Autoinflammatory syndromes: report on three cases

Thais Cunha Matos,Cássia Maria Barbosa,Claudio Arnaldo Len,Maria Teresa Ramos Ascensão Terreri,Daniela Gerent Petry,Maria Odete Esteves Hilário

doi:10.1590/s1516-31802009000500012

Abstract

Autoinflammatory syndromes are diseases manifested by recurrent episodes of fever and inflammation in multiple organs. There is no production of autoantibodies, but interleukins play an important role and acute-phase reactants show abnormalities. Our aim was to report on three cases of autoinflammatory syndromes that are considered to be rare entities. The authors describe the clinical features of three patients whose diagnosis were the following: tumor necrosis factor receptor-associated periodic syndrome (TRAPS), chronic infantile neurological cutaneous articular (CINCA) syndrome and familial Mediterranean fever (FMF). All of the patients presented fever, joint or bone involvement and increased acute phase reactants. The genetic analysis confirmed the diagnoses of two patients. The great diversity of manifestations and the difficulties in genetic analyses make the diagnosing of these diseases a challenge.

Highlights

Autoinflammatory syndromes are monogenic diseases characterized by episodes of recurrent systemic inflammation that usually present with fever, which may or may not be associated with cutaneous rash, serositis, lymphadenopathy or arthritis
Most chronic or recurrent fevers within the pediatric age group are usually due to infection or neoplasia, autoinflammatory syndromes should be considered, especially in cases of unknown origin
Autoinflammatory syndromes are characterized by recurrent episodes of systemic inflammation and frequent fever.[3]

Summary

Introduction

Autoinflammatory syndromes are monogenic diseases characterized by episodes of recurrent systemic inflammation that usually present with fever, which may or may not be associated with cutaneous rash, serositis, lymphadenopathy or arthritis. These syndromes are diseases of the innate immunity Receptors present in this immunity, such as the nucleotide oligomerization domain (NOD) and pyrin domain-containing protein (NALP), which are responsible for recognition of pathogens or cell damage, can result in exaggerated inflammasome activation when mutated.[1,2] most chronic or recurrent fevers within the pediatric age group are usually due to infection or neoplasia, autoinflammatory syndromes should be considered, especially in cases of unknown origin. Included in these are the hereditary periodic fever syndromes: familial Mediterranean fever (FMF), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) and cryopyrin-associated periodic syndrome (CAPS), which includes chronic infantile neurological cutaneous and articular (CINCA) syndrome, Muckle-Wells syndrome (MWS) and familial cold urticaria (FCU)

Objectives

Conclusion