Síndrome d'activació macrofàgica com a forma de debut d'una artritis idiopàtica juvenil sistèmica / Síndrome de activación macrofágica como debut de una artritis idiopática juvenil sistémica / Juvenile systemic rheumatoid arthritis presenting as macrophage activation syndrome

INTRODUCCIÓ: La síndrome d'activació macrofàgica (SAM) és una limfohistiocitosi hemofagocítica que apareix en el context d'una malaltia reumatològica I típicament s'associa a l'artritis idiopàtica juvenil sistèmica (AIJS). CAS CLÍNIC: Es presenta el cas d'una nena de 23 mesos amb febre de 6 dies, hiperèmia conjuntival, exantema I edema al dors de mans I peus. Inicialment es va descartar una malaltia infecciosa I posteriorment es va orientar com a malaltia de Kawasaki. Se li va fer una ecocardiografia, amb resultat normal, I es va iniciar gammaglobulina endovenosa I ibuprofèn; no es va objectivar resposta clínica. L'estudi d'autoanticossos va ser negatiu. La pacient va presentar de manera progressiva artràlgies, hepatosplenomegàlia I embassament pleural. En l'analítica destacava anèmia, trombocitopènia, leucocitosi I elevació dels reactants de fase aguda (RFA). Davant la sospita clínica I analítica de SAM es va fer un aspirat de medul·la òssia, I no es van objectivar signes d'hemofagocitosi ni malignitat. Es va iniciar tractament amb corticosteroides a dosis altes; l'estat general va millorar, però van persistir la febre, les artràlgies, la leucocitosi I els RFA augmentats. Es va orientar com a debut d'AIJS associat a SAM, motiu pel qual es va afegir al tractament l'anti-IL-1 (anakinra). Al cap de 48 hores la febre va desaparèixer I la pacient ja presentava millora clínica I dels paràmetres inflamatoris I d'activació macrofàgica. COMENTARIS: La SAM és una malaltia potencialment mortal I pot ser el debut d'una malaltia sistèmica, com l'AIJS. Conèixer els criteris clínics I analítics de totes dues entitats és fonamental per al diagnòstic precoç. El tractament amb corticosteroides I amb anti-IL-1 sol ser molt eficaç

INTRODUCCIÓN: El síndrome de activación macrofágica (SAM) es una linfohistiocitosis hemofagocítica que aparece en el contexto de una enfermedad reumatológica y típicamente se asocia a la artritis idiopática juvenil sistémica (AIJS). CASO CLÍNICO: Se presenta el caso de una niña de 23 meses con fiebre de 6 días de evolución, hiperemia conjuntival, exantema y edema en el dorso de manos y pies. Inicialmente se descartó una enfermedad infecciosa y posteriormente se orientó como enfermedad de Kawasaki. Se realizó ecocardiografía, que resultó normal, y se iniciaron gammaglobulinas endovenosas e ibuprofeno, sin objetivarse una respuesta clínica. El estudio de autoanticuerpos resultó negativo. Progresivamente presentó artralgias, hepatoesplenomegalia y derrame pleural. Analíticamente destacaba anemia, trombocitopenia, leucocitosis y elevación de los reactantes de fase aguda (RFA). Bajo la sospecha de SAM se realizó aspirado de médula ósea sin objetivarse signos de hemofagocitosis ni malignidad. Se inició tratamiento con corticosteroides a dosis altas con mejoría del estado general, pero persistiendo fiebre, artralgias, leucocitosis y RFA aumentados. Se orientó como debut de AIJS asociado a SAM, por lo que se añadió al tratamiento la anti-IL-1 (anakinra). A las 48 horas desapareció la fiebre y presentó mejoría clínica y de los parámetros inflamatorios y de activación macrofágica. COMENTARIOS: El SAM es una enfermedad potencialmente mortal y puede ser el debut de una enfermedad sistémica como la AIJS. Conocer los criterios clínicos y analíticos de las dos entidades es fundamental para su diagnóstico precoz. El tratamiento con corticosteroides y con anti-IL-1 suele ser muy eficaz

INTRODUCTION: The macrophage activation syndrome (MAS) is a hemophagocytic lymphohystiocytosis developing in the context of a rheumatologic disease and it is commonly associated to systemic juvenile idiopathic arthritis (sJIA). CASE REPORT: A 23-month-old child was admitted with a six-day history of fever, conjunctival hyperemia, rash, and hand and foot edema. An infectious disease process was first ruled out, and Kawasaki disease was then suspected. The echocardiogram did not show abnormalities, and intravenous gamma globulin and ibuprofen were administered, without clinical response. The autoantibody screening was negative. The patient progressively developed arthralgias, hepatosplenomegaly and pleural effusion. Blood tests showed anemia, thrombocytopenia, leukocytosis, and elevated inflammatory markers. MAS was suspected, and bone marrow aspirate was performed, which showed no signs of hemophagocytosis or malignancy. Treatment with high-dose corticosteroids was started, resulting in improvement of the general condition of the patient, but with persistence of fever, joint pain, leukocytosis, and elevated inflammatory markers. sJIA-associated MAS was suspected, and interleukin-1-receptor antagonist (anakinra) was started, with significant clinical improvement, decrease in inflammatory markers, and resolution of the fever in 48 hours. COMMENTS: MAS is a life-threatening illness that can present as the first sign of sJIA. It is important to know the diagnostic criteria of both entities for early diagnosis. Treatment with corticosteroids and anti-IL-1 is very effective

Analysis of employment rate and social status in young adults with childhood-onset rheumatic disease in Catalonia.

BACKGROUND: Rheumatic diseases of childhood, in particular juvenile idiopathic arthritis, are chronic conditions associated with considerable morbidity and mortality that can have repercussions on aspects of adult life. The aim of this study was to determine the employment rate and social status of patients with childhood-onset rheumatic disease attending a pediatric rheumatology transition unit. METHODS: A census was taken of patients seen in the Pediatric Rheumatology Transition Unit of Hospital Vall d'Hebron (Barcelona, Spain). We collected demographic and clinical variables and determined the patients' functional capacity. All patients seen during the period of September to December 2013 underwent a survey containing items related to their social situation, maximum academic level achieved, and working life. Correlations were sought between clinical variables associated with a poor prognosis and the patients' job performance. The data were analyzed and compared with those of an age-matched cohort from the general population of Catalonia. RESULTS: Of 130 patients included in the census, 96 responded to the survey. Steinbrocker grade III and IV disability (poorer functional capacity) (p = 0.0025) and longer disease duration (p = 0.017) were significantly related to greater difficulty getting a job. Patients with grade III and IV disability and those with more severe disease showed trends to having more problems carrying out work-related tasks. Our cohort included a higher percentage of students than the age-matched comparison population (50 % vs 24 %, respectively) (p = 0.0001); 82 % of patients had completed studies beyond the compulsory education level. The employment rate was lower in our patient cohort than in the comparison cohort (38.3 % vs 59.9 %) (p = 0.0001), whereas the percentage of unemployed was similar. Patients with milder disease had a higher probability of living with their parents up to a later age (OR = 3.2, 95 % CI 0.38-6.15; p = 0.029). CONCLUSIONS: Despite the advances in treatment, some patients with childhood-onset rheumatic disease encounter difficulties in their later social and working life. In our cohort, the time period needed to complete their studies tended to be longer, and incorporation into the workforce occurred at a later age. Our findings reinforce the idea that psychological support and vocational guidance are important factors in the management of these patients.

[Efficacy of tacrolimus (FK-506) in the treatment of recalcitrant juvenile dermatomyositis: study of 6 cases]. / Eficacia de tacrolimus (FK-506) en el tratamiento de las formas graves de dermatomiositis infantil: estudio de 6 casos.

BACKGROUND AND OBJECTIVE: To analize the response to treatment with oral tacrolimus in severe juvenile dermatomyositis. PATIENTS AND METHOD: Clinical charts of the patients diagnosed at our hospital as having definite juvenile dermatomyositis between 1998 and 2004, who have completed 12 months of treatment with oral tacrolimus, were reviewed retrospectively. The MMT (Manual Muscle Testing)-Kendall scale, the MDAA (Myosits Disease Activity Assessment), and the Riley et al score were used for the evaluation of the muscular and skin response. RESULTS: The study included 6 patients, (evolution: 0.16-11 years). At the end of the follow-up period (12 months) there was a significant improvement at both, muscular and cutaneous level in all patients. Side effects were not observed. Tapering of the daily corticosteroids dose was also possible. CONCLUSIONS: Oral tacrolimus therapy seems to be an effective and safe alternative in cases of severe juvenile dermatomyositis, especially in those with an important cutaneous involvement.

Eficacia de tacrolimus (FK-506) en el tratamiento de las formas graves de dermatomiositis infantil: estudio de 6 casos / Efficacy of tacrolimus (FK-506) in the treatment of recalcitrant juvenile dermatomyositis: study of 6 cases

Fundamento y objetivo: Analizar la respuesta al tratamiento con tacrolimus por vía oral en la dermatomiositis infantil grave. Pacientes y método: Se revisaron retrospectivamente las historias clínicas de los pacientes remitidos al Hospital Materno-Infantil Vall d'Hebron entre 1998 y 2004 con el diagnóstico de dermatomiositis definida y que habían completado 12 meses de tratamiento con tacrolimus. Se evaluaron las respuestas muscular y cutánea mediante las escalas MMT (Manual Muscle Testing)-Kendall, MDAA (Myosits Disease Activity Assessment) y la valoración cutánea de Riley et al. Resultados: El estudio incluyó a 6 pacientes (evolución de 0,16 a 11 años). Al completar el tiempo de estudio se objetivó en todos ellos una mejoría significativa tanto de la afectación muscular como cutánea. No se observaron efectos secundarios y fue posible reducir la dosis diaria de glucocorticoides. Conclusiones: El tacrolimus por vía oral parece ser una opción eficaz y segura en casos de dermatomiositis grave, y especialmente en aquellos con una mayor afectación cutánea

Background and objective: To analize the response to treatment with oral tacrolimus in severe juvenile dermatomyositis. Patients and method: Clinical charts of the patients diagnosed at our hospital as having definite juvenile dermatomyositis between 1998 and 2004, who have completed 12 months of treatment with oral tacrolimus, were reviewed retrospectively. The MMT (Manual Muscle Testing)-Kendall scale, the MDAA (Myosits Disease Activity Assessment), and the Riley et al score were used for the evaluation of the muscular and skin response. Results: The study included 6 patients, (evolution: 0.16-11 years). At the end of the follow-up period (12 months) there was a significant improvement at both, muscular and cutaneous level in all patients. Side effects were not observed. Tapering of the daily corticosteroids dose was also possible. Conclusions: Oral tacrolimus therapy seems to be an effective and safe alternative in cases of severe juvenile dermatomyositis, especially in those with an important cutaneous involvement