Lung Transplantation Viable Treatment for Hermansky-Pudlak Syndrome Pulmonary Fibrosis
Patients with Hermansky-Pudlak syndrome (HPS) subtypes HPS-1, HPS-2, and HPS-4 are at high risk of developing life-threatening fibrotic lung disease, for which there are currently no FDA-approved medical therapies. Subsequently, respiratory failure is a major cause of death in these patients; however, a case series suggests lung transplantation may be a viable treatment option for advanced HPS pulmonary fibrosis despite this genetic disorder also resulting in a tendency to bleed due to a deficiency of platelet-dense bodies. The case series included 6 patients with advanced HPS pulmonary fibrosis, 3 of who died before transplantation was possible and 3 who proceeded to receive bilateral lung transplants. None of the 3 patients who received lung transplants had a history of excessive bleeding, and effective hemostasis was achieved for all patients before and after transplantation. Follow up to 6 years posttransplantation found no evidence of chronic lung allograft dysfunction or recurrence of HPS pulmonary fibrosis in any of these patients.
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El-Chemaly S, O’Brien KJ, Nathan SD, et al. Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation. PLOS One. 2018;13(3):e0194193. https://doi.org/10.1371/journal.pone.0194193.