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2025, Number 1

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Rev Hematol Mex 2025; 26 (1)

Gaucher's disease

Flores GS, Romero AF, Luna SAL, Vacio MPA, Cabrales GR, Flores CSA

Language: Spanish
References: 17
Page: 1-7
PDF size: 722.51 Kb.


ABSTRACT

BACKGROUND: Gaucher’s disease is a rare lysosomal disorder characterized by cytopenias, hepatosplenomegaly, bone abnormalities, and growth delay. Diagnosis is confirmed through enzymatic and genetic testing showing β-glucocerebrosidase deficiency and GBA gene mutations. Enzyme replacement therapy is the treatment of choice.
CLINICAL CASE: A 7-year-old female patient with a history of epistaxis, thrombocytopenia, and visceromegaly. Bone marrow biopsy revealed cells compatible with a lysosomal storage disorder. Gaucher’s disease was confirmed by enzymatic deficiency, elevated liso-Gb1 levels, and biallelic pathogenic variants in the GBA gene.
CONCLUSIONS: Gaucher’s disease is frequently underdiagnosed. Early clinical recognition is essential, especially in pediatric patients with unexplained thrombocytopenia and hypersplenism. Prompt diagnosis and treatment improve prognosis and quality of life.


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