RESUMO
Introduction: Gaucher disease (GD) is a rare inherited lysosomal storage disease characterized by multi-system impairment. One of its main features is the over-expressed chronic stimulation and activation of the immune system, which may play a crucial role in the development of some malignancies associated with GD. Case description: We describe a young woman diagnosed with GD type 1 in early adulthood who developed early-onset colorectal cancer shortly after GD diagnosis and the initiation of enzyme replacement therapy. She underwent radical surgical resection of the colon and adjuvant chemotherapy due to metastatic disease in the liver. She failed first-line therapy with capecitabine and is currently being treated with irinotecan plus the monoclonal antibody cetuximab. Discussion: Although there is no evidence of an association between GD and colorectal cancer, this presentation in a young woman without a family history or risk factors may indicate a link. During anticancer treatment, only grade 3 anaemia was documented and no other haematological toxicities were observed. Enzyme replacement therapy at the recommended dose is regularly administered at scheduled intervals. The dosage may be increased in future if necessary to alleviate profound cytopenia. Conclusion: Anticancer treatment in patients with GD can be challenging due to the accompanying cytopenia. Optimal treatment of these patients with cancer requires greater understanding of the pathophysiology of GD and its impact on haematopoiesis. LEARNING POINTS: There may be a correlation between the hyperinflammatory background of untreated Gaucher disease and the development of neoplasia.Gaucher disease has rarely been described in association with colorectal cancer.Gaucher disease can be further worsened by chemotherapeutic agents.
