Advertisement

Wiener klinische Wochenschrift

, Volume 127, Issue 23–24, pp 931–934 | Cite as

Exocrine pancreatic insufficiency is not a cause of abdominal complaints in patients with Fabry disease

  • Miroslav Vujasinovic
  • Bojan Tepes
  • Bojan Vujkovac
  • Andreja Cokan Vujkovac
  • Martin Tretjak
  • Vesna Korat
original article

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 ± 104.5 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.

Keywords

Fabry disease Disease Exocrine Pancreatic Insufficiency Abdominal complaints 

References

  1. 1.
    Bassotti G, Bellini M, Pucciani F, Pucciani F, Bocchini R, Bove A, et al. An extended assessment of bowel habits in a general population. World J Gastroenterol. 2004;10:713–6.CrossRefPubMedGoogle Scholar
  2. 2.
    Behhary S, Ellis L, Corey M, Marcon M, Durie P. How useful is fecal pancreatic elastase 1 as a marker of exocrine pancreatic disease? J Pediatr. 2002;141:84–90.CrossRefGoogle Scholar
  3. 3.
    Chang L, Toner BB, Fukudo S, Guthrie E, Locke GR, Norton NJ, et al. Gender, age, society, culture, and he patient’s perspective in the functional gastrointestinal disorders. Gastroenterology. 2006;130:1435–46.CrossRefPubMedGoogle Scholar
  4. 4.
    Dehout F, Roland D, Treille de Granseigne S, Guillaume B, Van Maldergem L. Relief of gastrointestinal symptoms under enzyme replacement therapy in patients with Fabry disease. J Inherit Metab Dis. 2004;27:499–505.CrossRefPubMedGoogle Scholar
  5. 5.
    Domínguez-Munoz JE, Hieronymus C, Sauerbruch T, Malfertheiner P. Fecal elastase test: evaluation of a new noninvasive pancreatic function test. Am J Gastroenterol. 1995;90:1834–7.PubMedGoogle Scholar
  6. 6.
    Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006;8:539–48.CrossRefPubMedGoogle Scholar
  7. 7.
    Flynn DM, Lake BD, Boothgy CB, Young EP. Gut lesions in Fabry’s disease without a rash. Arch Dis Child. 1972;47:26–33.PubMedCentralCrossRefPubMedGoogle Scholar
  8. 8.
    Friedman LS, Kirkham SE, Thistlethwaite JR, Platika D, Kolodny EH, Schuffler MD. Jejunal diverticulosis with perforation as a complication of Fabry’s disease. Gastroenterology. 1984;86:558–63.PubMedGoogle Scholar
  9. 9.
    Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.PubMedCentralCrossRefPubMedGoogle Scholar
  10. 10.
    Gullo L, Ventrucci M, Tomassetti P, Migliori M, Pezzili R. Fecal elastase 1 determination in chronic pancreatitis. Dig Dis Sci. 1999;44:210–3.CrossRefPubMedGoogle Scholar
  11. 11.
    Hoffmann B, Schwarz M, Mehta A, Keshav S, Fabry Outcome Survey European Investigators. Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin Gastroenterol Hepatol. 2007;5:1447–53.CrossRefPubMedGoogle Scholar
  12. 12.
    Houge G, Skarbøvik AJ. Fabry disease—a diagnostic and therapeutic challenge. Tidsskr Nor Laegeforen. 2005;125:1004–6.PubMedGoogle Scholar
  13. 13.
    Jack CIA, Morris AI, Nasmyth DG, Carroll N. Colonic involvement in Fabry’s disease. Postgrad Med J. 1991;67:584–5.PubMedCentralCrossRefPubMedGoogle Scholar
  14. 14.
    Leeds JS, Hopper AD, Hurlstone DP, Edwards SJ, McAlindon ME, Lobo AJ, et al. Is exocrine pancreatic insufficiency in adult coeliac disease a cause of persisting symptoms? Aliment Pharmacol Ther. 2007;25:265–71.CrossRefPubMedGoogle Scholar
  15. 15.
    Löhr JM. Exocrine pancreatic insufficiency. 2nd ed. Bremen: UNI-MED; 2010.Google Scholar
  16. 16.
    Löser C, Möllgaard, Fölsch UR. Faecal elastase 1: a novel, highly sensitive and specific tubeless pancreatic function test. Gut. 1996;39:580–6.PubMedCentralCrossRefPubMedGoogle Scholar
  17. 17.
    MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet. 2001;38:750–60.PubMedCentralCrossRefPubMedGoogle Scholar
  18. 18.
    Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281(3):249–54.CrossRefPubMedGoogle Scholar
  19. 19.
    O’Brien BD, Shnitka TK, McDougall R, Walker K, Costopoulos L, Lentle B, et al. Pathophysiologic and ultrastructural basis for intestinal symptoms in Fabry’s disease. Gastroenterology. 1982;82:957–62.PubMedGoogle Scholar
  20. 20.
    Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999;105:151–6.CrossRefPubMedGoogle Scholar
  21. 21.
    Rowe JW, Gilliam JI, Warthin TA. Intestinal manifestations of Fabry’s disease. Ann Intern Med. 1974;81:628–31.CrossRefPubMedGoogle Scholar
  22. 22.
    Sheth KJ, Werlin SL, Freeman ME, Hodach AE. Gastrointestinal structure and function in Fabry’s disease. Am J Gastroenterol. 1981;76:246–51.PubMedGoogle Scholar
  23. 23.
    Toouli J, Biankin AV, Oliver MR, Pearce CB, Wilson JS, Wray NH. Australasian Pancreatic Club recommendations. Med J Aust. 2010;193:461–7.PubMedGoogle Scholar
  24. 24.
    Tümer L, Ezgü FS, Hasanoğlu A, Dalgiç B, Bakkaloğlu SA, Memiş L, et al. The co- existence of Fabry and celiac disease: a case report. Pediatr Nephrol. 2004;19:679–81.CrossRefPubMedGoogle Scholar
  25. 25.
    Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry registry. Mol Genet Metab. 2007;93:112–28.CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Wien 2015

Authors and Affiliations

  • Miroslav Vujasinovic
    • 1
  • Bojan Tepes
    • 2
  • Bojan Vujkovac
    • 1
  • Andreja Cokan Vujkovac
    • 1
  • Martin Tretjak
    • 1
  • Vesna Korat
    • 1
  1. 1.Department of Internal MedicineSlovenj Gradec General HospitalSlovenj GradecSlovenia
  2. 2.Abakus Medico Diagnostic Centre RogaskaRogaska SlatinaSlovenia

Personalised recommendations