Hermansky-Pudlak Syndrome and Lung Transplantation: A Single Center Case Series

Abstract

<h3>Introduction</h3> Hermansky-Pudlak Syndrome (HPS) is a rare, autosomal recessive disorder defined by oculocutaneous albinism, platelet storage disorder with resultant bleeding diathesis and pulmonary fibrosis leading to end-stage lung disease. Despite known bleeding diathesis, patients with HPS-related pulmonary fibrosis have successfully tolerated lung transplantation. We detail the lung transplant evaluation of 10 patients with HPS-fibrosis, as well as the outcomes of 6 patients transplanted at a single center in the United States. <h3>Case Report</h3> Between 2003 and 2019, 10 patients with HPS-related pulmonary fibrosis underwent lung transplantation evaluation at our center <b>(table 1 & 2).</b> Three patients were declined listing. Reasons included advanced multi-system disease, obesity, and severe protein malnutrition placing candidates at high risk for perioperative complications and morbidity. Seven patients were listed for lung transplant (<b>table 3</b>), with six undergoing transplantation. Three patients tolerated perioperative ECMO. The majority received intraoperative prophylaxis for their bleeding diathesis. Reported estimated blood loss was increased in those that did not receive intraoperative prophylaxis. One patient expired in the immediate post-operative period due to arterial ECMO cannula dislodgement. No allograft developed fibrosis. Two patients developed chronic rejection, but allograft lifespans were greater than 6 years. For surveillance biopsies, the majority received routine pre-treatment with desmopressin with no significant bleeding. One patient did not and sustained substantial pulmonary hemorrhage, requiring intubation. <h3>Summary</h3> Early lung transplant evaluation can be pursued in patients with HPS-pulmonary fibrosis. This case series illustrates that these patients tolerate extra-corporeal membrane oxygenation as a bridge to transplantation, and can safely undergo transplant surgery and surveillance transbronchial biopsies with the use of anti-hemorrhagic prophylaxis.