TY - JOUR T1 - Case report: Hermansky-Pudlak syndrome (HPS) and single lung transplantation (LUTX) JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.congress-2020.3487 VL - 56 IS - suppl 64 SP - 3487 AU - Bettina Weingard AU - Franziska C. Trudzinski AU - Frederik Seiler AU - Philipp M. Lepper AU - Martin Hetzel AU - Hans-Joachim Schäfers AU - Robert Bals AU - Heinrike Wilkens AU - Frank Langer Y1 - 2020/09/07 UR - http://erj.ersjournals.com/content/56/suppl_64/3487.abstract N2 - HPS syndrome is a group of rare autosomal recessive disorders characterized by defective biogenesis of lysosome-related organelles presenting with occulocutaneous albinism, bleeding diathesis up to a development of severe pulmonary fibrosis (PF) in the subgroup HPS-1. LUTX as the only treatment option for affected patients in progressive PF is associated with an increased risk due to platelet disorder.A 48-year male albino patient with HPS-1 gene mutation, progressive PF and severe pulmonary hypertension (PH) was referred to our hospital (10/2018) to be evaluated for LUTX. First symptoms (dyspnea, cough) of the ILD occurred 12/2016. HPS was diagnosed in 05/2018, a pirfenidone treatment was initiated. The patient suffered from anxiety disorder and panic attacks. A LUTX was declined in another LUTX-center due to increased bleeding tendency and mental constitution. After 49 days on the waiting list with high LAS-score (NIV, FEV1=1.54 l (40%S), pO2=63 mmHg, pCO2=57 mmHg with 10 l/min oxygen, 6-MWT=10 m with 15 l/min oxygen) a single LUTX (RLU) was performed in our center 10/2018. Due to severe PH cardiopulmonary bypass was required. However despite increased bleeding risk and extracorporal circulation treatment with desmopressin and platelets (2U) was sufficient for hemostasis.01/2020 he is in excellent clinical and mental constitution with daily walks (~6 km) and still improving lung function, FEV1=3.52 l (87%S), TLC=6.13 l (84%S), DLCO=46%. Return to work as controller is scheduled.An early diagnosis and consideration of the need for LUTX is important for prolonging survival in HPS. A single LUTX achieved improvement of survival and quality of life in this patient with a very rare serious disease.FootnotesCite this article as: European Respiratory Journal 2020; 56: Suppl. 64, 3487.This abstract was presented at the 2020 ERS International Congress, in session “Respiratory viruses in the "pre COVID-19" era”.This is an ERS International Congress abstract. No full-text version is available. Further material to accompany this abstract may be available at www.ers-education.org (ERS member access only). ER -