Exocrine pancreatic insufficiency is not a cause of abdominal complaints in patients with Fabry disease.
Wien Klin Wochenschr
; 127(23-24): 931-4, 2015 Dec.
Article
en En
| MEDLINE
| ID: mdl-25835592
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. PATIENTS ANDMETHODS:
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Contexto en salud:
3_ND
Problema de salud:
3_diarrhea
/
3_neglected_diseases
Asunto principal:
Insuficiencia Pancreática Exocrina
/
Dolor Abdominal
/
Enfermedad de Fabry
/
Diarrea
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Risk_factors_studies
Límite:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Wien Klin Wochenschr
Año:
2015
Tipo del documento:
Article
País de afiliación:
Eslovenia