Endo Yutaka, Hibi Taizo, Shinoda Masahiro, Obara Hideaki, Kitago Minoru, Yagi Hiroshi, Abe Yuta, Hasegawa Yasushi, Matsubara Kentaro, Hori Shutaro, Tanaka Masayuki, Makiuchi Satomi, Nakano Yutaka, Itano Osamu, Kuroda Tatsuo, Kitagawa Yuko
Department of Surgery, Keio University School of Medicine, Tokyo, Japan.
Department of Pediatric Surgery and Transplantation, Kumamoto University School of Medicine, Kumamoto, Japan.
Pediatr Transplant. 2022 Jun;26(4):e14261. doi: 10.1111/petr.14261. Epub 2022 Feb 28.
Erythropoietic protoporphyria (EPP) is a rare inherited disorder that causes the accumulation of protoporphyrin in the erythrocytes, skin, and liver. Severe protoporphyric hepatopathy results in liver failure, requiring both liver and bone marrow transplantation as a life-saving procedure and to correct the underlying enzymatic defect, respectively.
We report a 20-year-old man who underwent split liver transplantation using a right trisegment and caudate lobe graft for EPP-induced liver failure, but succumbed to a deadly combination of early relapse of EPP and subsequent, intractable, late-onset bile leakage from the cut surface of segment 4. EPP recurrence most likely created a high-risk situation for bile leakage from the non-communicating bile ducts of segment 4; therefore, this case shed light on the potential relationship between EPP recurrence and biliary complications.
Physicians should recognize the potentially rapid and life-threatening progression of protoporphyric hepatopathy that leads to liver failure. For young patients with EPP, LT and sequential BMT should thoroughly be considered by a multidisciplinary team as soon as hepatic reserve deterioration becomes evident. Split liver transplantation should preferably be avoided and appropriate post-transplant management is critical before protoporphyrin depositions to the bile duct and hepatocyte causes irreversible damage to the liver graft.
红细胞生成性原卟啉病（EPP）是一种罕见的遗传性疾病，可导致原卟啉在红细胞、皮肤和肝脏中蓄积。严重的原卟啉性肝病会导致肝功能衰竭，分别需要进行肝移植和骨髓移植来挽救生命并纠正潜在的酶缺陷。
我们报告了一名20岁男性，他因EPP引起的肝功能衰竭接受了使用右三叶和尾状叶移植物的劈离式肝移植，但最终死于EPP早期复发和随后难以治疗的4段切面迟发性胆汁漏的致命组合。EPP复发很可能为4段非交通性胆管胆汁漏创造了高危情况；因此，该病例揭示了EPP复发与胆道并发症之间的潜在关系。
医生应认识到原卟啉性肝病导致肝功能衰竭的潜在快速且危及生命的进展。对于患有EPP的年轻患者，一旦肝储备恶化明显，多学科团队应尽早全面考虑肝移植和序贯骨髓移植。应尽量避免劈离式肝移植，在原卟啉沉积到胆管和肝细胞对肝移植物造成不可逆转的损害之前，适当的移植后管理至关重要。
