This podcast series was organised and funded by Sanofi Genzyme UK and Ireland.

The Look, See, Differentiate:

Lysosomal Storage Disorders podcast series

This podcast series is intended for healthcare professionals in the UK and Ireland. It explores the diagnostic pathway for patients with lysosomal storage disorders. Across the two series, experts will discuss the signs, symptoms, and differential diagnosis of Gaucher and Fabry disease and share the common obstacles which can lead to delayed or misdiagnosis. This podcast series has been developed and funded by Sanofi. The experts featured in each episode were paid an honorarium by Sanofi for their participation.

MAT-IE-2100533(v2.0), November 2021. Copyright© 2021 Sanofi. All rights reserved.

Gaucher Disease Speaker Introduction

Professor Atul Mehta

Haematology

Retired

Professor Atul Mehta was Consultant Haematologist and Professor of Haematology at the Royal Free London and University College London Hospitals NHS Foundation Trusts.

He ran the general laboratory haematology diagnostic service at the Royal Free Hospital until his retirement in January 2019. Professor Mehta was also the Founder and Director of the Lysosomal Storage Disorders (LSDs) Centre at the Royal Free Hospital, which grew to be the largest centre in the UK and one of the foremost clinical academic centres for LSDs in the world.

He now works in private practice, charitable, educational and research roles, including consultancy.

Dr Richard Soutar

Haematology

The Beatson West of Scotland Cancer Centre, Glasgow

Dr Richard Soutar is Consultant in Haematology and Transfusion Medicine at The Beatson West of Scotland Cancer Centre, NHS Greater Glasgow and Clyde Health Board and the Scottish National Blood Transfusion Service. He is an Honorary Clinical Senior Lecturer at the University of Glasgow and has interests in multiple myeloma, related plasma cell dyscrasias, hospital-based transfusion medicine and general haematology including Gaucher disease.

Episode 1

LOOK: Signs and symptoms of Gaucher disease

What are the main signs and symptoms of Gaucher disease, and why is it so important that haematologists are aware of these symptoms? Tune in to hear more, as we take you on a journey using case-based discussion, to explore the haematological-specific flags seen in patients with Gaucher disease.

Date of preparation: August 2021

MAT-GB-2101435(v1.0)

Episode 2

SEE: Gaucher disease diagnostic pathway: the right referral and timely tests

Right place, Right time. Tune in to hear about the importance of patients ‘SEE’ing the right specialists at the right time, and uncover the significant role of the haematologist in performing the key clinical tests to diagnose Gaucher disease.

Date of preparation: August 2021

MAT-GB-2101437(v1.0)

Episode 3

DIFFERENTIATE: Differential diagnosis of Gaucher disease

How do we know it’s Gaucher disease? Tune in as we discuss how to ‘DIFFERENTIATE’ Gaucher disease from similar diseases. This podcast explores common misdiagnoses, the importance of biochemistry in diagnosis, and initiatives that can help non‐specialists identify ‘at‐risk’ patients.

Date of preparation: August 2021

MAT-GB-2101438(v1.0)

Fabry Disease Speaker Introduction

Professor John Sayer

Nephrology

Freeman Hospital, The Newcastle upon Tyne Hospitals NHS Foundation Trust

Professor John Sayer is Professor of Renal Medicine at Newcastle University and Consultant Nephrologist at the Renal Services Centre, Freeman Hospital. His clinical interests include renal stone disease and a wide range of inherited kidney disorders, including, but not limited to, Fabry disease. His laboratory studies focus on renal genetics, cystic kidney disease, renal ciliopathies and renal stone formation.

Professor Sayer runs both a regional and family clinic for renal genetics. He also leads several national renal rare disease working groups.

Dr Michael Clarkson

Nephrology

Cork University Hospital

Dr Clarkson is Consultant Nephrologist at Cork University Hospital and Vice Dean of Research and Innovation at the College of Medicine and Health at University College Cork.

His research interests include the immunobiology of transplant rejection and small vessel vasculitis, while his clinical subspecialty interests include transplantation medicine, antineutrophil cytoplasmic antibody-associated vasculitis and the management of Fabry disease.

Episode 4

LOOK: Signs and symptoms of Fabry disease

What are the main signs and symptoms of Fabry disease, and why is it so important that nephrologists are aware of these signs? Tune in as we take a closer ‘LOOK’ at the signs and symptoms of Fabry disease through case-based discussion, with a particular focus on the kidney-specific red flags seen in patients with Fabry disease

Date of preparation: August 2021

MAT-GB-2101440(v1.0)

Episode 5

SEE: Fabry disease diagnostic pathway: the right referral and timely tests

Right place, right time. Tune in as we discuss the importance of patients ‘SEE’ing the right specialists at the right time, and the key role of the nephrologist in the journey to diagnosis of a patient with Fabry disease. Through a case-based discussion, we also highlight the importance of interpreting test results with caution.

Date of preparation: August 2021

MAT-GB-2101441(v1.0)

Episode 6

DIFFERENTIATE: Differential diagnosis of Fabry disease

How do we know it’s Fabry disease? In this final episode, we explore how to ‘DIFFERENTIATE’ Fabry disease from similar diseases, including an overview of the potential consequences of a delayed diagnosis, insight into the common misdiagnoses, and the importance of genetic testing in differential diagnosis.

Date of preparation: August 2021

MAT-GB-2101442(v1.0)