CHEST Guidelines-Lung-Transplantation-in-Gaucher-Disease

Lung-Transplantation-in-Gaucher-Disease_chest

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The discussed article reports on a successful bilateral lung transplantation in a 49-year-old woman with type 1 Gaucher disease (GD1), complicated by severe pulmonary hypertension and lung fibrosis. GD is a lysosomal storage disorder caused by a deficiency in the enzyme glucocerebrosidase, leading to accumulation of Gaucher cells in various organs. This report is notable as it describes the first successful lung transplant in an adult with GD1, highlighting its potential as a treatment for severe pulmonary complications.<br /><br />Before the transplant, the patient was on enzyme replacement therapy (ERT) and multiple pulmonary hypertension treatments. Her medical history included splenectomy, severe bone disease, and renal involvement, factors considered relative contraindications for transplantation. Nevertheless, the need for transplant was justified by her progressive, life-threatening lung condition.<br /><br />The transplantation was performed in 2009, followed by a significant improvement in cardiac output and a decrease in pulmonary arterial pressure and Gaucher cell markers postoperatively. Despite initial improvements in kidney function, the patient's renal condition deteriorated, leading to a successful kidney transplant from an unrelated donor in 2011.<br /><br />Throughout the process, multiple GD-specific factors such as impaired renal function, osteonecrosis, previous splenectomy, and potential recurrence of Gaucher cells in the transplanted lungs were considered. The article emphasizes the importance of ERT in managing these factors and preventing disease recurrence in transplanted organs.<br /><br />Six years post-lung transplant, the patient remained in good health, showcasing stable lung function and no signs of Gaucher cell infiltration in the donor lungs. This case illustrates that lung transplantation can be a viable option for GD patients with severe pulmonary involvement, provided comprehensive pre- and post-transplant care, including continuous ERT. The report also advises medical teams to anticipate potential renal and skeletal complications post-transplant and underscores the necessity of planning for possible kidney transplantation early in the treatment process.

Keywords

Gaucher disease

lung transplantation

pulmonary hypertension

lung fibrosis

enzyme replacement therapy

renal involvement

splenectomy

Gaucher cells

lysosomal storage disorder

kidney transplant