Hepatology DivisionDepartment of Upper GI Diseases Porphyria Centre SwedenKarolinska Institutet and Karolinska University Hospital Stockholm Sweden Department of Clinical Science, Intervention and Technology (CLINTEC) Karolinska Institutet and Karolinska University Hospital Stockholm Sweden Paul Brousse Hospital University Paris-SudInserm U935 Villejuif France The Queen Elizabeth University Hospital Birmingham UK Centre Francais des Porphyries Hôpital Louis MourierAssistance Publique-Hôpitaux de Paris Paris France Department of General Internal Medicine Universitair Ziekenhuis (UZ) Leuven Leuven Belgium Section for GastroenterologyNorwegian Primary Sclerosing Cholangitis (PSC) Research CenterDepartment of Transplantation MedicineResearch Institute of Internal MedicineDivision of SurgeryInflammatory Diseases and TransplantationOslo University Hospital RikshospitaletHybrid Technology Hub-Centre of ExcellenceInstitute of Basic Medical SciencesInstitute of Clinical MedicineFaculty of Medicine University of Oslo Oslo Norway Department of Nephrology, Dialysis and Internal Diseases Medical University of Warsaw Warsaw Poland Liver Center MunichDepartment of Medicine II University HospitalLudwig Maximilian University (LMU) Munich Munich Germany Liver Transplant UnitHospital Clínic de BarcelonaInstitut d'Investigacions Biomèdiques August Pi i SunyerCentro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas Universitat de Barcelona Barcelona Spain Institute of Sanitary and Biomedical Investigation of Alicante Alicante Spain Department of Visceral Transplant Surgery University Medical Center Hamburg-Eppendorf Hamburg Germany Erasmus MCUniversity Medical Center RotterdamPorphyria Center Rotterdam Rotterdam The Netherlands Department of Medical and Surgical Sciences for Children and Adults University of Modena and Reggio EmiliaUnit of Internal MedicinePoliclinico Hospital of Modena Modena Italy Department of Transplantation and Liver Surgery Helsinki University Hospital Helsinki Finland Liver Transplant Unit, Edouard Herriot Hospital Lyon France Department of General, Visceral, Thoracic, Transplantation and Pediatric Surgery Universitätsklinikum Schleswig-Holstein (UKSH) Campus Kiel Kiel Germany Department of Visceral Surgery and Medicine Inselspital University Hospital of Bern Bern Switzerland The Liver Unit Addenbrooke's HospitalCambridge University Hospitals Cambridge UK.
Liver Transpl. 2021 Apr;27(4):491-501. doi: 10.1002/lt.25959. Epub 2021 Jan 29.
Recurrent attacks of acute intermittent porphyria (AIP) result in poor quality of life and significant risks of morbidity and mortality. Liver transplantation (LT) offers a cure, but published data on outcomes after LT are limited. We assessed the pretransplant characteristics, complications, and outcomes for patients with AIP who received a transplant. Data were collected retrospectively from the European Liver Transplant Registry and from questionnaires sent to identified transplant and porphyria centers. We studied 38 patients who received transplants in 12 countries from 2002 to 2019. Median age at LT was 37 years (range, 18-58), and 34 (89%) of the patients were women. A total of 9 patients died during follow-up, and 2 patients were retransplanted. The 1-year and 5-year overall survival rates were 92% and 82%, which are comparable with other metabolic diseases transplanted during the same period. Advanced pretransplant neurological impairment was associated with increased mortality. The 5-year survival rate was 94% among 19 patients with moderate or no neuropathy at LT and 83% among 10 patients with severe neuropathy (P = 0.04). Pretransplant renal impairment was common. A total of 19 (51%) patients had a GFR < 60 mL/minute. Although few patients improved their renal function after LT, neurological impairments improved, and no worsening of neurological symptoms was recorded. No patient had AIP attacks after LT, except for a patient who received an auxiliary graft. LT is a curative treatment option for patients with recurrent attacks of AIP. Severe neuropathy and impaired renal function are common and increase the risk for poor outcomes. If other treatment options fail, an evaluation for LT should be performed early.
反复发作的急性间歇性血卟啉症 (AIP) 导致生活质量下降，且存在较高的发病率和死亡率风险。肝移植 (LT) 可根治该病，但发表的 LT 后结局数据有限。我们评估了接受移植的 AIP 患者的移植前特征、并发症和结局。数据从欧洲肝移植登记处和向已确定的移植和卟啉症中心发送的调查问卷中回顾性收集。我们研究了 2002 年至 2019 年期间在 12 个国家接受移植的 38 名患者。LT 时的中位年龄为 37 岁（范围 18-58 岁），34 名（89%）患者为女性。随访期间共有 9 名患者死亡，2 名患者再次接受移植。1 年和 5 年总生存率分别为 92%和 82%，与同期接受移植的其他代谢性疾病相当。移植前晚期神经损伤与死亡率增加相关。LT 时中重度或无神经病变的 19 名患者 5 年生存率为 94%，而 10 名严重神经病变患者的 5 年生存率为 83%（P=0.04）。移植前肾功能不全常见。共有 19 名（51%）患者的肾小球滤过率（GFR）＜60mL/min。尽管LT 后很少有患者的肾功能改善，但神经功能障碍得到改善，且未记录到神经症状恶化。除了一名接受辅助移植物的患者外，其余患者在 LT 后均未发生 AIP 发作。LT 是治疗反复发作性 AIP 的一种有治愈潜力的治疗选择。严重的神经病变和肾功能不全很常见，会增加不良结局的风险。如果其他治疗选择失败，应尽早评估 LT。
