Macrophage activation syndrome with hypoplastic marrow and Orbital myositis as a unique initial presentation of Systemic Lupus Erythematosus: A Case-Based Review.

Abstract

Macrophage activation syndrome (MAS) with hypoplastic marrow is a rare, but life-threatening presenting manifestation of systemic lupus erythematosus (SLE). Lupus orbitopathy also is very rarely reported in the literature. We hereby report for the first time a 19-year-old girl who had a unique combination of MAS with hypoplastic marrow and orbitopathy as a presenting feature of lupus. We discussed in detail our patient's demographic characteristics, clinical features, treatment, and outcome. Our patient responded well to high-dose glucocorticoids along with 6 monthly doses of intravenous cyclophosphamide as per the modified National Institute of Health protocol followed by tacrolimus. Her prednisolone dose could be tapered to 7.5 mg daily after eight months of treatment. We made a search on PubMed and Scopus for a literature review. We obtained 15 cases of MAS as a presenting feature in lupus, of which four had associated hypoplastic marrow. Males and juvenile age groups were equally affected with MAS as a presenting feature of lupus. Most of the patients responded to high-dose glucocorticoids. Only one patient succumbed to MAS. We also reviewed 14 cases of lupus orbitopathy with their clinical, and imaging characteristics, treatment, and outcome. Females predominated in these cases with mean age being 43.6 years (SD +/- 16.9 years). Treatment with glucocorticoids and immunosuppressive agents leads to complete resolution in most patients. The diagnosis of MAS with orbitopathy as a presenting feature of lupus in a 19-year-old girl poses a diagnostic challenge and requires the prompt exclusion of the common mimickers before initiation of aggressive immunosuppression.