RESUMEN
Anti-synthetase syndrome (AS) is a subset of idiopathic inflammatory myopathy (IIM) characterized by the presence of anti-aminoacyl-transfer RNA synthetase accompanied by myositis, interstitial lung disease and other clinical features. According to a recent multicentric study, 31% of AS patients present skin lesions compatible with dermatomyositis, but sclerodermiform features are rare. Therefore, we aimed to report the case of a patient with simultaneous diagnosis of AS, deep morphea, vasculitic neuropathy, and myelodysplastic syndrome and review the current literature regarding these uncommon associations. A 57 year old man with axial and symmetrical proximal muscle weakness, skin thickening and B symptoms, later diagnosed with PL7 + AS, deep morphea, myelodysplastic syndrome (MDS) and vasculitic neuropathy documented by histopathologic studies and immunologic assessments. Since both AS and deep morphea share the vasculopathic changes and type II interferon-induced inflammation, we hypothesize that they may share pathogenic mechanisms. The muscle biopsy of the patient was consistent with AS and showed focal neutrophil infiltration. The patient received intensive immunosuppressive therapy for AS and vasculitic neuropathy, with high dose steroids, intravenous immunoglobulin (IVIg) and rituximab. Nonetheless, he suffered an unfavorable evolution with a fatal outcome due to septic shock. Albeit sclerodermiform features are rare in patients with AS, we propose a pathogenic link among AS, deep morphea and the autoimmune/autoinflammatory signs of MDS. The vasculopathic changes along with the activation of the innate and adaptive immune system leading to the production of proinflammatory cytokines may have been one of the contributing factors for the coexisting diagnosis of the patient.
Asunto(s)
Síndromes Mielodisplásicos , Miositis , Esclerodermia Localizada , Humanos , Masculino , Persona de Mediana Edad , Miositis/inmunología , Miositis/tratamiento farmacológico , Miositis/diagnóstico , Esclerodermia Localizada/tratamiento farmacológico , Esclerodermia Localizada/inmunología , Esclerodermia Localizada/patología , Síndromes Mielodisplásicos/complicaciones , Síndromes Mielodisplásicos/inmunología , Síndromes Mielodisplásicos/tratamiento farmacológico , Síndromes Mielodisplásicos/diagnóstico , Resultado Fatal , Inmunosupresores/uso terapéutico , Autoanticuerpos/sangre , Aminoacil-ARNt Sintetasas/inmunologíaRESUMEN
Resumen La vasculitis leucocitoclástica es un trastorno autoinmunitario que afecta pequeños vasos y provoca inflamación, destrucción y necrosis de los mismos; con frecuencia es subdiagnosticada. La causa es multifactorial, la fisiopatología es compleja y los inmunomoduladores son los medicamentos más importantes en su tratamiento. Este artículo tiene por objetivo revisar el estado actual del conocimiento en vasculitis leucocitocástica con insistencia en el diagnóstico y tratamiento. Se revisaron artículos publicados en el periodo comprendido entre 1990 y 2017. Los navegadores fueron Google Crome y Firefox y el motor de búsqueda fue Scholar google. Las bases de datos consultadas fueron: MEDLINE, RIMA Astra-Zeneca y las guías de práctica clínica del sistema de salud mexicano (CENETEC). Se revisaron 108 publicaciones relevantes para el tema, priorizando las pertenecientes a revistas indizadas en MEDLINE y Science Citation Index-JCR. Se requieren estudios para integrar subgrupos clínicos y de tratamiento e investigar los mecanismos de daño tisular en cada subgrupo. La inmunomodulación juega un papel central en el tratamiento.
Abstract Leukocytoclastic vasculitis is an autoimmune disorder that affects small vessels, and causes inflammation, destruction and necrosis of the same. It is often underdiagnosed. The etiology is multifactorial, the pathophysiology is complex and immunomodulators are the most important medications in their treatment. This article aims to review the current state of knowledge in leukocytoclastic vasculitis with emphasis on diagnosis and treatment. Articles published in the period from 1990 to 2017 were reviewed. The browsers were Google Crome and Firefox and the search engine was Scholar google. The database consulted was: MEDLINE, RIMA Astra-Zeneca and the clinical practice guidelines of the Mexican health system (CENETEC); 108 relevant publications to the subject were reviewed, prioritizing those belonging to journals indexed in MEDLINE and Science Citation Index-JCR. Studies are required to integrate clinical and treatment subgroups and investigate the mechanisms of tissue damage in each subgroup. Immunomodulation plays a central role in the treatment.