Cancer Risk in Patients with Gaucher Disease Using Real-World Data

Shoshana Revel-Vilk*, Ari Zimran, Majdolen Istaiti, Liat Azani, Varda Shalev, Gabriel Chodick, Orly Manor, Ora Paltiel

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


The association between GD and cancer has been uncertain due to ascertainment bias in previously published studies. We analyzed cancer incidence using the Maccabi Healthcare Service (MHS) electronic health records among 264 patients with GD compared to 3440 matched controls. We ascertained cancers diagnosed before and after the index date (i.e., the first documentation of GD in cases and the corresponding date for controls). Before the index date, cancers were diagnosed in 18 individuals, with 11 (4.2%) in the GD group and 7 (0.2%) in the control group. After the index date, cancers were diagnosed in 57 individuals, with 20 (7.9%) in the GD group and 37 (1.1%) in the control group, with a median follow-up of almost 13 years in both groups. The most common cancers diagnosed in GD were non-melanoma skin cancer (NMSC) and hematological malignancies, with a clustering of diagnoses around the time of GD diagnosis. The incidence of cancers (excluding MNSC) was 4.1 (95% CI 2.2–7.1) and 0.7 (95% CI 0.4–0.9) per 1000 patient-years in the GD and control groups, respectively, with an incidence rate ratio of 6.37 (95% CI 3–12.7). Patients with GD underwent more cancer screening tests than their counterparts in the control group. While our study revealed an increased occurrence of cancers in patients with GD, this finding might be partly attributed to the more rigorous surveillance procedures employed in this patient population.

Original languageAmerican English
Article number7707
JournalJournal of Clinical Medicine
Issue number24
StatePublished - 15 Dec 2023

Bibliographical note

Publisher Copyright:
© 2023 by the authors.


  • Gaucher disease
  • cancer
  • real-life data
  • screening bias
  • surveillance bias


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