Lung Transplant Can Benefit Those with PF-Linked Hermansky-Pudlak Syndrome, Study Reports

A lung transplant can benefit those whose pulmonary fibrosis (PF) stems from Hermansky-Pudlak syndrome (HPS), a study indicate.

The study, “Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation,” was published in the journal PLOS One.

HPS is a rare genetic disease characterized by blood platelet dysfunction. Its manifestations include prolonged bleeding, visual impairment, and abnormally light coloring of the skin, hair, and eyes.

Some types of HPS are associated with fibrotic lung diseases. Doctors sometimes recommend a lung transplant for a patient with advanced HPS pulmonary fibrosis.

A danger for HPS patients who have surgery like a lung transplant is the potential for excessive bleeding caused by blood platelet defects. Platelets are blood cells that usually promote plotting to stop bleeding.

The study that researchers did to see if a lung transplant could help those with HPS pulmonary fibrosis involved six patients scheduled for surgery between 2007 and 2015. Their ages ranged from 28 to 50 years old. All had platelet delta granule deficiencies, a condition that interferes with clotting.

Before their transplants, patients’ scores on a lung function measure known as forced vital capacity (FVC) ranged from 14 to 59 of normal lung capacity.

Unfortunately, three of the patients died of respiratory failure before the surgery because of transplant donation problems.

The other three patients had double lung transplants. Doctors’ tailored their strategies to prevent bleeding during and after surgery to the condition of each patient, based on their medical history and disease features.

One patient was doing well six years after a transplant, with an FVC of 77 percent. This  patient had had no previous bleeding problems, and was treated during and immediately after surgery with desmopressin,  a medication used to help stop bleeding by promoting blood clotting.

The second patient required a platelets transfusion due to bleeding during surgery. This patient’s body at first rejected the transplant, but the reaction was reversed. The patient was stable with an FVC of 57 percent 18 months after surgery.

The third patient had mild bleeding that was treated with prothrombin complex concentrate, platelet transfusion, and intravenous desmopressin. The patient had an FVC of 46 percent and was slowly improving four months after the transplant.

These “outcomes with disparate management for bleeding indicate that developing individualized therapeutic plans for management of potential peri-operative bleeding is appropriate for patients with HPS pulmonary fibrosis,” the researchers wrote.

They emphasized the importance of limiting exposure to donated blood components before a transplant. This would prevent patients’ body from being sensitized to a potential lung donation, they said.

“Lung transplantation has been successfully performed in patients with HPS pulmonary fibrosis, resulting in good clinical outcomes and long-term survival post-transplant in these 3 recipients without a history of excessive bleeding,” the team wrote. “However, the outcome of patients with HPS and a history of severe bleeding is unknown. Despite a tendency to bleed due to a platelet storage pool defect, effective homeostasis [stability] can be achieved in patients with HPS.”