ABSTRACT
Introducción. El síndrome de activación macrofágica (SAM) es una grave complicación de ciertas enfermedades reumáticas, especialmente la artritisidiopática juvenil sistémica (AIJS). El objetivo deeste trabajo es describir las manifestaciones clínicas y bioquímicas de pacientes con AIJS que desarrollaron SAM, así como su respuesta a diferentes esquemas terapéuticos.Población, material y métodos. Estudio observacional y restrospectivo de un grupo de niños con diagnóstico de AIJS que desarrollaron un SAM entre1993 y 2007. El diagnóstico de SAM se realizó sobre la base de elementos clínicos, bioquímicos y,en algunos casos, histopatológicos.Resultados. Se incluyeron 17 pacientes (14 niñas).La edad de los niños varió entre 1 y 16 años (mediana10 años). El SAM se desarrolló en el primer año de evolución de AIJS en 10 niños (en 6 fue la manifestacióninicial). Sus principales características fueron:fiebre continua (100%), hepatomegalia (100%),esplenomegalia (76%), erupción cutánea (59%),adenomegalias (53%), hemorragias (53%), compromisodel sistema nervioso central (SNC) (41%),edemas (29%); enzimas hepáticas elevadas (94%),plaquetopenia (76%), eritro sedimentación normal (76%), hipertrigliceridemia (71%), coagulopatía65%), leucopenia (59%), hipofibrinogenemia (47%);se halló hemofagocitosis en 9 de 13 (69%) pacientes biopsiados. El tratamiento incluyó corticosteroides en altas dosis en 17 (100%) casos, inmunosupresoresen 6 (35%). Doce (71%) pacientes remitieron y 529%) fallecieron en fallo multisistémico. Conclusiones. El SAM es un síndrome de variable gravedad que ocasiona morbimortalidad significativa.La presencia de fiebre continua, hepatosplenomegalia,coagulopatía, compromiso del SNC,citopenias hemáticas y normalización de la eritro sedimentaciónen un niño con AIJS deben despertar lasospecha diagnóstica, aun sin evidencia de hemofagocitosis.
Introduction. Macrophage activation syndrome is a severe complication of certain rheumatic diseases, mainly systemic juvenile idiopathic arthritis (SJIA).The objective of this presentation is to describe the clinical and biochemical features of patients with SJIA who developed MAS, and their response to different therapeutic regimes. Population, materials and methods. Retrospective, observational analysis of children with a diagnosis of SJIA who developed MAS between 1993 and 2007. Diagnosis of MAS was formulated based upon clinical, biochemical and, in some cases, histopathological evidence. Results. Seventeen children (14 girls) were included. Age varied between 1 and 16 years (median 10 years). MAS developed during the first year of AIJS course in 10 children (it was the presenting manifestation in 6). Its main features were: continuous fever (100%), hepatomegaly (100%), splenomegaly (76%), cutaneous rash (59%), lymphadenopathy (53%), hemorrhage (53%), CNS involvement (41%), edema (29%); elevated liver enzimes (94%), thrombocytopenia (76%), normal sedimentation rate (76%), hypertriglyceridemia (71%), coagulopathy (65%), leukopenia (59%), hypofibrinogenemia (47%); hemofagocytosis was found in 9 out of 13 (69%) patients who underwent biopsy. High-dose corticosteroids were prescribed in 17 cases and immunosupressants in 6. Twelve patients remitted and 5 died due to multiorgan failure. Conclusions. MAS is a syndrome of variable severity that may cause significant morbimortality. Presence of continuous fever, hepatosplenomegaly, coagulopathy, CNS involvement, cytopenias and normal sedimentation rate in a child with AIJS should prompt diagnosis, even without evidence of hemophagocytosis. Immunosuppressive therapy was effective in the majority of the studied patients.
Subject(s)
Child , Adolescent , Arthritis, Juvenile , Hepatomegaly , Macrophage Activation , Splenomegaly , Tertiary Healthcare , Observation , Retrospective StudiesABSTRACT
Introducción. El síndrome de activación macrofágica (SAM) es una grave complicación de ciertas enfermedades reumáticas, especialmente la artritisidiopática juvenil sistémica (AIJS). El objetivo deeste trabajo es describir las manifestaciones clínicas y bioquímicas de pacientes con AIJS que desarrollaron SAM, así como su respuesta a diferentes esquemas terapéuticos.Población, material y métodos. Estudio observacional y restrospectivo de un grupo de niños con diagnóstico de AIJS que desarrollaron un SAM entre1993 y 2007. El diagnóstico de SAM se realizó sobre la base de elementos clínicos, bioquímicos y,en algunos casos, histopatológicos.Resultados. Se incluyeron 17 pacientes (14 niñas).La edad de los niños varió entre 1 y 16 años (mediana10 años). El SAM se desarrolló en el primer año de evolución de AIJS en 10 niños (en 6 fue la manifestacióninicial). Sus principales características fueron:fiebre continua (100%), hepatomegalia (100%),esplenomegalia (76%), erupción cutánea (59%),adenomegalias (53%), hemorragias (53%), compromisodel sistema nervioso central (SNC) (41%),edemas (29%); enzimas hepáticas elevadas (94%),plaquetopenia (76%), eritro sedimentación normal (76%), hipertrigliceridemia (71%), coagulopatía65%), leucopenia (59%), hipofibrinogenemia (47%);se halló hemofagocitosis en 9 de 13 (69%) pacientes biopsiados. El tratamiento incluyó corticosteroides en altas dosis en 17 (100%) casos, inmunosupresoresen 6 (35%). Doce (71%) pacientes remitieron y 529%) fallecieron en fallo multisistémico. Conclusiones. El SAM es un síndrome de variable gravedad que ocasiona morbimortalidad significativa.La presencia de fiebre continua, hepatosplenomegalia,coagulopatía, compromiso del SNC,citopenias hemáticas y normalización de la eritro sedimentaciónen un niño con AIJS deben despertar lasospecha diagnóstica, aun sin evidencia de hemofagocitosis.(AU)
Introduction. Macrophage activation syndrome is a severe complication of certain rheumatic diseases, mainly systemic juvenile idiopathic arthritis (SJIA).The objective of this presentation is to describe the clinical and biochemical features of patients with SJIA who developed MAS, and their response to different therapeutic regimes. Population, materials and methods. Retrospective, observational analysis of children with a diagnosis of SJIA who developed MAS between 1993 and 2007. Diagnosis of MAS was formulated based upon clinical, biochemical and, in some cases, histopathological evidence. Results. Seventeen children (14 girls) were included. Age varied between 1 and 16 years (median 10 years). MAS developed during the first year of AIJS course in 10 children (it was the presenting manifestation in 6). Its main features were: continuous fever (100%), hepatomegaly (100%), splenomegaly (76%), cutaneous rash (59%), lymphadenopathy (53%), hemorrhage (53%), CNS involvement (41%), edema (29%); elevated liver enzimes (94%), thrombocytopenia (76%), normal sedimentation rate (76%), hypertriglyceridemia (71%), coagulopathy (65%), leukopenia (59%), hypofibrinogenemia (47%); hemofagocytosis was found in 9 out of 13 (69%) patients who underwent biopsy. High-dose corticosteroids were prescribed in 17 cases and immunosupressants in 6. Twelve patients remitted and 5 died due to multiorgan failure. Conclusions. MAS is a syndrome of variable severity that may cause significant morbimortality. Presence of continuous fever, hepatosplenomegaly, coagulopathy, CNS involvement, cytopenias and normal sedimentation rate in a child with AIJS should prompt diagnosis, even without evidence of hemophagocytosis. Immunosuppressive therapy was effective in the majority of the studied patients.(AU)
Subject(s)
Child , Adolescent , Macrophage Activation , Hepatomegaly , Splenomegaly , Tertiary Healthcare , Arthritis, Juvenile , Observation , Retrospective StudiesABSTRACT
This is the second report on the continuing efforts of LAGID to increase the recognition and registration of patients with primary immunodeficiency diseases in 12 Latin American countries: Argentina, Brazil, Chile, Colombia, Costa Rica, Honduras, Mexico, Panama, Paraguay, Peru, Uruguay, and Venezuela. This report reveals that from a total of 3321 patients registered, the most common form of primary immunodeficiency disease was predominantly antibody deficiency (53.2%) with IgA deficiency reported as the most frequent phenotype. This category was followed by 22.6% other well-defined ID syndromes, 9.5% combined T- and B-cell inmunodeficiency, 8.6% phagocytic disorders, 3.3% diseases of immune dysregulation, and 2.8% complement deficiencies. All countries that participated in the first publication in 1998 reported an increase in registered primary immunodeficiency cases, ranging between 10 and 80%. A comparison of the estimated minimal incidence of X-linked agammaglobulinemia, chronic granulomatous disease, and severe combined immunodeficiency between the first report and the present one shows an increase in the reporting of these diseases in all countries. In this report, the estimated minimal incidence of chronic granulomatous disease was between 0.72 and 1.26 cases per 100,000 births in Argentina, Chile, Costa Rica, and Uruguay and the incidence of severe combined immunodeficiency was 1.28 and 3.79 per 100,000 births in Chile and Costa Rica, respectively. However, these diseases are underreported in other participating countries. In addition to a better diagnosis of primary immunodeficiency diseases, more work on improving the registration of patients by each participating country and by countries that have not yet joined LAGID is still needed.
