Journal Scan

Lung Transplantation Viable Treatment for Hermansky-Pudlak Syndrome Pulmonary Fibrosis

Posted on

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.

Read more here.


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.

Related Articles
New Opsumit (macitentan) Data Show Initial Combination Therapy with Tadalafil Improved Hemodynamic Clinical and Functional Parameters in Patients with Pulmonary Arterial Hypertension
May 31, 2020
FDA Approves First Treatment for Chronic Fibrosing ILDs with Progressive Phenotype
Mar 16, 2020
AAAI Cancels Annual Meeting
Mar 14, 2020