caa a22 4500 606240314 CHVBK 20210128101307.0 cr unu---uuuuu 210128e20151201xx s 000 0 eng 10.1007/s00508-015-0731-9 doi (NATIONALLICENCE)springer-10.1007/s00508-015-0731-9 Exocrine pancreatic insufficiency is not a cause of abdominal complaints in patients with Fabry disease [Elektronische Daten] [Miroslav Vujasinovic, Bojan Tepes, Bojan Vujkovac, Andreja Cokan Vujkovac, Martin Tretjak, Vesna Korat] Summary: Background: Fabry disease (FD), also called Anderson-Fabry disease, is the second most prevalent lysosomal storage disorder after Gaucher disease. Gastrointestinal (GI) symptoms are very common among male and female individuals, although the age of onset is later among female patients. To our best knowledge, exocrine pancreatic insufficiency (EPI) has not yet been studied in patients with FD as a possible cause of abdominal complaints. The aim of our study was to determine whether exocrine pancreatic function is impaired in patients with FD. Patients and methods: We analysed medical records of patients with FD treated in Fabry Center in Slovenj Gradec General Hospital (Slovenian referral centre for FD) by the evaluation of the following features: gender, age, first symptoms before confirmation of FD diagnosis, time interval between first symptoms and diagnosis, therapy and current abdominal complaints. Diagnosis of FD was established by genetic analysis and confirmation of mutation in the α-galactosidase A gene. Faecal elastase-1 (FE-1) measurements were performed using enzyme-linked immunosorbent assay and the commercial kit ScheBo Biotech, Giessen, Germany. Results: There were 28 adult patients (Slovene, Caucasians) with known FD included in the study: 12 male and 16 female; mean age, 45.6 ± 14.3 (range, 19-75) years. Seventeen patients (63 %) were on enzyme replacement therapy (ERT). In seven (25.9 %) patients, abdominal complaints (diarrhoea, bloating and feeling of satiety) were present before introduction of ERT. In three out of these seven patients, abdominal complaints resolved after ERT, and in four patients, they were still occasionally present. FE-1 was normal in all patients (547.9 ± 104.5µg/g). Conclusions: Our results show that exocrine pancreatic function is normal in all patients with FD and is most likely not a cause of abdominal complaints in this group of patients. Nevertheless, EPI still could not be completely excluded as an aetiology factor for GI problems in patients with FD because all our patients with GI problems were treated with ERT. Therefore, a potential effect of ERT on EPI cannot be excluded. Further studies are necessary to determine the aetiology, especially in the group of naïve male patients. Springer-Verlag Wien, 2015 Fabry disease nationallicence Disease nationallicence Exocrine nationallicence Pancreatic nationallicence Insufficiency nationallicence Abdominal complaints nationallicence Vujasinovic Miroslav Department of Internal Medicine, Slovenj Gradec General Hospital, Gosposvetska 1, 2380, Slovenj Gradec, Slovenia aut Tepes Bojan Abakus Medico Diagnostic Centre Rogaska, Prvomajska 29A, 3250, Rogaska Slatina, Slovenia aut Vujkovac Bojan Department of Internal Medicine, Slovenj Gradec General Hospital, Gosposvetska 1, 2380, Slovenj Gradec, Slovenia aut Cokan Vujkovac Andreja Department of Internal Medicine, Slovenj Gradec General Hospital, Gosposvetska 1, 2380, Slovenj Gradec, Slovenia aut Tretjak Martin Department of Internal Medicine, Slovenj Gradec General Hospital, Gosposvetska 1, 2380, Slovenj Gradec, Slovenia aut Korat Vesna Department of Internal Medicine, Slovenj Gradec General Hospital, Gosposvetska 1, 2380, Slovenj Gradec, Slovenia aut Wiener klinische Wochenschrift Springer Vienna 127/23-24(2015-12-01), 931-934 0043-5325 127:23-24<931 2015 127 508 https://doi.org/10.1007/s00508-015-0731-9 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s00508-015-0731-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Vujasinovic Miroslav Department of Internal Medicine, Slovenj Gradec General Hospital, Gosposvetska 1, 2380, Slovenj Gradec, Slovenia aut NATIONALLICENCE 700 1- Tepes Bojan Abakus Medico Diagnostic Centre Rogaska, Prvomajska 29A, 3250, Rogaska Slatina, Slovenia aut NATIONALLICENCE 700 1- Vujkovac Bojan Department of Internal Medicine, Slovenj Gradec General Hospital, Gosposvetska 1, 2380, Slovenj Gradec, Slovenia aut NATIONALLICENCE 700 1- Cokan Vujkovac Andreja Department of Internal Medicine, Slovenj Gradec General Hospital, Gosposvetska 1, 2380, Slovenj Gradec, Slovenia aut NATIONALLICENCE 700 1- Tretjak Martin Department of Internal Medicine, Slovenj Gradec General Hospital, Gosposvetska 1, 2380, Slovenj Gradec, Slovenia aut NATIONALLICENCE 700 1- Korat Vesna Department of Internal Medicine, Slovenj Gradec General Hospital, Gosposvetska 1, 2380, Slovenj Gradec, Slovenia aut NATIONALLICENCE 773 0- Wiener klinische Wochenschrift Springer Vienna 127/23-24(2015-12-01), 931-934 0043-5325 127:23-24<931 2015 127 508