Department of Oncology, Hospitalist Medicine, St. Jude Children's Research Hospital, Memphis, TN, USA.
Department of Bone Marrow Transplantation and Cellular Therapy, St. Jude Children's Research Hospital, Memphis, TN, USA.
Pediatr Transplant. 2021 Sep;25(6):e13966. doi: 10.1111/petr.13966. Epub 2021 Jan 6.
EPP is a rare disorder of heme biosynthesis in which patients present with disabling photosensitivity. A subset of patients develop severe liver disease with progressive liver failure necessitating an OLT. A HCT can potentially cure EPP by replacing the native bone marrow, which is the primary site of heme synthesis. However, due to concerns for inherent risks of treatment-related toxicities, the use of HCT has been reserved for patients undergoing an OLT to avoid disease recurrence in the hepatic graft. Data for HCT in EPP are lacking, particularly in the pediatric population.
CASE (METHODS/RESULTS): We present the case of a 12-year-old patient with EPP photosensitivity and cirrhosis, whom we successfully treated with pre-emptive allogeneic HCT, significantly improving the patient's quality of life. We used a matched-unrelated donor bone marrow-derived graft. Our patient achieved full donor peripheral blood chimerism and has not had any evidence of GVHD. In addition to resolution of photosensitivity, our patient had reversal of liver fibrosis which we feel was largely due to intervention at an early stage of compensated cirrhosis.
Our case highlights the successful application of a known RIC regimen to this rare disorder that was well tolerated with sustained donor engraftment. It also emphasizes the importance of timing for HCT in patients with EPP and liver fibrosis. HCT should be considered early in pediatric patients with EPP-hepatopathy to prevent progression to liver failure and need for OLT with lifelong immunosuppression.
EPP 是一种罕见的血红素生物合成障碍，患者表现为致残性光敏感性。一部分患者会发展为严重的肝脏疾病，伴有进行性肝功能衰竭，需要进行 OLT。HCT 可通过替代主要的血红素合成部位——骨髓，从而有潜力治愈 EPP。然而，由于担心与治疗相关的毒性固有风险，HCT 的使用一直保留给正在接受 OLT 的患者，以避免肝移植后疾病复发。EPP 患者的 HCT 数据缺乏，尤其是儿科人群。
病例（方法/结果）：我们报告了一例 12 岁 EPP 光敏感性和肝硬化患者的病例，我们通过抢先异体 HCT 成功治疗了该患者，显著改善了患者的生活质量。我们使用了匹配的非亲缘供体骨髓衍生移植物。我们的患者实现了完全供体外周血嵌合体，并且没有出现 GVHD 的证据。除了光敏感性的缓解外，我们的患者还逆转了肝纤维化，我们认为这在很大程度上是由于在代偿性肝硬化的早期阶段进行了干预。
我们的病例强调了一种已知的 RIC 方案在这种罕见疾病中的成功应用，该方案具有良好的耐受性，并且持续供体植入。它还强调了 EPP 和肝纤维化患者进行 HCT 的时机的重要性。对于患有 EPP-肝病史的儿科患者，应尽早考虑进行 HCT，以防止进展为肝功能衰竭和需要进行 OLT 并终身接受免疫抑制治疗。
