (group B, n = 19), and large pulmonary arteriovenous malformations accessible to embolotherapy (group C, n = 27). The SGRQ score was significantly higher in group C compared to the other groups, indicating a worse respiratory-specific QoL. There was no significant difference between groups A and B. Among the 17 patients who underwent an embolisation, the SGRQ score decreased significantly after the procedure, to a value similar to that in patients without pulmonary arteriovenous malformation. Our results indicate that the presence of large but not small pulmonary arteriovenous malformations negatively affects the respiratory-related quality of life and that embolisation of pulmonary arteriovenous malformations normalizes the respiratory-related quality of life.

Orthotopic Liver Transplantation for Hereditary Hemorrhagic Telangiectasia and MEN Type I Syndrome - Case Report and Review of Literature

“…This procedure is efficient and durable in 83% of patients (49). Embolization is recommended in patients with HHT whenever PAVMs accessible to the procedure are found, even in asymptomatic patients (50), especially when the diameter of the feeding vessel is > 3 mm. A majority of centres treat PAVMs with a feeding artery < 3 mm.…”

Hereditary haemorrhagic telangiectasia

“…Pulmonary AVMs (PAVMs) occur in 15 -50% of patients with HHT, but up to 85% of those with HHT1 (39)(40)(41) . Whilst sporadic PAVMs do occur, 90% of all PAVMs occur in the context of HHT so an incidental finding should prompt screening for HHT (42) .…”

“…Right to left shunting of deoxygenated blood may cause hypoxaemia and dyspnoea, with significant effects on quality of life (40) . The fragile vessels may also rupture causing potentially life-threatening haemoptysis or haematemesis, the risk of which is increased in pregnancy (45) .…”

Hemoptisis en un niño con malformación arteriovenosa cervical y pulmonar. Caso clínico

“…7,13 Las MAV pulmonares pueden ser esporádicas u ocurrir en asociación con la THH o síndrome de Rendu-Osler-Weber, desorden hereditario autosómico dominante caracterizado por la presencia de telangiectasias en piel y mucosas y MAV viscerales (el 15-36% de los pacientes con THH tienen afectación pulmonar). 2,14,15 Su diagnóstico requiere, al menos, dos de las siguientes manifestaciones: telangiectasias de mucosas, epistaxis recurrente, antecedentes familiares del trastorno o MAV viscerales. El diagnóstico es difícil en los niños, debido a que las manifestaciones clínicas no están presentes al nacer, sino que se desarrollan con la edad.…”

“…2 El tratamiento de elección de la MAV es la embolización percutánea. 8,10,14 Sus indicaciones son la prevención de la embolización paradójica y las posibles secuelas neurológicas, la prevención de hemorragias y el tratamiento de los síntomas derivados del cortocircuito derecho-izquierdo. 3,7 Consiste en la oclusión de la arteria aferente (única o múltiple) con el fin de excluir la comunicación arteriovenosa patológica.…”