RESUMEN
BACKGROUND: Systemic autoinflammatory disorders (SAIDs) represent a growing spectrum of diseases characterized by dysregulation of the innate immune system. The most common pediatric autoinflammatory fever syndrome, Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA), has well defined clinical diagnostic criteria, but there is a subset of patients who do not meet these criteria and are classified as undefined autoinflammatory diseases (uAID). This project, endorsed by PRES, supported by the EMERGE fellowship program, aimed to analyze the evolution of symptoms in recurrent fevers without molecular diagnosis in the context of undifferentiated AIDs, focusing on PFAPA and syndrome of undifferentiated recurrent fever (SURF), using data from European AID registries. METHODS: Data of patients with PFAPA, SURF and uSAID were collected from 3 registries including detailed epidemiological, demographic and clinical data, results of the genetic testing and additional laboratory investigations with retrospective application of the modified Marshall and PRINTO/Eurofever classification criteria on the cohort of PFAPA patients and preliminary SURF criteria on uSAID/SURF patients. RESULTS: Clinical presentation of PFAPA is variable and some patients did not fit the conventional PFAPA criteria and exhibit different symptoms. Some patients did not meet the criteria for either PFAPA or SURF, highlighting the heterogeneity within these groups. The study also explored potential overlaps between PFAPA and SURF/uAID, revealing that some patients exhibited symptoms characteristic of both conditions, emphasizing the need for more precise classification criteria. CONCLUSIONS: Patients with recurrent fevers without molecular diagnoses represent a clinically heterogeneous group. Improved classification criteria are needed for both PFAPA and SURF/uAID to accurately identify and manage these patients, ultimately improving clinical outcomes.
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Enfermedades Autoinflamatorias Hereditarias , Linfadenitis , Faringitis , Sistema de Registros , Estomatitis Aftosa , Humanos , Niño , Europa (Continente)/epidemiología , Femenino , Masculino , Estomatitis Aftosa/diagnóstico , Estomatitis Aftosa/epidemiología , Preescolar , Enfermedades Autoinflamatorias Hereditarias/diagnóstico , Linfadenitis/diagnóstico , Linfadenitis/epidemiología , Faringitis/diagnóstico , Adolescente , Lactante , Estudios Retrospectivos , Fiebre/etiología , Fiebre/diagnóstico , RecurrenciaRESUMEN
Familial Mediterranean fever is the most common monogenic auto-inflammatory disease in the world. It mainly affects people originating from the Mediterranean region. The mutated gene is MEFV, which codes for pyrin. Transmission is autosomal recessive. Patients present with recurrent attacks of fever since childhood associated with abdominal and/or thoracic pain lasting an average of 2-3days and a biological inflammatory syndrome. Other symptoms include arthralgia or arthritis in large joints such as the knees and ankles, myalgia in the lower limbs and pseudo-erysipelas in the ankles. The most serious complication is inflammatory amyloidosis, which can lead to kidney failure. Treatment is based on colchicine, which helps to prevent flares and the onset of renal amyloidosis. This paper proposes national guidelines for the diagnosis, management and follow-up of familial Mediterranean fever in France, where we estimate there are between 5000 and 10,000 patients with the disease at all stages of life. The diagnosis is suspected on the basis of clinical and anamnestic factors and confirmed by genetic analysis. These guidelines also suggest a "treat-to-target" approach to disease management, particularly in case of suspected colchicine resistance - a very rare situation that should remain a diagnosis of elimination, especially after colchicine compliance has been verified. Two special situations are also addressed in these guidelines: kidney failure and pregnancy.
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Amiloidosis , Fiebre Mediterránea Familiar , Insuficiencia Renal , Humanos , Niño , Fiebre Mediterránea Familiar/diagnóstico , Fiebre Mediterránea Familiar/epidemiología , Fiebre Mediterránea Familiar/genética , Colchicina/uso terapéutico , Amiloidosis/complicaciones , Pirina/genética , Insuficiencia Renal/complicaciones , MutaciónRESUMEN
Kawasaki disease (KD) is an acute vasculitis with a particular tropism for the coronary arteries. KD mainly affects male children between 6 months and 5 years of age. The diagnosis is clinical, based on the international American Heart Association criteria. It should be systematically considered in children with a fever, either of 5 days or more, or of 3 days if all other criteria are present. It is important to note that most children present with marked irritability and may have digestive signs. Although the biological inflammatory response is not specific, it is of great value for the diagnosis. Because of the difficulty of recognising incomplete or atypical forms of KD, and the need for urgent treatment, the child should be referred to a paediatric hospital as soon as the diagnosis is suspected. In the event of signs of heart failure (pallor, tachycardia, polypnea, sweating, hepatomegaly, unstable blood pressure), medical transfer to an intensive care unit (ICU) is essential. The standard treatment is an infusion of IVIG combined with aspirin (before 10 days of fever, and for a minimum of 6 weeks), which reduces the risk of coronary aneurysms. In case of coronary involvement, antiplatelet therapy can be maintained for life. In case of a giant aneurysm, anticoagulant treatment is added to the antiplatelet agent. The prognosis of KD is generally good and most children recover without sequelae. The prognosis in children with initial coronary involvement depends on the progression of the cardiac anomalies, which are monitored during careful specialised cardiological follow-up.
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Aneurisma Coronario , Síndrome Mucocutáneo Linfonodular , Vasculitis , Niño , Humanos , Masculino , Lactante , Síndrome Mucocutáneo Linfonodular/diagnóstico , Síndrome Mucocutáneo Linfonodular/terapia , Síndrome Mucocutáneo Linfonodular/complicaciones , Aspirina/uso terapéutico , Fiebre/etiología , Vasculitis/complicaciones , Aneurisma Coronario/diagnóstico , Aneurisma Coronario/etiología , Aneurisma Coronario/terapia , Inmunoglobulinas Intravenosas/uso terapéuticoRESUMEN
This French National Diagnostic and Care Protocol (NDPC) includes both pediatric and adult patients with non-infectious chronic uveitis (NICU) or non-infectious recurrent uveitis (NIRU). NICU is defined as uveitis that persists for at least 3 months or with frequent relapses occurring less than 3 months after cessation of treatment. NIRU is repeated episodes of uveitis separated by periods of inactivity of at least 3 months in the absence of treatment. Some of these NICU and NIRU are isolated. Others are associated with diseases that may affect various organs, such as uveitis associated with certain types of juvenile idiopathic arthritis, adult spondyloarthropathies or systemic diseases in children and adults such as Behçet's disease, granulomatoses or multiple sclerosis. The differential diagnoses of pseudo-uveitis, sometimes related to neoplasia, and uveitis of infectious origin are discussed, as well as the different forms of uveitis according to their main anatomical location (anterior, intermediate, posterior or panuveitis). We also describe the symptoms, known physiopathological mechanisms, useful complementary ophthalmological and extra-ophthalmological examinations, therapeutic management, monitoring and useful information on the risks associated with the disease or treatment. Finally, this protocol presents more general information on the care pathway, the professionals involved, patient associations, adaptations in the school or professional environment and other measures that may be implemented to manage the repercussions of these chronic diseases. Because local or systemic corticosteroids are usually necessary, these treatments and the risks associated with their prolonged use are the subject of particular attention and specific recommendations. The same information is provided for systemic immunomodulatory treatments, immunosuppressive drugs, sometimes including anti-TNFα antibodies or other biotherapies. Certain particularly important recommendations for patient management are highlighted in summary tables.
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Síndrome de Behçet , Esclerosis Múltiple , Uveítis , Adulto , Humanos , Niño , Uveítis/diagnóstico , Uveítis/epidemiología , Uveítis/etiología , Síndrome de Behçet/complicaciones , Corticoesteroides/uso terapéutico , Inmunosupresores/uso terapéutico , Esclerosis Múltiple/complicacionesRESUMEN
The aim of this study was to compare the effectiveness of the gene-panel next-generation sequencing (NGS) strategy versus the clinical-based gene Sanger sequencing for the genetic diagnosis of autoinflammatory diseases (AIDs). Secondary goals were to describe the gene and mutation distribution in AID patients and to evaluate the impact of the genetic report on the patient's medical care and treatment. Patients with AID symptoms were enrolled prospectively and randomized to two arms, NGS (n = 99) (32-55 genes) and Sanger sequencing (n = 197) (one to four genes). Genotypes were classified as 'consistent/confirmatory', 'uncertain significance' or 'non-contributory'. The proportion of patients with pathogenic genotypes concordant with the AID phenotype (consistent/confirmatory) was significantly higher with NGS than Sanger sequencing [10 of 99 (10·1%) versus eight of 197 (4·1%)]. MEFV, ADA2 and MVK were the most represented genes with a consistent/confirmed genotype, whereas MEFV, NLRP3, NOD2 and TNFRSF1A were found in the 'uncertain significance' genotypes. Six months after the genetic report was sent, 54 of 128 (42·2%) patients had received effective treatment for their symptoms; 13 of 128 (10·2%) had started treatment after the genetic study. For 59 of 128 (46%) patients, the results had an impact on their overall care, independent of sequencing group and diagnostic conclusion. Targeted NGS improved the diagnosis and global care of patients with AIDs.
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Genotipo , Enfermedades Autoinflamatorias Hereditarias/diagnóstico , Enfermedades Autoinflamatorias Hereditarias/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Adulto , Femenino , Humanos , Masculino , Estudios ProspectivosRESUMEN
Early screening is recommended in children exposed to a contagious case of tuberculosis (TB), to prevent rapid progression to active TB. The aim of this study was to evaluate the percentage of potentially preventable cases of pediatric TB stemming from inadequate screening. The data gathered on children aged 0 to 10 years, who were evaluated by the Paris Center for TB Control (CLAT75) between January 2009 and December 2013, were extracted and retrospectively analyzed. French National Guidelines for screening were used as reference. During the study period, 1232 children 0-10 years were screened, because of a known exposure to an index case, including 124 (10%) with criteria for latent tuberculosis infection (LTBI) and 26 (2%) with active TB. Twelve additional cases of TB were reported, diagnosed based on symptoms or systematic exams. As a whole, 68% of pediatric TB cases were diagnosed at screening around an adult index case, highlighting the quality of the screening network. Among the 38 TB cases, 19 (50%) had a missed opportunity for potential prevention, due to the absence of screening despite a known contaminant (n=2) or to screening not in compliance with current recommendations (n=17). Delayed first evaluation was the most frequent error of the screening procedures. In conclusion, despite the quality of the screening network set up in Paris, half of the pediatric TB cases in this study did not undergo the recommended screening procedures. A significant reduction in the number of pediatric TB cases can be expected through the optimization of screening networks.
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Tamizaje Masivo/métodos , Tuberculosis/diagnóstico , Antituberculosos/uso terapéutico , Niño , Preescolar , Femenino , Humanos , Lactante , Ensayos de Liberación de Interferón gamma/métodos , Masculino , Paris/epidemiología , Estudios Retrospectivos , Prueba de Tuberculina/métodos , Tuberculosis/epidemiología , Tuberculosis/prevención & controlRESUMEN
Conventional immunosuppressive drugs, anti-TNF alpha and other biotherapies used in clinical practice are capable of controlling non-infectious anterior uveitis, posterior uveitis and panuveitis. The present work has been led by a multidisciplinary panel of experts, internists, rheumatologists and ophthalmologists and is based on a review of the literature. In case of corticodependency or sight-threatening disease, conventional immunosuppressive drugs (methotrexate, azathioprine and mycophenolate mofetil) and/or anti-TNF alpha (adalimumab, infliximab) are used to achieve and maintain remission. Interferon is an efficient immunomodulatory treatment, as a second-line therapy, for some therapeutic indications (refractory macular edema, Behçet's vascularitis). Other biologics, especially tocilizumab, are showing promising results. Local treatments (corticosteroids, sirolimus etc.) are adjuvant therapies in case of unilateral inflammatory relapse. Therapeutic response must be evaluated precisely by clinical examination and repeated complementary investigations (laser flare photometry, multimodal imaging, perimetry, electroretinography measures).
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Guías de Práctica Clínica como Asunto , Uveítis/terapia , Corticoesteroides/uso terapéutico , Anticuerpos Monoclonales/uso terapéutico , Productos Biológicos/uso terapéutico , Terapia Biológica/métodos , Testimonio de Experto , Humanos , Inmunosupresores/uso terapéutico , Guías de Práctica Clínica como Asunto/normas , Factor de Necrosis Tumoral alfa/inmunologíaRESUMEN
The auto-inflammatory diseases linked to NLRC4 mutations are recently described entities. Transmission is autosomal dominant in 80 % of cases; cases of somatic mutation have already been reported. The disease may display two very different clinical phenotypes: the phenotype 1 (30 %), severe, is dominated by a multisystemic inflammation starting in the first year of life with symptoms of chronic inflammatory bowel disease (IBD), macrophagic actication syndrome (MAS), or even a presentation suggesting a cryopyrinopathy in its CINCA form; the mortality of this phenotype is high (25 %). The phenotype 2 (70 %), mild, usually starts after the age of 3 and is characterized by cold urticaria, arthralgia, ocular features and fever in 50 % of cases without visceral failure. Anti-interleukin-1 inhibitors are effective in most cases (83 %). Interleukin-18 (IL-18) levels are very high in both clinical forms. Interleukin-18 inhibitors and anti-interferon-gamma inhibitors were remarkably effective in two very severe phenotype 1 patients. Thus, NLRC4 mutations can induce various clinical manifestations with two distinct phenotypes. Although still rare, because very recently described, this group of diseases could be evoked by an internist in front of cold familial urticarial; probably more and more cases will be diagnosed thanks to the major progresses of genetic diagnostic tools such as next generation sequencing.
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Proteínas Adaptadoras de Señalización CARD/genética , Proteínas de Unión al Calcio/genética , Enfermedades Autoinflamatorias Hereditarias/genética , Femenino , Predisposición Genética a la Enfermedad , Enfermedades Autoinflamatorias Hereditarias/diagnóstico , Humanos , Inflamación/inmunología , Masculino , Mutación , FenotipoRESUMEN
Monogenic auto-inflammatory diseases are characterized by genetic abnormalities coding for proteins involved in innate immunity. They were initially described in mirror with auto-immune diseases because of the absence of circulating autoantibodies. Their main feature is the presence of peripheral blood inflammation in crisis without infection. The best-known auto-inflammatory diseases are mediated by interleukines that consisted in the 4 following diseases familial Mediterranean fever, cryopyrinopathies, TNFRSF1A-related intermittent fever, and mevalonate kinase deficiency. Since 10 years, many other diseases have been discovered, especially thanks to the progress in genetics. In this review, we propose the actual panorama of the main known auto-inflammatory diseases. Some of them are recurrent fevers with crisis and remission; some others evaluate more chronically; some are associated with immunodeficiency. From a physiopathological point of view, we can separate diseases mediated by interleukine-1 and diseases mediated by interferon. Then some polygenic inflammatory diseases will be shortly described: Still disease, Schnitzler syndrome, aseptic abscesses syndrome. The diagnosis of auto-inflammatory disease is largely based on anamnesis, the presence of peripheral inflammation during attacks and genetic analysis, which are more and more performant.
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Enfermedades Autoinflamatorias Hereditarias/diagnóstico , Diagnóstico Diferencial , Predisposición Genética a la Enfermedad , Enfermedades Autoinflamatorias Hereditarias/genética , Enfermedades Autoinflamatorias Hereditarias/fisiopatología , Humanos , Inmunidad Innata/genética , Inmunidad Innata/inmunología , Inflamación/inmunología , MutaciónRESUMEN
Tumour necrosis receptor associated periodic syndrome (TRAPS) is a rare cosmopolitan dominant autosomal disease that belongs to the group of recurrent autoinflammatory syndromes. TRAPS is characterized by recurrent bouts of fever lasting more than 7 days, with arthralgia, myalgia, abdominal pain, erythematous rash and sometimes ocular symptoms. During flares, raised inflammatory markers are constant. The age of onset may occur during childhood but also during adulthood. TRAPS is caused by mutations in the TNF receptor 1 (TNFRSF1A) gene that may occur in most of the populations over the world. In the majority of patients, history shows affected relatives, even if sporadic cases do exist. Management of TRAPS usually involves corticosteroid therapy during inflammatory flares. The most severe cases require a treatment with biological agents (mainly interleukin 1 inhibitors). The prognosis of TRAPS is overall good; the main risk is represented by the development of secondary inflammatory amyloidosis. This risk is greatest in patients with structural mutations leading to conformation abnormalities of the TNFRSF1A receptor. Regular clinical and biological monitoring is essential in the follow-up of TRAPS patients.
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Fiebre/diagnóstico , Enfermedades Autoinflamatorias Hereditarias/diagnóstico , Receptores Tipo I de Factores de Necrosis Tumoral/genética , Factores Biológicos/uso terapéutico , Fiebre/tratamiento farmacológico , Fiebre/genética , Glucocorticoides/uso terapéutico , Enfermedades Autoinflamatorias Hereditarias/tratamiento farmacológico , Enfermedades Autoinflamatorias Hereditarias/genética , Humanos , Inflamasomas/metabolismo , Interleucina-1/metabolismo , MutaciónRESUMEN
Familial Mediterranean Fever (FMF) is the most frequent monogenic auto-inflammatory disease. FMF is an autosomal recessive disease, which affects populations from Mediterranean origin and is associated with MEFV gene mutations encoding for the protein pyrin. Pyrin activation enhances the secretion of interleukin 1 by myelo-monocytic cells. Main features of the disease are acute attacks of serositis mainly located on the abdomen, less frequently on chest and joints, accompanied by fever and biological inflammatory markers elevation. Usually attacks last 1 to 3 days and spontaneously stop. A daily oral colchicine intake of 1 to 2mg/day is able to prevent attack's occurrence, frequency, intensity and duration among most patients. Colchicine is also able to prevent the development of inflammatory amyloidosis, the most severe complication of FMF. This state of the art article will focus on the diagnosis of FMF, the treatment and an update on the pathophysiology including the recent described dominant form of MEFV-associated new auto-inflammatory diseases.
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Colchicina/uso terapéutico , Fiebre Mediterránea Familiar/diagnóstico , Moduladores de Tubulina/uso terapéutico , Colchicina/efectos adversos , Diagnóstico Diferencial , Fiebre Mediterránea Familiar/complicaciones , Fiebre Mediterránea Familiar/tratamiento farmacológico , Humanos , Mutación , Pirina/genética , Moduladores de Tubulina/efectos adversosRESUMEN
Mevalonate kinase deficiency is a rare, autosomal recessive, auto-inflammatory disease. This results from mutations in the gene MVK coding for the enzyme mevalonate kinase. This enzyme is involved in cholesterol and isoprenoids synthesis. Depending partially of the residual activity of the mevalonate kinase, the clinical spectrum realizes a continuum which extends from the mild phenotype of the hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) to a lethal form of mevalonic aciduria. The HIDS is characterized by recurrent episodes of fever with an intense inflammatory syndrome, accompanied with lymphadenopathy, abdominal pain, diarrhea, arthralgia, hepatomegaly, splenomegaly and skin rash. The first attack more frequently takes place in the first year of life, even during the neonatal period, where it can be confused with a maternofetal infection. There is furthermore in mevalonate aciduria a psychomotor retardation, a failure to thrive, a cerebellar ataxia, a dysmorphic syndrome and a reduction of the visual acuity. The diagnosis is based on the mevalonic aciduria during febrile attack. Genetics confirm the diagnosis in more than 80 % of the cases. The dosage of IgD, low sensitive and specific, has no interest. There is no reference treatment. The less severe forms can be treated by non-steroidal anti-inflammatory drugs or steroids during febrile attacks. The most severe patients can be treated by biotherapy: antagonists of IL-1, TNF-α and IL-6.
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Deficiencia de Mevalonato Quinasa/diagnóstico , Fosfotransferasas (Aceptor de Grupo Alcohol)/genética , Diagnóstico Diferencial , Humanos , Deficiencia de Mevalonato Quinasa/complicaciones , Deficiencia de Mevalonato Quinasa/terapia , MutaciónRESUMEN
Deficiency of adenosine deaminase 2 (DADA2) is a recently described auto-inflammatory disorder. It is an autosomal recessive inherited disease, caused by mutations in the ADA2 gene (formerly known as CECR1) encoding ADA2 enzyme. Besides its role in the purine metabolism, it has been postulated that ADA2 may act as a growth factor for endothelial cells and in the differenciation of monocytes. Thus, deficiency of ADA2 would lead to endothelial damage and a skewing of monocytes into M1 pro-inflammatory macrophage, causing DADA2 manifestations. Three core clinical features have been described: inflammatory-vascular signs, hematologic abnormalities and immunodeficiency. Clinically, patients display intermittent fever, cutaneous vascular manifestations, such as livedo, ischemic strokes, arthralgia and abdominal pain crisis. Corticosteroids and immunosuppressive agents (i.e. cyclophosphamide, azathioprine, ciclosporin, methotrexate) appear to be poorly effective. Although the mechanism has not been elucidated, anti-TNF agents have been proven efficient in DADA2 and should therefore be used as first line therapy for vasculitis. Role of anti-platelet and anticoagulant therapies in stroke-prophylaxis remains to be discussed, as those patients display a high risk of intracranial bleeding.
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Adenosina Desaminasa/deficiencia , Agammaglobulinemia/diagnóstico , Péptidos y Proteínas de Señalización Intercelular/genética , Inmunodeficiencia Combinada Grave/diagnóstico , Adenosina Desaminasa/genética , Agammaglobulinemia/complicaciones , Agammaglobulinemia/tratamiento farmacológico , Femenino , Humanos , Inmunosupresores/uso terapéutico , Masculino , Mutación , Fenotipo , Inmunodeficiencia Combinada Grave/complicaciones , Inmunodeficiencia Combinada Grave/tratamiento farmacológico , Vasculitis/tratamiento farmacológico , Vasculitis/etiologíaAsunto(s)
Enfermedades Óseas Metabólicas/etiología , Huesos/patología , Degeneración Hepatolenticular/diagnóstico , Huesos/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Ceruloplasmina/análisis , Niño , Cobre/orina , Femenino , Degeneración Hepatolenticular/complicaciones , Humanos , Imagen por Resonancia MagnéticaRESUMEN
OBJECTIVE: The ENVOL study was designed to assess the psychosocial impact of disease and therapy in a French cohort of cryopyrin-associated periodic syndromes (CAPS) patients (and caregivers) treated with canakinumab. METHODS: The ENVOL study was a multicenter, observational study of CAPS patients given ≥1 canakinumab dose. Data were collected before treatment, at 6 and 12 months afterward, and at the last visit. Patients and caregivers completed questionnaires assessing changes from the 12 months of pretreatment to 12 months prior to interview. Data were analyzed retrospectively. RESULTS: The study included 10 physicians and 68 patients (53 adults, 15 children). Sixty-five patients (95.6%) were still receiving canakinumab at the last visit (median 5 years after starting therapy). The mean ± SD score for patient-reported general health increased from 7 ± 2.9 before canakinumab to 2.7 ± 2.7 after treatment (P < 0.001). Physical and emotional symptoms resolved or improved in a substantial proportion of patients, including bodily pain (38 of 46 patients), fever (32 of 39), skin disease (35 of 41), fatigue (31 of 47), self-confidence (29 of 46), and energy (34 of 47). Social activity, relationships, sexuality, and energy measures improved in >40% of respondents. Caregivers spent a median of 3 versus 0.5 hours/week on care in the 12 months of pretreatment versus 12 months prior to interview (P < 0.001). Following treatment, patients required fewer consultations with general practitioners (mean ± SD per patient per year: 5.2 ± 7.4 versus 8.5 ± 7.2 pretreatment), internists/rheumatologists/dermatologists (2.0 ± 2.1 versus 3.7 ± 3.9), and pediatricians (1.8 ± 1.5 versus 4.4 ± 4.2). CONCLUSION: Long-term treatment with canakinumab achieves a highly relevant improvement in the physical, emotional, and social lives of patients with CAPS, accompanied by a marked reduction in support required from caregivers and in health care consultations.
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Anticuerpos Monoclonales/administración & dosificación , Síndromes Periódicos Asociados a Criopirina/diagnóstico , Síndromes Periódicos Asociados a Criopirina/tratamiento farmacológico , Adolescente , Adulto , Anticuerpos Monoclonales Humanizados , Niño , Preescolar , Síndromes Periódicos Asociados a Criopirina/epidemiología , Esquema de Medicación , Femenino , Francia/epidemiología , Humanos , Masculino , Estudios RetrospectivosRESUMEN
Chronic recurrent multifocal osteomyelitis (CRMO) is a rare autoinflammatory disease in children. Pathological vertebral fracture may be the first symptom revealing this disease. We describe the case of a 14-year-old boy, with no significant past medical history, who had a sudden dorsal pain after carrying a friend on his back. Plain radiographs and MRI showed fractures of the superior endplate of T5 and T6 associated with a mild degree of kyphosis. MRI allowed ruling out discitis. The diagnostic hypotheses raised were cancer (lymphoma, leukemia), Langerhans cell histiocytosis, osteogenesis imperfecta, and CRMO. A whole-body MRI (wbMRI) was performed and disclosed several clinically silent signal abnormalities in key sites of CRMO (pelvic bone and tibial metaphyses). We point out that CRMO should be systematically added to the list of possible diseases in case of vertebral fracture. In this perspective, wbMRI is a major noninvasive tool to assess the diagnosis of CRMO, and allows avoiding a bone biopsy in most cases.