A Rare Case of Macrophage Activation Syndrome Presenting as the First Manifestation of Systemic Lupus Erythematosus.

Pooja Poudel,Sheetal Rayancha,Thein Swe

doi:10.1177/2324709618812196

Abstract

Macrophage activation syndrome (MAS) itself is a rare, potentially life-threatening complication of a rheumatic disease, mostly seen in juvenile idiopathic arthritis. It infrequently occurs in systemic lupus erythematosus (SLE), and it is extremely rare to be the first presentation of SLE. In a study of 511 patients with SLE, 7 cases (1.4%) of MAS were identified. In all the cases, MAS was simultaneous to the presentation of SLE in this article, we report a case of a patient with MAS who presented with fever, rash, and high ferritin level up to 16911 ng/mL. A high degree of suspicion is required that high fever and rash can be clues to MAS. Early diagnosis is necessary since mortality rates remain high for untreated cases.

Highlights

Macrophage activation syndrome (MAS) is a life-threatening condition
The term “macrophage activation syndrome” was first used in a description of the disorder by Albert et al[7] in 1992 and by Stephan et al in 1993.8 This terminology remains prevalent in the rheumatology literature, where as they often describe the similar phenomenon as secondary HLH in hematology and infectious literature.[9]
In 1991, Wong et al[10] proposed a disease entity of acute lupus hemophagocytic syndrome, in which MAS occurs in association with the Systemic lupus erythematosus (SLE) flare, and corticosteroid therapy was effective in those cases

Summary

Introduction

Macrophage activation syndrome (MAS) is a life-threatening condition. It belongs to the hemophagocytic lymphohistiocytosis (HLH) group of diseases, which includes familial HLH and secondary HLH. On further questioning, she had history of alopecia, arthritis, and oral ulcers intermittently Her past medical history was unremarkable for rheumatic disease, severe infections, or immunodeficiency. Vital signs were normal except for the temperature of 101.5°F On physical examination, she had diffuse erythematous maculopapular non-itchy rashes over her face and chest without mucocutaneous involvement. The presence of fever, cytopenia, elevated ferritin, low NK cell activity, elevated soluble IL-2 receptor, and hemophagocytic cells in bone marrow and lymph node led to the main diagnosis of MAS according to the HLH criteria.[5] At the same time, fever, arthritis, oral ulcers, alopecia, high titer ANA, anti-double-stranded DNA, and low complement suggested a diagnosis of SLE according to Systemic Lupus International Collaborating Clinics classification criteria.[6]. The patient was discharged from the hospital and recommended to follow-up at the outpatient clinic

Discussion

Molecular identification of HLH associated gene mutation

Conclusion