Lung transplantation for diffuse pulmonary arteriovenous malformations associated with juvenile polyposis-hereditary hemorrhagic telangiectasia overlap syndrome: a case report.

Background: Lung transplantation is a viable lifesaving option for patients with diffuse pulmonary arteriovenous malformations (AVMs). We present a case of diffuse pulmonary AVMs associated with juvenile polyposis and hereditary hemorrhagic telangiectasia (JP-HHT) that was successfully managed by lung transplantation.

Case Presentation: A 19-year-old woman developed severe hypoxemia due to pulmonary AVMs diagnosed at 4 years of age. She also had epistaxis, hemangioma of the tongue, and numerous polyps in the gastrointestinal tract, leading to the JP-HHT diagnosis. Although she had undergone transcatheter embolization for pulmonary AVMs four times, all lesions became recanalized, and her hypoxemia never improved. She also had hepatic AVMs that did not result in portal hypertension or required any interventions. She underwent bilateral lung transplantation from a brain-dead donor at 3 years after registration. Given that she had severe hypoxemia caused by intrapulmonary shunting, venoarterial extracorporeal membrane oxygenation (V-A ECMO) support was initiated from the femoral vessels under local anesthesia. Then, she was anesthetized and intubated. Peripheral V-A ECMO was switched to central cardiopulmonary bypass during the transplant procedure to prevent persistent hypoxia of the upper body and thromboembolic event due to severe polycythemia. The total graft ischemic time was > 11 h, which resulted in ischemia-reperfusion injury immediately after transplantation. Furthermore, the patient's postoperative course was complicated by acute cellular rejection and right heart failure due to hepatic AVM progression. She was finally discharged home without oxygen therapy on postoperative day 68. At 1-year post-transplantation, she is currently enjoying college life. However, she still has to undergo periodic endoscopic examinations to monitor her numerous polyps, which are known to carry a risk of cancer development.

Conclusions: Lung transplantation can be a viable treatment option for diffuse pulmonary AVMs in patients with JP-HHT. However, meticulous perioperative management is mandatory to prevent the development of multiple organ disorders.