(1680) Extensive Thrombosis After Utilizing ECMO in a Child With Lysosomal Acid Lipase Deficiency

Introduction: Once a fatal disease in infancy, enzyme replacement therapy (ERT) has markedly improved the lifespan and outcomes in children with infantile-onset lysosomal acid lipase deficiency (LAL-D) also known as Wolman disease (WD). With treatment these children can develop normally with 79% surviving to 12 months and a 68% survival to 5 years. Previously not considered for ECMO, the newly improved outcomes may challenge this notion, though literature discussing ECMO for WD does not exist. We present a toddler with WD who received ECMO support and review the ELSO Registry database.

Description: A 20-month-old female with WD receiving weekly ERT (Sebelipase) via an indwelling central line since 5 weeks of age presented with fever and central line erythema, then rapidly progressed to severe vasoplegic shock. She required intubation and her vascular tone was refractory to norepinephrine, epinephrine, and vasopressin infusions, as well as stress dose hydrocortisone and methylene blue. Less than 24 hours from her initial presentation, she was placed on VA ECMO via central chest cannulation. Heparin was used for anticoagulation and coagulation goals were met during her 2 days of ECMO support. Less than 24 hours after decannulation, multiple thromboses occurred, including the left common femoral vein, inferior vena cava, thoracic and suprarenal aorta, superior mesenteric artery, multiple cerebral arteries, and the coronary arteries. Multisystem organ dysfunction and ischemia ensued, along with signs of secondary HLH. The family agreed to allow for natural death, and the patient died 8 days after ECMO decannulation following a ventricular fibrillation event.

Discussion: This is the first case describing the use of ECMO for a child with WD who developed multi-organ system dysfunction. Although the ECMO run was successful, she later succumbed to multiple catastrophic thromboses including a large ischemic stroke. While there are no reports of ECMO outcomes for patients with WD, the ELSO database identified 4 children under age 10 years with some form of LAL-D who received ECMO, and only 2 survived to discharge. Due to known thrombotic complications, we would consider these patients high-risk for ECMO support, and suggest a thoughtful anticoagulation strategy to combat the observed thrombotic complications.