TY - JOUR
T1 - Screening for Fabry disease in unknown origin axonal polyneuropathy
T2 - To do or not to do, this is the question!
AU - Rota, Eugenia
AU - Grandis, Marina
AU - Di Sapio, Alessia
AU - Ghiglione, Elisabetta
AU - Fiorentino, Pietro
AU - Repetto, Alessandra
AU - Giliberto, Claudia
AU - Gemelli, Chiara
AU - Morelli, Nicola
AU - Schenone, Angelo
AU - Cocito, Dario
PY - 2020/8/20
Y1 - 2020/8/20
N2 - Fabry disease (FD) is a systemic X-linked lysosomal disorder. A 'peripheral nerve variant' of FD has been hypothesized in subjects with neuropathy, without the early manifestations of the classic phenotype. A cohort of undiagnosed neuropathy patients with chronic polyneuropathy of undetermined aetiology and demyelinating neuropathy, unresponsive to immunomodulating treatment, were screened for FD. A total of 103 patients (64% males), were enrolled. No typical pathogenetic mutations for FD were identified. We are aware that the study sample was very small, but only a large, unfeasible theoretical sample size could demonstrate a statistically significant increased prevalence of FD in neuropathy patients, as peripheral neuropathy of undetermined cause is uncommon and there is a low prevalence of FD in the general population. Therefore, we are of the opinion that including tailored FD screening in the neuropathy diagnostic work-up, particularly when there are additional clinical characteristics, should be considered.
AB - Fabry disease (FD) is a systemic X-linked lysosomal disorder. A 'peripheral nerve variant' of FD has been hypothesized in subjects with neuropathy, without the early manifestations of the classic phenotype. A cohort of undiagnosed neuropathy patients with chronic polyneuropathy of undetermined aetiology and demyelinating neuropathy, unresponsive to immunomodulating treatment, were screened for FD. A total of 103 patients (64% males), were enrolled. No typical pathogenetic mutations for FD were identified. We are aware that the study sample was very small, but only a large, unfeasible theoretical sample size could demonstrate a statistically significant increased prevalence of FD in neuropathy patients, as peripheral neuropathy of undetermined cause is uncommon and there is a low prevalence of FD in the general population. Therefore, we are of the opinion that including tailored FD screening in the neuropathy diagnostic work-up, particularly when there are additional clinical characteristics, should be considered.
KW - Axonal
KW - Fabry disease
KW - Lysosomal disorder
KW - Neuropathy
KW - Polyneuropathy
KW - Screening
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U2 - 10.1186/s13023-020-01501-w
DO - 10.1186/s13023-020-01501-w
M3 - Article
C2 - 32819406
AN - SCOPUS:85089769638
VL - 15
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
SN - 1750-1172
IS - 1
M1 - 216
ER -