title: Exocrine pancreatic insufficiency is not a cause of abdominal complaints in patients with Fabry disease.
abstract: 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.
  
  
  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 ± 104.5 µg/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.
authors.affiliation: Department of Internal Medicine, Slovenj Gradec General Hospital, Gosposvetska 1, 2380, Slovenj Gradec, Slovenia. mvujas@gmail.com.
authors.forename: Miroslav
authors.initials: M
authors.lastname: Vujasinovic
authors.affiliation: Abakus Medico Diagnostic Centre Rogaska, Prvomajska 29A, 3250, Rogaska Slatina, Slovenia.
authors.forename: Bojan
authors.initials: B
authors.lastname: Tepes
authors.affiliation: Department of Internal Medicine, Slovenj Gradec General Hospital, Gosposvetska 1, 2380, Slovenj Gradec, Slovenia.
authors.forename: Bojan
authors.initials: B
authors.lastname: Vujkovac
authors.affiliation: Department of Internal Medicine, Slovenj Gradec General Hospital, Gosposvetska 1, 2380, Slovenj Gradec, Slovenia.
authors.forename: Andreja
authors.initials: A
authors.lastname: Cokan Vujkovac
authors.affiliation: Department of Internal Medicine, Slovenj Gradec General Hospital, Gosposvetska 1, 2380, Slovenj Gradec, Slovenia.
authors.forename: Martin
authors.initials: M
authors.lastname: Tretjak
authors.affiliation: Department of Internal Medicine, Slovenj Gradec General Hospital, Gosposvetska 1, 2380, Slovenj Gradec, Slovenia.
authors.forename: Vesna
authors.initials: V
authors.lastname: Korat
mesh_terms: D015746:Abdominal Pain / Q000175:diagnosis / Q000209:etiology*; D000328:Adult; D000368:Aged; D003967:Diarrhea / Q000175:diagnosis / Q000209:etiology*; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications* / Q000175:diagnosis*; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D012307:Risk Factors; D055815:Young Adult
keywords: Abdominal complaints; Disease; Exocrine; Fabry disease; Insufficiency; Pancreatic
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