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

NCT03940014 | Completed

• 1 other identifier: PAVM
• Study Type: observational
• Target: 170
• Locations: 0 countries
• Sites: N/A

Brief Summary

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.

Conditions

Hereditary Haemorrhagic Telangiectasia; Pulmonary Arteriovenous Malformation; Cerebral Disorder

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

Pulmonary arteriovenous malformations

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

Interventions

Data collection from standard follow up OTHER

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.

Pulmonary arteriovenous malformations

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Hereditary Haemorrhagic Telangiectasia (HHT) Patients who had a molecular diagnosis and all follow-up clinical assessments available in the database.

You may qualify if:

• Hereditary Haemorrhagic Telangiectasia (HHT) diagnosis
• Pulmonary Arteriovenous Malformations (PAVMs) related with HHT

You may not qualify if:

• Clinical follow-up not available in the database

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

MeSH Terms

Conditions

Telangiectasia, Hereditary Hemorrhagic; Pulmonary Arteriovenous Fistulas

Condition Hierarchy (Ancestors)

Hemostatic Disorders; Vascular Diseases; Cardiovascular Diseases; Telangiectasis; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Vascular Malformations; Cardiovascular Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Salim Si-Mohamed, MD

  Hospices Civils de Lyon (Hôpital cardiologique Louis Pradel)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 2, 2019
• First Posted: May 7, 2019
• Study Start: January 1, 2014
• Primary Completion: March 1, 2017
• Study Completion: March 1, 2018
• Last Updated: May 7, 2019

Record last verified: 2019-05