Other / General Medicine
Sean Goldman, DO
Resident Physician
University of Miami
Boca Raton, Florida, United States
Alexander Plavnik, MS-IV
Medical Student
American University of the Caribbean
Miami, Florida, United States
Nicole L. Pontee, MD, MS
Assistant Professor
University of Miami Miller School of Medicine/Jackson Health Systems
Miami, Florida, United States
Sean Goldman, DO
University of Miami
Boca Raton, Florida, United States
When Autoimmunity Collides: Functional Recovery in Anti-EJ Anti-synthetase Overlap Syndrome with Myositis, ILD and Lupus Nephritis
Case Description: A 63-year-old woman with systemic lupus erythematosus (SLE), lupus nephritis, and diabetes developed acute hypoxic respiratory failure from cytomegalovirus (CMV) pneumonia, requiring intubation. Further workup revealed anti-EJ–positive inflammatory myopathy with biopsy-confirmed myositis and MRI evidence of muscle inflammation. Kidney biopsy demonstrated class III lupus nephritis with worsening renal function necessitating hemodialysis, which she was no longer necessitating hemodialisys with proper diagnosis and treament. This constellation reflects a rare SLE–antisynthetase overlap syndrome affecting muscle, lung, and kidney.
Despite multisystem disease and medical complexity, the patient achieved significant functional recovery during inpatient rehabilitation. Dialysis was discontinued after stabilization. At discharge, she progressed to modified independence in bed mobility, transfers, and ambulation—walking 150 feet with a rolling walker—and was nearly independent with stair climbing.
Discussions:
We present a case of a 42-year-old female with an established diagnosis of SLE who developed progressive proximal muscle weakness, elevated creatine kinase levels, and exertional dyspnea. Workup revealed class III lupus nephritis, seropositive myositis, and HRCT-confirmed ILD. The prevalence of such triple-overlap syndromes is extremely low, with estimates suggesting < 1% among patients with connective tissue diseases. Multidisciplinary management included immunosuppressive therapy, pulmonary rehabilitation, nephrology co-management, and tailored physiatric interventions.
Conclusions: This case illustrates the importance of recognizing rare autoimmune overlap syndromes in physical medicine and rehabilitation. With multidisciplinary management, patients can achieve meaningful functional gains even during active immunosuppressive treatment and multi-organ complications.