Exploring Gaucher Differential Diagnosis

A lysosomal storage disorder caused by a deficiency of the enzyme glucocerebrosidase (acid β-glucosidase).1

Differential Diagnosis

Due to diagnostic delays, nearly 25% of the patients lack access to timely care.4

Guidelines recommend Dried Blood Spot test for confirming Gaucher Disease.5

To watch the inspiring story of Deepesh, click on the link:

A deep dive into Infantile-Onset Pompe Disease – A devastating
Lysosomal Storage Disorder with an alarmingly high mortality rate,
claiming innocent lives before their first birthday.

Abbreviations:
ALL: Acute lymphocytic leukemia; ASMD: Acid sphingomyelinase deficiency; CML: Chronic myeloid leukemia; GD: Gaucher disease; HCL: Hairy cell leukemia; HL: Hodgkin
lymphoma; NHL: Non-Hodgkin lymphoma.

References:
1. Chan LL, Lin HP. Enzyme replacement therapy for Gaucher Disease: The only experience in Malaysia. Med J Malaysia. 2002;57(3):348–352 2. McGovern MM, Avetisyan
R, Sanson BJ, et al. Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD). Orphanet J Rare Dis. 2017;12(1):41. 3.
Wasserstein MP, Jones SA, Soran H, et al. Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. Mol Genet Metab.
2015;116(1-2):88–97 4. Mistry PK, Cappellini MD, Lukina E,
al. A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol. 2011;86(1):110–115 5. Puri RD, Kapoor S, Kishnani PS et al.
Diagnosis and management of Gaucher disease in India – Consensus guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics
and the Indian Academy of Pediatrics.

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