Unveiling the Mystery of Adult-Onset Still's Disease: A Compelling Case Report

Abstract

Adult-onset Still's disease (AOSD) is a rare systemic inflammatory disorder. Diagnosis can take a long time, especially in the presence of confounding factors, and it is, to some extent, a process of exclusion. AOSD has life-threating complications ranging from asymptomatic to severe, such as macrophage activation syndrome (MAS), which is also referred to as hemophagocytic lymphohistocytosis (HLH). This condition is correlated with cytokine storm production and monocyte/macrophage overactivation and typically occurs with rash, pyrexia, pancytopenia, hepatosplenomegaly and systemic involvement. Exitus occurs in approximately 10% of cases. For the treatment of MAS-HLH, the Histiocyte Society currently suggests high-dose corticosteroids, with the possible addition of cyclosporine A, anti-interleukin (IL)-1, or IL-6 biological drugs; the inclusion of etoposide is recommended for the most severe conditions. In all cases, a multidisciplinary collaboration involving the resources and expertise of several specialists (e.g., rheumatologist, infectiologist, critical care medicine specialist) is advised. Herein, we provide a detailed description of the clinical case of a previously healthy young woman in which MAS developed as a dramatic onset manifestation of AOSD and whose diagnosis posed a real clinical challenge; the condition was finally resolved by applying the HLH-94 protocol (i.e., etoposide in combination with dexamethasone).

Keywords: adult-onset Still’s disease; autoimmunity; autoinflammatory diseases; fever of unknown origin; hemophagocytic lymphohistiocytosis; immune system; inflammation; macrophage activation syndrome; monocytes/macrophages; steroids.

Figure 1

Timeline with relevant data from the clinical history.

Figure 2

Patient radiological aspect in total body computed tomography (CT) scan: (A) chest CT revealing a 22 mm pericardial effusion and bilateral pleural effusions; (B) abdomen CT revealing severe hepatomegaly and moderate splenomegaly (before contrast); (C) another image of the same abdominal aspect (portal venous phase).

Figure 3

Patient bone marrow biopsy and aspiration showing hemophagocytic syndrome. (A) Bone marrow is highly hypercellular and shows predominance of mature myeloid elements; megacariocytes are well represented; cells of eritroblastic lineage are heavily reduced (hematoxylin–eosin, 100×); (B) macrophages were very numerous and collected in small aggregates or surrounding the adipocytes (CD68 immunostaining, 200×); (C) on smears of bone marrow, evidence of macrophages phagocytizing erythrocytes was observed (May-Grṻnwald Giemsa, 300×).