Endogenous lipoid pneumonia in adult autoinflammatory disease.

Abstract

We describe one of the first cases of endogenous lipoid pneumonia (ELP) in an adult patient with the clinical picture of adult-onset Still disease (AOSD) and a low penetrance genetic background of tumour necrosis factor receptor-associated periodic syndrome (TRAPS). This case highlights the complex pathophysiology of lung involvement in autoinflammatory diseases, operating at the interface of the innate and adaptive immune system. This case presents a 53-year-old immunocompromised woman with treatment refractory autoinflammatory disease and history of macrophage activation syndrome (MAS), presenting to the emergency room with progressive dyspnea and fever. Upon evaluation, chest-CT showed diffuse lung disease. Extensive work-up, including bronchoscopy with bronchoalveolar lavage remained negative. Lung biopsy revealed an ELP with intra-alveolar accumulation of cholesterol crystals and foamy macrophages. In the years preceding the event, her autoinflammatory disease had shown to be refractory to both conventional systemic disease-modifying antirheumatic drugs, as well as biologic treatments including tocilizumab, anakinra and canakinumab. Because of new onset respiratory failure in the context of uncontrolled inflammation, after exclusion of infectious origin, pulse doses of systemic corticosteroids were administered before induction with cyclophosphamide, followed by maintenance therapy with tacrolimus. Upon treatment, our patient recovered, but retained severe interstitial lung disease. Only one case of ELP in adult autoinflammatory disease has been depicted in a patient diagnosed with AOSD, although the entity is more recognized in paediatric literature on systemic onset juvenile idiopathic arthritis (soJIA). METHODS: Literature review on ELP in autoinflammatory diseases was performed in PubMed, without language restrictions, and comprised publications from January 1953 until November 2024. The literature search addressed lung disease in AOSD, TRAPS and soJIA using the following MESH terms: endogenous lipoid pneumonia, pulmonary alveolar proteinosis, parenchymal lung disease, macrophage activation syndrome, adult-onset Still disease, tumour necrosis factor receptor-associated periodic syndrome and systemic onset juvenile idiopathic arthritis.