Subject: Gaucher Disease
Subject: enzyme repacement therapy
Subject: colorectal cancer
Year: 2022
Type: Article
Title: Early-onset colorectal cancer in a young woman with type 1 Gaucher disease
Author: Ridova, Nevenka
Author: Trajkova, Sanja
Author: Popova-Labachevska, Marija
Author: Stojanovska-Jakimovska, Simona
Author: Nikolov, Filip
Author: Panovska Stavridis, Irina
Abstract: 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.
Publisher: European Federation of Internal Medicine (EFIM)
Relation: European Journal of Case Reports in Internal Medicine
Identifier: oai:repository.ukim.mk:20.500.12188/23419
Identifier: Ridova N, Trajkova S, Popova-Labachevska M, Stojanovska-Jakimovska S, Nikolov F, Panovska-Stavridis I. Early-Onset Colorectal Cancer in a Young Woman with Type 1 Gaucher Disease. Eur J Case Rep Intern Med. 2022 Jun 15;9(6):003412. doi: 10.12890/2022_003412.
Identifier: http://hdl.handle.net/20.500.12188/23419Identifier: 10.12890/2022_003412
