Background

Fabry disease is an inherited disorder of glycolipid metabolism with progressive involvement of multiple organs, including the gastrointestinal tract, in classically affected male patients. Clinical presentations in males with later-onset Fabry phenotypes are more heterogeneous and largely dependent on the level of residual α-galactosidase A activity.

Methods

We assessed agalsidase beta treatment outcomes of gastrointestinal symptoms in adult males with classic or later-onset Fabry disease. Self-reports of abdominal pain and diarrhea (‘present’/’not present’ since previous assessment) at last clinical visit (≥0.5 year of follow-up) were compared with treatment-baseline.

Results

Classic male patients were considerably younger at first treatment than the fewer males with later-onset phenotypes (36 vs. ~47 years) and reported gastrointestinal symptoms more frequently at baseline (abdominal pain: 56% vs. 13%; diarrhea: 57% vs. 23%). As compared with baseline, significantly fewer classic patients reported abdominal pain after a median of 4.7 years of treatment (N = 171, 56% vs. 41%, P < 0.001). Moreover, significantly fewer patients reported diarrhea after 5.5 years of follow-up (N = 169, 57% vs. 47%, P < 0.05). Among the males with later-onset phenotypes, albeit statistically non-significant, abdominal pain reports reduced after a median of 4.2 years (N = 48, 13% vs. 4%) and diarrhea reports reduced after a median of 4.4 years of treatment (N = 47, 23% vs. 13%).

Conclusions

Sustained treatment with agalsidase beta was associated with improvement in abdominal pain and diarrhea in a significant proportion of classic male Fabry patients. Males with later-onset phenotypes reported gastrointestinal symptoms much less frequently at baseline as compared with classic patients, and non-significant reductions were observed.

中文翻译：

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用阿加糖酶β治疗的大部分患有经典法布里病的男性患者的胃肠道症状得到改善：按表型分层的法布里登记分析

背景

法布里病是一种遗传性糖脂代谢疾病，在典型受累的男性患者中，包括胃肠道在内的多个器官进行性受累。具有迟发性法布里表型的男性的临床表现更加异质，主要取决于残留的 α-半乳糖苷酶 A 活性水平。

方法

我们评估了患有经典或迟发性法布里病的成年男性胃肠道症状的阿加糖酶β治疗结果。将最后一次临床就诊（≥0.5 年随访）时腹痛和腹泻的自我报告（自先前评估以来“存在”/“不存在”）与治疗基线进行比较。

结果

经典男性患者在首次治疗时比具有迟发表型的较少男性患者年轻得多（36 岁 vs. 约 47 岁），并且在基线时更频繁地报告胃肠道症状（腹痛：56% vs. 13%；腹泻：57% vs. . 23%). 与基线相比，中位治疗 4.7 年后出现腹痛的典型患者显着减少（N  = 171, 56% vs. 41%, P  < 0.001）。此外，随访 5.5 年后报告腹泻的患者显着减少（N  = 169, 57% vs. 47%, P  < 0.05）。在具有迟发表型的男性中，尽管在统计学上不显着，但腹痛报告在中位 4.2 年后减少（N = 48, 13% vs. 4%)，中位治疗 4.4 年后腹泻报告减少 ( N  = 47, 23% vs. 13%)。

结论

在相当大比例的经典男性法布里患者中，持续使用阿加糖酶 β 治疗与腹痛和腹泻的改善有关。与经典患者相比，具有迟发表型的男性在基线时报告胃肠道症状的频率要低得多，并且观察到非显着减少。