Case report: Hermansky-Pudlak syndrome (HPS) and single lung transplantation (LUTX)

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.