Pulmonary Arteriovenous Malformations (PAVMs) in Hereditary Haemorrhagic Telangiectasia (HHT)

Study Overview
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Brief Summary
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Computed tomography (CT) is the modality of choice to characterize pulmonary arteriovenous malformations (PAVMs) in patients with hereditary haemorrhagic telangiectasia (HHT). The objective of this study was to determine if CT findings were associated with frequency of brain abscess and ischaemic stroke. This retrospective study included patients with HHT-related PAVMs. CT results, PAVM presentation (unique, multiple, disseminated or diffuse), the number of PAVMs and the largest feeding artery size, were correlated to prevalence of ischaemic stroke and brain abscess.

Official Title
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Pulmonary Arteriovenous Malformations (PAVMs) in Hereditary Haemorrhagic Telangiectasia (HHT): Correlations Between Computed Tomography Findings and Cerebral Complications

Conditions
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Hereditary Haemorrhagic Telangiectasia, Pulmonary Arteriovenous Malformation, Cerebral Disorder

Intervention / Treatment
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* Other: Data collection from standard follow up


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Hereditary Haemorrhagic Telangiectasia (HHT) diagnosis Pulmonary Arteriovenous Malformations (PAVMs) related with HHT Exclusion Criteria: Clinical follow-up not available in the database
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Pulmonary arteriovenous malformations<br>Patients with hereditary haemorrhagic telangiectasia (HHT)-related Pulmonary Arteriovenous Malformations (PAVMs). For all patients, the final diagnosis of certain HHT the diagnosis can be made depending on the presence of four criteria known as the Curaçao criteria: 1) Spontaneous recurrent epistaxis 2) Multiple telangiectasias in typical locations 3) Proven visceral Arteriovenous Malformations (AVM) (lung, liver, brain, spine) 4) First-degree family member with HHT. If conditions three or four are met, a patient has definite HHT, while condition two is considered as possible HHT. All patients had a molecular diagnosis and all follow-up clinical assessments were available in the database. | Other: Data collection from standard follow up<br>* Annual clinical consultation with an Hereditary Haemorrhagic Telangiectasia (HHT) specialist and/or pneumologist and organ specialists when necessary (such as hepatologists, cardiologists and neurologists). Explorations (contrast echography, chest Computed Tomography and treatments performed according to international guidelines. TransCatheter Embolotherapy for each treatable Pulmonary Arteriovenous Malformations (PAVMs) and follow-up every 3 years. Chest Computed Tomography (CT) every 6-12 months.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Yearly change in chest Computed Tomography (CT) results in patients with Hereditary Haemorrhagic Telangiectasia (HHT). | The presence of pulmonary arteriovenous malformations (PAVMs) (unique, multiple, disseminated or diffuse, the number of PAVMs and the largest feeding artery size) upon examination by CT could be correlated to the frequency of brain abscess and ischemic stroke in patients with hereditary haemorrhagic telangiectasia (HHT). These patients underwent a yearly CT scan to check for PAVM presence. | Every year for 10 years |