Vujasinovic Miroslav, Tepes Bojan, Vujkovac Bojan, Cokan Vujkovac Andreja, Tretjak Martin, Korat Vesna
Department of Internal Medicine, Slovenj Gradec General Hospital, Gosposvetska 1, 2380, Slovenj Gradec, Slovenia.
Abakus Medico Diagnostic Centre Rogaska, Prvomajska 29A, 3250, Rogaska Slatina, Slovenia.
Wien Klin Wochenschr. 2015 Dec;127(23-24):931-4. doi: 10.1007/s00508-015-0731-9. Epub 2015 Apr 3.
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.
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.
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).
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.
法布里病（FD），又称安德森 - 法布里病，是继戈谢病之后第二常见的溶酶体贮积症。胃肠道（GI）症状在男性和女性患者中都非常常见，尽管女性患者的发病年龄较晚。据我们所知，尚未对法布里病患者的外分泌性胰腺功能不全（EPI）作为腹部不适可能原因进行研究。我们研究的目的是确定法布里病患者的外分泌胰腺功能是否受损。
我们分析了斯洛文尼亚格拉代茨综合医院法布里病中心（斯洛文尼亚法布里病转诊中心）治疗的法布里病患者的病历，评估以下特征：性别、年龄、确诊法布里病之前的首发症状、首发症状与诊断之间的时间间隔、治疗情况及当前的腹部不适症状。通过基因分析和α - 半乳糖苷酶A基因突变的确认来确立法布里病的诊断。使用酶联免疫吸附测定法和德国吉森的ScheBo Biotech商业试剂盒进行粪便弹性蛋白酶 - 1（FE - 1）测量。
本研究纳入了28例已知患有法布里病的成年患者（斯洛文尼亚人，高加索人种）：12例男性和16例女性；平均年龄45.6±14.3（范围19 - 75）岁。17例患者（63%）接受酶替代疗法（ERT）。在7例（25.9%）患者中，在开始ERT之前就存在腹部不适症状（腹泻、腹胀和饱腹感）。在这7例患者中的3例，ERT后腹部不适症状消失，4例患者仍偶尔出现这些症状。所有患者的FE - 1均正常（547.9±104.5μg/g）。
我们的结果表明，所有法布里病患者的外分泌胰腺功能正常，很可能不是该组患者腹部不适的原因。然而，由于我们所有有胃肠道问题的患者都接受了ERT治疗，所以EPI作为法布里病患者胃肠道问题的病因因素仍不能完全排除。因此，不能排除ERT对EPI的潜在影响。有必要进行进一步研究以确定病因，特别是在未接受治疗的男性患者组中。
