SAT0176 MACROPHAGE ACTIVATION SYNDROME IN MONOGENIC LUPUS: A RARE COMPLICATION OF A RARE DISEASE
Authors: Serkan Turkucar, Tugce Tunca Kucukali, Asena Baserdem, Erbil Unsal
Journal: Annals of the Rheumatic Diseases (2019)

<h3>Background:</h3> Macrophage activation syndrome (MAS) is one of the most severe, potentially life-threatening complication of childhood rheumatic diseases, especially SoJIA and J-SLE. MAS in the course of J-SLE has a high mortality rate (8%-22%) <sup>1</sup>; however, it is difficult to differentiate from the SLE flare itself. <h3>Objectives:</h3> This case report is presented to emphasize that the deterioration of certain clinical and laboratory findings of an SLE patient should alert the physician for development of MAS. <h3>Methods:</h3> We reported a monogenic lupus patient with MAS clinic with acute pancreatitis, who had c1qA gene mutation. <h3>Results:</h3> A 9-year-old male was first referred with photosensitivity and erythematous crusted lesions on his extremities and face while he was 2 years old. ANA was positive (1/1000 dilution) and skin biopsy from lesions was compatible with subacute lupus. Steroid, metotrexate and hydroxychloroquine were administrated. Patient's male identity and atypical age for lupus was further evaluated with "whole exome sequencing" method. Complement c1qA gene mutation was detected. Monthly fresh frozen plasma and IVIG treatments were added, which able to control the disease to some extent. He had acute gastroenteritis and fever, leading to activation of skin and oral mucosa lesions with on bilateral parotitis in his last visit (Figure-A). His body temperature was 39.9 °C. USG confirmed the parotitis. Regarding infectious gastroenteritis, IVIG and plasma with broad-spectrum antibiotics were administrated. Despite treatment, high fever persisted. He had hypotension, irritability, and hepatosplenomegaly with abdominal tenderness on physical examination. Abdomen CT was compatible with acute pancreatitis (Figure-B), and he had high amylase and lipase levels. Despite IV hydration with intense therapy, developing pancytopenia, hypoalbuminemia, increase in hepatic enzymes, decrease in fibrinogen and ESR with elevated CRP and ferritin levels were alerts for MAS. Bone marrow aspiration demonstrated hemophagocytosis (Figure-C). Pulse high dose IV methyl prednisolone treatment was started. Clinical and laboratory findings, particularly ferritin level, improved in the third day of treatment. Steroids were gradually reduced while cyclosporine was added. He is under remission with low dose steroid, cyclosporine-A and regular plasma infusions per 3 weeks. <h3>Conclusion:</h3> MAS is rarely seen in course of monogenic J-SLE, but may be serious. It is the first juvenile monogenic lupus case with MAS in the English literature, to best of our knowledge. It is important to distinguish this mortal clinical condition from the flare of disease and appropriate treatment should be started as soon as possible. <h3>Reference</h3> [1] Atteritano M, David A, Bagnato G, et.al. Hemophagocytic syndrome in rheumatic patients. A systematic review. Eur Rev Med Pharmacol Sci. 2012Oct; 16(10):1414-24. <h3>Disclosure of Interests:</h3> Serkan Turkucar: None declared, Tugce Tunca Kucukali: None declared, Asena Baserdem: None declared, Erbil Unsal Grant/research support from: Novartis, AbbVie, Roche, Koçak Pharma, Speakers bureau: Novartis, AbbVie, Roche, Koçak Pharma