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. 2017 Sep 6;12(1):150.
doi: 10.1186/s13023-017-0701-6.

Fabry disease and incidence of cancer

Sarah Bird  1 , Efthymios Hadjimichael  2 , Atul Mehta  1 , Uma Ramaswami  1 , Derralynn Hughes  3
Affiliations

Fabry disease and incidence of cancer

Sarah Bird et al. Orphanet J Rare Dis. .

Abstract

Background: Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including globotriaosylsphingosine (Lyso-Gb3). Increased cellular and plasma levels of Gb3 and Lyso-Gb3 affect multiple organs, with specific clinical consequences for the kidneys, heart and brain. There is growing evidence that alterations in glycosphingolipids may have an oncogenic role and this prompted a review of cases of cancer and benign lesions in a large single centre cohort of Fabry patients. We also explored whether there is a difference in the risk of cancer in Fabry patients compared to the general population.

Results: Our results suggest that Fabry patients may have a marginally reduced rate of all cancer (incidence rate ratio 0.61, 95% confidence interval 0.37 to 0.99) but possibly increased rates of melanoma, urological malignancies and meningiomas.

Conclusion: Greater knowledge and awareness of cancer in patients with Fabry disease may help identify at-risk individuals and elucidate cancer mechanisms in this rare inherited disease, which may potentially be relevant to the wider cancer population.

Keywords: Cancer: CNS; Cancer: Dermatological; Cancer: Urological; Fabry disease; Genetics; Haematology; Lysosomal storage disorders.

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Conflict of interest statement

Ethics approval and consent to participate

Ethics approval was gained from the Health Research Authority, North East-Tyne and Wear South Research Ethics Committee. Consent was gained from all patients.

Consent for publication

Consent was gained from all patients.

Competing interests

All authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

References

    1. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5(1):30. doi: 10.1186/1750-1172-5-30. - DOI - PMC - PubMed
    1. Deegan PB, Baehner AF, Romero MÁ, Hughes DA, Kampmann C, Beck M. Natural history of Fabry disease in females in the Fabry outcome survey. J Med Genet. 2006;43(4):347–352. doi: 10.1136/jmg.2005.036327. - DOI - PMC - PubMed
    1. Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, Jabbour F, Beldjord C, De Mazancourt P, Germain DP. X-chromosome inactivation in female patients with Fabry disease. Clin Genet. 2016;89(1):44–54. doi: 10.1111/cge.12613. - DOI - PubMed
    1. Elstein D, Schachamorov E, Beeri R, Altarescu G. X-inactivation in Fabry disease. Gene. 2012;505(2):266–268. doi: 10.1016/j.gene.2012.06.013. - DOI - PubMed
    1. Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, Ottenhoff R, van Roomen C, Mirzaian M, Wijburg FA, Linthorst GE, Vedder AC, Rombach SM, Cox-Brinkman J, Somerharju P, Boot RG, Hollak CE, Brady RO, Poorthuis BJ. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Ntl Acad Sci. 2008;105(8):2812–2817. doi: 10.1073/pnas.0712309105. - DOI - PMC - PubMed

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