RESUMEN
We sought to determine the prevalence of additional connective tissue diseases (CTDs) in patients with idiopathic inflammatory myopathies (IIM), and to study the muscle biopsy patterns in various clinico-serologic subsets of myositis. We undertook a retrospective cohort study of 648 patients with a histological diagnosis of IIM. The following was determined from the South Australian Myositis Database: presence of associated CTDs, histological details and presence of myositis-specific (MSA) or myositis-associated (MAA) antibodies. Among patients with IIM, a significantly greater proportion had systemic sclerosis 32/648 (4.9%) than mixed connective tissue disease (12/648, p = 0.003), primary Sjogren's syndrome (12/648, p = 0.003), systemic lupus erythematosus (10/648, p < 0.001) or rheumatoid arthritis (6/648, p = 0.0001). Polymyositis was the most common IIM diagnosis regardless of the presence or absence of CTD. MSA/MAA was more commonly detected in those with systemic sclerosis than those with IIM alone (OR 5.35, p < 0.005). The higher prevalence of SSc (compared with other CTDs) in IIM, together with the more frequent detection of autoantibodies in this group, suggests that these conditions may be linked.
Asunto(s)
Enfermedades del Tejido Conjuntivo/epidemiología , Miositis/epidemiología , Esclerodermia Sistémica/epidemiología , Autoanticuerpos/sangre , Biomarcadores/sangre , Biopsia , Enfermedades del Tejido Conjuntivo/sangre , Enfermedades del Tejido Conjuntivo/diagnóstico , Bases de Datos Factuales , Humanos , Miositis/sangre , Miositis/diagnóstico , Prevalencia , Estudios Retrospectivos , Esclerodermia Sistémica/sangre , Esclerodermia Sistémica/diagnóstico , Australia del Sur/epidemiologíaRESUMEN
Introduction,: Graft-versus-host disease (GVHD) is a recognized complication of allogeneic stem cell transplantation (allo-SCT) and may affect muscle. We investigated the incidence and subtypes of inflammatory myopathy (IM) in South Australian recipients of allo-SCT. METHODS: Recipients of allo-SCT from 2004 to 2014 at the Royal Adelaide Hospital were identified. Records were reviewed to identify patients with weakness, creatine kinase (CK) elevation, and muscle biopsy confirming IM. RESULTS: Weakness was present in 32 of 224 patients who received allo-SCT patients reviewed, and CK was raised in 7 of 20 patients with weakness. Six patients developed biopsy-confirmed IM; 3 patients had chronic GVHD-related myopathy, 2 had necrotizing myopathy, and 1 had dermatomyositis (DM) associated with anti-melanoma differentiation associated protein 5 (MDA5) antibodies. The incidence of IM was calculated to be 2 cases per thousand annually. DISCUSSION: Among recipients of allo-SCT, weakness is common, and the incidence of IM is increased. Histopathological diagnoses are varied, and we report findings of necrotizing myopathy and anti-MDA5-associated DM. Muscle Nerve 58:790-795, 2018.
Asunto(s)
Enfermedad Injerto contra Huésped/etiología , Miositis/etiología , Complicaciones Posoperatorias/etiología , Trasplante de Células Madre/efectos adversos , Adolescente , Adulto , Anciano , Aloinjertos/metabolismo , Antígenos CD/metabolismo , Australia , Creatina Quinasa/sangre , Electromiografía , Femenino , Antígenos de Histocompatibilidad/metabolismo , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Debilidad Muscular/etiología , Miositis/epidemiología , Prevalencia , Estudios Retrospectivos , Adulto JovenRESUMEN
We describe the successful management of Anncaliia algerae microsporidial myositis in a man with graft versus host disease after hemopoietic stem cell transplantation. We also summarize clinical presentation and management approaches and discuss the importance of research into the acquisition of this infection and strategies for prevention.
Asunto(s)
Albendazol/uso terapéutico , Antiprotozoarios/uso terapéutico , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Microsporidios/aislamiento & purificación , Miositis/tratamiento farmacológico , Esporas Fúngicas/aislamiento & purificación , Anciano , Enfermedad Injerto contra Huésped/tratamiento farmacológico , Enfermedad Injerto contra Huésped/etiología , Enfermedad Injerto contra Huésped/inmunología , Enfermedad Injerto contra Huésped/patología , Humanos , Inmunosupresores/uso terapéutico , Masculino , Microsporidios/efectos de los fármacos , Microsporidios/patogenicidad , Miositis/diagnóstico , Miositis/inmunología , Miositis/microbiología , Nueva Gales del Sur , Esporas Fúngicas/efectos de los fármacos , Esporas Fúngicas/patogenicidad , Trasplante HomólogoRESUMEN
INTRODUCTION: The aim of this study was to determine whether a single-nucleotide polymorphism (SNP; 1858CT, R620W) in the protein tyrosine phosphatase N22 (PTPN22) gene confers susceptibility to idiopathic inflammatory myopathy (IIM) in South Australian patients with IIM. METHODS: Genotyping was performed on stored DNA from 199 patients with histologically confirmed polymyositis (PM), dermatomyositis (DM), and inclusion body myositis (IBM), and then compared with 455 matched controls. Associations with the 8.1 ancestral haplotype (AH), and myositis-specific (MSA) and myositis-associated (MAA) autoantibodies were investigated. RESULTS: The PTPN22 R620W minor allele frequency was increased in IIM patients (50 of 398, 12.6%) compared with controls (75 of 910, 8.2%) (odds ratio 1.6, 95% confidence interval 1.1-2.3, P = 0.016). In IIM patients, there was no association between the R620W minor allele and detection of any MSA/MAA (P = 0.70), nor any evidence of epistasis with the 8.1 AH (P = 0.69). CONCLUSIONS: The PTPN22 R620W minor allele is associated with susceptibility to IIM in SA patients, independent of the 8.1 AH. Muscle Nerve, 2016 Muscle Nerve 55: 270-273, 2017.