Dr. Arkansas Childrens Hospital, Dept of Cardio, United States
Introduction: Macrophage activation syndrome (MAS) is a life-threatening condition consisting of hepatosplenomegaly, fever, and lymphadenopathy, cytopenias, hyperferritinemia, elevated inflammatory markers, and coagulopathy. These nonspecific clinical and laboratorial findings make early recognition difficult. Early diagnosis and treatment are paramount to decrease morbidity and mortality.
This report involves a 20-year-old adult congenital heart disease patient in septic shock due to Methicillin-sensitive Staphylococcus aureus (MSSA) of his prosthetic valve leading to MAS.
Description: Patient is a 20-year-old male with a history of truncus arteriosus with right ventricle (RV) to pulmonary artery (PA) conduit placement and closure of his ventricular septal defect as a neonate then with RV-PA conduit replacement as an adolescent. Two months after transcatheter pulmonary valve replacement with a 23 mm Sapien valve, the patient developed septic shock due to MSSA endocarditis. Due to echocardiographic findings of moderate pulmonary valve insufficiency with stenosis, increased gradient across the conduit, and worsening biventricular ventricular systolic function, pulmonary valve balloon angioplasty was performed. After resolution of acute infection, the patient required surgical replacement of his Sapien valve. Post replacement, hemodialysis, endotracheal intubations, chest tube placements, cachexia (CK elevated at 2,565) occurred. Ferritin was 7,616.3. CRP was 137 and ESR was >105. Because of concern for MAS, intravenous steroids, Anakinra and plasmapheresis were administered. Soluble interleukin (IL)-2R of 4,446 U/mL confirmed the diagnosis of MAS.
After 5 months of in-hospital rehabilitation, the patient recovered and to date has been doing well.
Discussion: This case brings new understanding about MAS as a cause for continued organ dysfunction in a patient with no personal or familial history of HLH, autoimmune, or rheumatological conditions. An inexpensive lab such a ferritin level >5000 can begin the process for expeditious recognition of MAS
