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

If these first-line tests do not result in a diagnosis and the patient presents with symptoms (such as splenomegaly, thrombocytopenia or growth retardation) associated with different genetic disorders, it is possible to analyze multiple genes simultaneously using Next Generation Sequencing (NGS) techniques, like a gene panel.¹

Please contact a genetic centre for more information.

Dried blood spot analysis

For enzyme testing, the Department of Medical Biochemistry, section for congenital metabolic diseases at Oslo University Hospital, Rikshospitalet can be contacted by telephone: 230 710 48 or email: post.mbk@ous-hf.no

Whole Blood Sample

The measurements are carried out at the department of Clinical Chemistry, Neurochemistry at Sahlgrenska University Hospital in Gothenburg, Sweden.
Analyslistan (vgregion.se)

Gene test

A positive enzyme test is finally confirmed with a genetic assay. The analysis is carried out at the department of Clinical Chemistry, Neurochemistry at Sahlgrenska University Hospital in Gothenburg, Sweden.
Analyslistan (vgregion.se)

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.

Mats Merup
MD. PhD
Hematologist
Stockholm

Challenges in diagnosing Gaucher and other rare diseases

LINK TO ALL THE EPISODES

Will you recognize the symptoms? Follow Juha in his journey to diagnosis

WATCH THE VIDEO

Treatment with Cerezyme

LEARN ABOUT CEREZYME FOR THE TREATMENT OF GAUCHER

Treatment with Cerdelga

LEARN ABOUT CERDELGA FOR THE TREATMENT OF GAUCHER

References

Mistry PK, Cappellini MD, Lukina E, et al. A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol. 2011;86(1):110-115.
McGovern MM, Dionisi-Vici C, Giugliani R et al. Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. Genetics in Medicine 2017;19 (9):967

MAT-NO-2400214 v1.0 05/2024