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How to diagnose Gaucher disease

A definitive diagnosis of Gaucher disease is confirmed by the demonstration of a deficiency of acid β-glucosidase activity in leukocytes or fibroblasts and/or by the presence of 2 mutations in the GBA gene.1 

Another lysosomal storage disorder called ASMD (Acid Sphingomyelinase Deficiency) has several clinical manifestations in common with Gaucher disease. Therefore, it is strongly recommended to carry out simultaneous enzyme testing for acid B-glucosidase (GBA-1) and acid sphingomyelinase (ASM).2

Based on Mistry et al 20111

Spotting and diagnosing a rare disease can be difficult. Below, you have the opportunity to listen to Professor Janna Saarela, who is discussing genetic sequencing.

We’re currently able to scan the entire human genome in a single day, and the application of genetic sequencing has the potential to improve diagnosis, prognosis and treatment. Ahead lies the opportunity to easily discover rare hematological diseases that might previously have gone unnoticed or would have been hard to diagnose. We look closer at genetic sequencing and discuss its applications.

Host for the podcast is the Swedish hematologist Mats Merup. Special guest in this episode is Professor Janna Saarela. Jaana is the director of the Norwegian Centre for molecular medicine, and a researcher working to improve our understanding of the disease pathogenesis and mechanisms of human immune disorder.

Expert guest

Professor Janna Saarela
Director of the Norwegian Centre for molecular medicine, and a researcher working to improve our understanding of the disease pathogenesis and mechanisms of human immune disorder

Host

Mats Merup
MD. PhD
Hematologist
Stockholm