25-9-2024

ERN GENTURIS guideline on Birt-Hogg-Dubé syndrome diagnosis, surveillance and management

Marianne Geilswijk, MD is a consultant in Clinical genetics at the Department of Clinical Genetics at Aarhus University Hospital in Denmark. Her clinical work is focused on cancer predisposition and genetic counselling with a special interest in hereditary renal cancer, including Birt-Hogg-Dubé syndrome. Aarhus University Hospital has established a multidisciplinary team on diagnosis and surveillance in BHD syndrome. This has led to increased awareness of this not so rare cancer predisposition syndrome in our area and in the Central Denmark Region as a whole.

In this webinar I will introduce the ERN GENTURIS guideline on BHD syndrome which has been composed in collaboration with colleagues across the EU and UK. Birt-Hogg-Dubé syndrome is an autosomal dominant multisystem disorder with cancer predisposition and marked phenotypical heterogeneity. Based on a comprehensive literature review and pan-European expert consensus across all relevant medical specialties as well as patient representative contribution, the ERN GENTURIS BHD syndrome guideline group presents updated recommendations for diagnosis, surveillance and management in Birt-Hogg-Dubé syndrome. With this guideline we wish to provide geneticists and clinicians with a standard of care and to raise awareness of Birt-Hogg-Dubé syndrome.