FAM-HAE - ACARE

FAM-HAE

Family screening Assessment and Methods in Hereditary Angioedema

Project Leads: Jane Wong, Philip Li

Steering Committee: Jane Wong (Queen Mary Hospital, Hong Kong), Philip Li (Queen Mary Hospital, Hong Kong), Dr. Ankur Jindal (Postgraduate Institute of Medical Education and Research, India), Dr. Thomas Buttgereit (Charité Berlin, Germany), Ivan Cherrez (Universidad Espiritu Santo, Ecuador), Jonny Peter (Groote Schuur Hospital, South Africa), Iman Nasr (The Royal Hospital, Oman), Rand Arnaout (King Faisal Specialist Hospital & Research Centre, Saudi Arabia), Marc Riedl (University of California San Diego, USA), Jason Fok (Monahs University, Australia), Constance Katelaris (University of Western Sydney, Australia), Daria Fomina (I.M. Sechenov First Moscow State Medical University, Russia), Saad Alshareef (King Faisal Specialist Hospital & Research Center, Saudi Arabia)

Primary Objective:

To determine real-life hereditary angioedema (HAE) family screening practices, knowledge, attitudes, and barriers from a physicians’ perspective across different countries

Secondary Objective:

To assess the association between the physicians’ willingness toward HAE family screening with:
Country and scope of practice
Physicians’ knowledge of HAE
Availability of HAE-related screening and diagnostic tests
Availability of HAE-specific treatment
Availability of HAE patient support groups
Availability of referral pathways and/or local guidelines
To compare inter-regional and -ethnic differences of the above

Background:

Hereditary angioedema is an autosomal dominant condition characterized by recurrent angioedema affecting the limbs, gut, face, and larynx. There is vast clinical heterogeneity, and even patients within the same families (sharing the same mutation) can present very differently.

Most international guidelines advocate family screening in HAE. However, recommendations are often vague and lack evidence for its effectiveness. In general, family screening for at-risk relatives is advised but recommendations vary across different countries and are largely based on expert opinion.

The optimal method for family screening has also not been described before.

This study aims to determine real-life HAE family screening practices, knowledge, attitudes, and barriers from a physicians’ perspective across different countries. We aim to explore and identify geographical differences in family screening, and associations between the physicians’ willingness toward HAE family screening with country and scope of physicians’ practice, knowledge on HAE, availability of diagnostics and treatment, patient support groups and availability of local guidelines. Additionally, the study aims to compare inter-regional and ethnic differences in the above factors.

We hope this study can provide a foundation for future research aimed at identifying strategies to overcome barriers to family screening, determining the most effective methods for family screening, and conducting a cost-effective analysis.

Methods: