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.
Highlights
Hereditary haemorrhagic telangiectasia (HHT), known as Rendu-Osler-Weber syndrome, is a genetic vascular disorder with an autosomal dominant inheritance pattern
Since pulmonary arteriovenous malformations (PAVMs) have a substantial clinical impact on patients with HHT, we focused on the impact of PAVMs on quality of life (QoL) in patients with HHT and evaluated the effect of embolisation of PAVMs on QoL
Mutations in ENG were identified in 31 patients (55%), mutations in activinreceptor-like kinase 1 (ACVRL1) were identified in 17 patients (30%), and one patient had a mutation in SMAD4 and presented with juvenile polyposis
Summary
Hereditary haemorrhagic telangiectasia (HHT), known as Rendu-Osler-Weber syndrome, is a genetic vascular disorder with an autosomal dominant inheritance pattern. The clinical manifestations of HHT include epistaxis; telangiectasia on the skin and mucosal membrane; and visceral arteriovenous malformations (AVMs), predominantly in the lung, brain, gastrointestinal tract, and liver. Mutations in three genes have been found to be responsible for HHT: the endoglin (ENG) gene on chromosome 9, the activinreceptor-like kinase 1 (ACVRL1) gene on chromosome 12, and the SMAD4 gene on chromosome 18 (mutations lead to juvenile polyposis). The phenotypic expression of the disease depends on the mutated gene: for instance, patients with ENG mutations (‘‘HHT1 phenotype’’) are more likely to have pulmonary arteriovenous malformations (PAVMs) than patients with ACVRL1 mutations (‘‘HHT2 phenotype’’). A diagnosis of HHT is established based on the Curacao criteria (nose bleeds, mucocutaneous telangiectasia, visceral arteriovenous malformations, and family history) or on the identification of a pathogenic mutation [2,4]
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