Division of Hematology/Oncology, Hospital for Sick Children, Toronto, ON, Canada.
Division of General and Thoracic Surgery, Hospital for Sick Children Toronto, ON, Canada.
Pediatr Transplant. 2021 Sep;25(6):e14040. doi: 10.1111/petr.14040. Epub 2021 Jun 2.
EPP is characterized by photosensitivity and by liver disease. When LT is performed in EPP, recurrence often occurs in the allograft due to ongoing protoporphyrin production in bone marrow. Therefore, curative treatment requires allogeneic HSCT after LT. Long-term immunosuppression could be spared by using the same donor for both transplants.
A 2-year-old girl with EPP in liver failure underwent liver transplant from her father. Transfusion and apheresis therapy were used to lower protoporphyrin levels before and after liver transplant. Ten weeks after liver transplant, she underwent HSCT, using the same donor. Conditioning was with treosulfan, fludarabine, cyclophosphamide, and ATG. GVHD prophylaxis was with abatacept, methotrexate, MMF, and tacrolimus. We followed the patient's erythrocyte protoporphyrin and liver and skin health for 2 years after transplant.
After hematopoietic stem cell engraftment, a decline in protoporphyrin levels was observed, with clinical resolution of photosensitivity. Liver biopsies showed no evidence of EPP. Mild ACR occurred and responded to steroid pulse. Two years post-HSCT, the patient has been weaned off all immunosuppression and remains GVHD and liver rejection free.
Sequential liver and HSCT from the same haploidentical donor are feasible in EPP. This strategy can allow for discontinuation of immune suppression.
EPP 的特征是光敏感性和肝脏疾病。在 EPP 中进行 LT 时，由于骨髓中持续产生原卟啉，移植物中常发生复发。因此，LT 后需要进行同种异体 HSCT 进行治愈性治疗。通过使用相同的供体进行两次移植，可以避免长期免疫抑制。
一名 2 岁患有肝衰竭 EPP 的女孩接受了来自父亲的肝移植。在肝移植前后，采用输血和血浆去除疗法降低原卟啉水平。肝移植后 10 周，她接受了来自同一供体的 HSCT。预处理采用三氟胸苷、氟达拉滨、环磷酰胺和 ATG。GVHD 预防采用阿巴西普、甲氨蝶呤、MMF 和他克莫司。我们在移植后 2 年内跟踪患者的红细胞原卟啉、肝脏和皮肤健康状况。
造血干细胞移植后，原卟啉水平下降，光敏感性得到临床缓解。肝活检未发现 EPP 证据。出现轻度 ACR，对类固醇脉冲治疗有反应。HSCT 后 2 年，患者已停用所有免疫抑制剂，且无 GVHD 和肝排斥反应。
EPP 患者可行来自同一半相合供体的序贯肝移植和 HSCT。这种策略可以停止免疫抑制。
