Pulmonary Type B Niemann-Pick Disease Successfully Treated with Lung Transplantation

Abstract

Background. Niemann-Pick Disease (NPD) type B is a rare autosomal recessive disease characterised by hepatosplenomegaly and pulmonary disease, highlighted by preserved volumes and diminished diffusion capacity of the lung for carbon monoxide (DLCO) on pulmonary function tests (PFTs). There is no current accepted treatment for the disease. We present a case of a successful bilateral lung transplant in a patient with a DLCO of 14%, and significant pulmonary changes attributable to NPD type B on computed tomography (CT) chest, and both microscopic and macroscopic assessment of the lung explant. To the author’s knowledge this is only the third case of lung transplantation in a patient with NPD type B and is one of two current living patients post lung transplantation for NPD type B. Case Report. A 64-year-old male patient underwent bilateral lung transplantation for NPD type B. Preoperative PFTs demonstrated preserved volumes with significantly decreased DLCO, with imaging showing a diffuse reticular interstitial pattern, typical of chronic fibrotic lung disease. The patient suffered from primary graft dysfunction type 3 in the postoperative period as well as rejection managed with methylprednisolone and intravenous immunoglobulin. The patient improved steadily and was discharged 80 days post-transplantation. Conclusions. This case is only the third reported case of lung transplantation in a patient with NPD type B and the second case of a patient with NPD type B currently living post-transplantation, being at postoperative day (POD) 267 at the time of manuscript drafting. It demonstrates that lung transplantation, although hazardous, is a viable strategy for treatment in patients with NPD type B who have significant pulmonary involvement.

Bilateral Cystic Bronchiectasis as Novel Phenotype of Niemann-Pick Disease Type B Successfully Treated With Double Lung Transplantation

“…2 Our case adds to the three recent reports of lung transplantation in patients with NPDB (Table 1). The cases described by O'Neill et al, 3 Mannem et al, 4 Ding et al, 5 and the present case demonstrate that lung transplantation is a feasible therapeutic option in patients with end-stage lung disease. Although the affected lungs may show heterogeneous pathologic features, they share, as a pathologic hallmark, the presence of large clusters of foamy lipid-laden macrophages in lung tissue.…”

Double-Lung Transplantation in a Patient with Pulmonary Type B Niemann-Pick Disease: A Valid Treatment Option

“…O'neill and colleagues also described the case of a 64-year-old man with type B NPD disease, a history of splenic rupture, and portal and pulmonary hypertension, who underwent double-lung transplant. He had a postoperative period with multiple and serious complications including primary graft dysfunction grade 3, vasoplegia, acute renal failure that required hemodialysis, atrial fibrillation, different infections, upper gastrointestinal bleeding, and cerebral ischemic changes in the frontal lobe [ 8 ]. On day 45 posttransplantation, he was diagnosed with acute cellular rejection and acute antibody-mediated rejection, but he could finally be discharged from the hospital 85 days after the transplant.…”

Interstitial lung disease in lysosomal storage disorders

“…At least three cases of lung transplantation in ASMD-B have been reported [72][73][74]. One patient died at day 29 post-transplantation, one was discharged at day 80 and the last one was still alive 35 months after lung transplantation [72,73].…”

“…At least three cases of lung transplantation in ASMD-B have been reported [72][73][74]. One patient died at day 29 post-transplantation, one was discharged at day 80 and the last one was still alive 35 months after lung transplantation [72,73]. However, lung transplantation involves two important issues: 1) the disease may reappear; and 2) debulking of ceramide after cleavage of the sphingomyelin substrate by transplanted lung cells may cause a pro-inflammatory cascade, by releasing ceramide likewise in the ERT (see below) [75].…”