Anaesthetic management of Hermansky-Pudlak Syndrome with major hemorrhage: based on a case report

Abstract

Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, platelet dysfunction, and bleeding diathesis. This case discusses the anaesthetic and hemostatic management of a paediatric patient with HPS undergoing scoliosis surgery, which has not been previously documented. A 15-year-old female patient with HPS presented with scoliosis requiring surgical correction. Key clinical findings included albinism, neutropenia, cardiovascular abnormalities, and prolonged platelet function test results. Preoperative assessments identified significant risks of bleeding and pulmonary complications, necessitating multidisciplinary planning. Intraoperative interventions included the administration of 1-desamino-8 D-arginine vasopressin, tranexamic acid, and blood product transfusions to manage intraoperative hemorrhage. Postoperatively, the patient required intensive care support and was discharged without further complications. This case emphasizes the importance of early diagnosis, preoperative optimization, and individualized anaesthetic and hemostatic management for patients with HPS undergoing major surgery. Multidisciplinary collaboration and vigilance are essential to mitigating bleeding risks and ensuring favorable outcomes in this high-risk population.