Fabry disease and incidence of cancer #MMPMID28877708
Bird S; Hadjimichael E; Mehta A; Ramaswami U; Hughes D
Orphanet J Rare Dis 2017[]; 12 (ä): ä PMID28877708show ga
Background: Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of ?-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.
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Orphanet+J+Rare+Dis 2017 ; 12 (ä): ä
