Pulmonary fibrosis is a progressive, fatal manifestation of Hermansky-Pudlak syndrome (HPS). Some patients with advanced HPS pulmonary fibrosis undergo lung transplantation despite their disease-associated bleeding tendency; others die while awaiting donor organs. The objective of this study is to determine the clinical management and outcomes of a cohort with advanced HPS pulmonary fibrosis who were evaluated for lung transplantation. Six patients with HPS-1 pulmonary fibrosis were evaluated at the National Institutes of Health Clinical Center and one of two regional lung transplant centers. Their median age was 41.5 years pre-transplant. Three of six patients died without receiving a lung transplant. One of these was referred with end-stage pulmonary fibrosis and died before a donor organ became available, and donor organs were not identified for two other patients sensitized from prior blood product transfusions. Three of six patients received bilateral lung transplants; they did not have a history of excessive bleeding. One patient received peri-operative desmopressin, one was transfused with intra-operative platelets, and one received extracorporeal membrane oxygenation and intra-operative prothrombin complex concentrate, platelet transfusion, and desmopressin. One transplant recipient experienced acute rejection that responded to pulsed steroids. No evidence of chronic lung allograft dysfunction or recurrence of HPS pulmonary fibrosis was detected up to 6 years post-transplant in these three lung transplant recipients. In conclusion, lung transplantation and extracorporeal membrane oxygenation are viable options for patients with HPS pulmonary fibrosis. Alloimmunization in HPS patients is an important and potentially preventable barrier to lung transplantation; interventions to limit alloimmunization should be implemented in HPS patients at risk of pulmonary fibrosis to optimize their candidacy for future lung transplants.

肺纤维化是赫曼斯基-普德拉克综合征（HPS）的一种进行性，致命性表现。一些患有晚期HPS肺纤维化的患者尽管有与疾病相关的出血倾向，但仍需进行肺移植。其他人则在等待捐赠器官时死亡。这项研究的目的是确定接受肺移植评估的晚期HPS肺纤维化队列的临床管理和结果。美国国立卫生研究院临床中心和两个地区肺移植中心之一对6例HPS-1肺纤维化患者进行了评估。他们的中位年龄是移植前的41.5岁。六分之三的患者未接受肺移植手术而死亡。其中之一被称为末期肺纤维化，并在供体器官变得可用之前死亡，尚未从先前输血的产品致敏的另外两名患者中鉴定出供体器官和供体器官。6例患者中有3例接受了双侧肺移植。他们没有过多出血的病史。一名患者接受围手术期去氨加压素治疗，一名患者接受术中血小板输注，一名患者接受体外膜氧合和术中凝血酶原复合物浓缩液，血小板输注和去氨加压素治疗。一位移植受者经历了对脉冲类固醇的急性排斥反应。在这三名肺移植受者中，直到移植后长达6年，都没有发现慢性肺同种异体移植功能障碍或HPS肺纤维化复发的证据。综上所述，对于HPS肺纤维化患者，肺移植和体外膜氧合是可行的选择。HPS患者的同种免疫是肺移植的重要且可能是可预防的障碍。应在有肺纤维化风险的HPS患者中实施限制同种免疫的干预措施，以优化其对未来肺移植的候选资格。