PReS-FINAL-2186: Monoallelic mutations of familial hlh-related genes associated to macrophage activation syndrome

C Bracaglia,E Sieni,V Cetica,F De Benedetti,M Da Ros,A Insalaco,M Aricò,C De Fusco,C Micalizzi

doi:10.1186/1546-0096-11-s2-o21

Abstract

Macrophage Activation Syndrome (MAS) is a severe complication of rheumatic diseases, frequently associated with systemic juvenile idiopathic arthritis (sJIA), but also described in others pediatric inflammatory disorders including Juvenile Systemic Lupus Erythematosus (SLE) and Kawasaki disease. Due to the close resemblance to a group of histiocytic disorders collectively known as hemophagocytic lymphohistiocytosis (HLH) it is currently classified among the secondary or acquired forms of HLH, and the term rheu-HLH has been proposed.

Highlights

Macrophage Activation Syndrome (MAS) is a severe complication of rheumatic diseases, frequently associated with systemic juvenile idiopathic arthritis, and described in others pediatric inflammatory disorders including Juvenile Systemic Lupus Erythematosus (SLE) and Kawasaki disease
We reviewed the hemophagocytic lymphohistiocytosis (HLH) Italian National Registry to select patients with MAS defined according to the diagnostic criteria established by the Histiocyte Society with confirmed diagnosis of rheumatologic or autoimmune disease
Among the 813 patients referred to the Registry, 38 (5%) were diagnosed as MAS in the context of a rheumatic disease

Summary

Introduction

Macrophage Activation Syndrome (MAS) is a severe complication of rheumatic diseases, frequently associated with systemic juvenile idiopathic arthritis (sJIA), and described in others pediatric inflammatory disorders including Juvenile Systemic Lupus Erythematosus (SLE) and Kawasaki disease. PReS-FINAL-2186: Monoallelic mutations of familial hlh-related genes associated to macrophage activation syndrome From 20th Pediatric Rheumatology European Society (PReS) Congress Ljubljana, Slovenia.

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