Combined lung and liver transplantation for noncirrhotic portal hypertension with severe hepatopulmonary syndrome in a patient with dyskeratosis congenital

Abstract

DC is caused by defects at the level of telomere maintenance, and cells from patients with this disease have abnormally short telomeres and show premature senescence. One consequence of DC is bone marrow failure. Thus, patients with DC often require HSCT. However, HSCT does not ameliorate other DC-related manifestations. In fact, HSCT can accelerate organ dysfunction due to treatment-related complications, and solid organ transplantation is required in some patients with DC. In this report, we describe the clinical course of a 5-year-old boy who was transferred to our hospital because of progressive dyspnea, 2 years after HSCT. At admission, he had tachypnea and hypoxemia. A liver biopsy was performed for suspected HPS caused by PH, and LT was considered. Eventually, his hypoxemia worsened, and he was transferred to a PICU and started on VA ECMO. He subsequently underwent a CLLT. ECMO was stopped on post-operative day 12, extubation was achieved on post-operative day 29, and the patient recovered well from the surgery. Our results show that CLLT could be a life-saving treatment option for DC patients with very severe HPS in whom a poor outcome is expected after LT.