Tumour incidence in Fabry disease: A cross-sectional study

Abstract

Background: Recently, a possible correlation between altered glycosphingolipid metabolism, that occurs in Fabry disease, and cancer development has been suggested. We analysed both incidence and prevalence of benign and malignant tumours in a Fabry patient cohort and compared them with the Italian general population. The analysis of major risk factors was performed. Methods: A total of 53 Fabry patients, followed by Nephrology Unit of San Gerardo Hospital (Monza, Italy), were retrospectively enrolled. Primary outcome was cancer development during the follow-up period (2007–2017). Cancer prevalence and incidence rate were calculated and compared to those in the Italian general population, acquired from public report on cancer estimates produced by the Cancer Registers’ Italian Association. Fisher’s exact test and multivariate analysis were performed to identify significant risk factors. Results: Nine (17%) patients were diagnosed with malignant neoplasia (stage T1–T3, N0M0). Most of them were female (77.8%) and were 59 ± 9 years old. In the benign tumour group, different lesions, ranging from adenoma to dysplasia, were recorded. Italian cancer prevalence is currently 5.5%, while in our population it was 17%; the incidence rate ratio of the Fabry population compared with the general population was 2.66 (95% confidence interval from 1.33 to 5.32). The risk factor analysis has revealed that older age was a negative factor for cancer onset, while enzyme replacement therapy had a protective role effect against cancer in Fabry patients. Conclusion: Cancer could be an important associated pathology in Fabry patients. Their altered glycosphingolipid metabolism may have an oncogenic role. Further studies are needed to clarify the relationships between Fabry disease and cancer onset. Tumours in Fabry subjects could be diagnosed at an early stage allowing patients to have a concrete chance of treatment success.