RESUMEN
Autoimmune diseases comprise a spectrum of disorders characterized by the dysregulation of immune tolerance, resulting in tissue or organ damage and inflammation. Their prevalence has been on the rise, significantly impacting patients' quality of life and escalating healthcare costs. Consequently, the prediction of autoimmune diseases has recently garnered substantial interest among researchers. Despite their wide heterogeneity, many autoimmune diseases exhibit a consistent pattern of paraclinical findings that hold predictive value. From serum biomarkers to various machine learning approaches, the array of available methods has been continuously expanding. The emergence of artificial intelligence (AI) presents an exciting new range of possibilities, with notable advancements already underway. The ultimate objective should revolve around disease prevention across all levels. This review provides a comprehensive summary of the most recent data pertaining to the prediction of diverse autoimmune diseases and encompasses both traditional biomarkers and the latest innovations in AI.
Asunto(s)
Inteligencia Artificial , Enfermedades Autoinmunes , Biomarcadores , Humanos , Biomarcadores/sangre , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/sangre , Enfermedades Autoinmunes/inmunología , Aprendizaje Automático , PronósticoRESUMEN
INTRODUCTION: Arthralgias are prevalent in systemic autoimmune rheumatic diseases (SARD), emphasizing the need for early recognition. This study aimed to estimate SARD frequency and compare clinical, laboratory, and imaging findings among SARD, non-inflammatory arthralgia (NIA), and RA in patients with hand arthralgias. METHODS: A prospective evaluation program included individuals aged ≥18 with hand arthralgias. Baseline assessments covered clinical, laboratory, ultrasound, and radiography. Follow-up diagnoses categorized patients into SARD, NIA, and RA groups. Comparison between groups was performed using parametric and non-parametric tests. Two multivariate logistic regression analyzes were performed using the final diagnosis of SARD as the dependent variable (NIA and RA). ROC curves were calculated in those variables that presented an independent association in the multivariate analysis. RESULTS: Among 1053 patients, 9.6% were SARD (SLE 47%). Comparing SARD with NIA revealed higher CRP levels, power Doppler, less rhizarthrosis in ultrasound, and more ANA positivity in SARD patients. Distinct differences were observed between SARD and RA patients in terms of pain levels, swollen joints, metacarpophalangeal involvement and morning symptoms. Diagnostic markers demonstrated specific sensitivities and specificities: ANA for SARD versus NIA (82%, 34%), US not finding rhizarthrosis for SARD versus NIA (66%, 85%), CRP (cut-off >2.5 mg/L) sensitivity 52%, specificity 60%, AUC 0.62, RA antibodies (RF, 11 IU/mL) sensitivity 76%, specificity 74%, AUC 0.8, ACPA (1.25) sensitivity 50%, specificity 98%, AUC 0.7, ANA+ sensitivity 95%, specificity 32%, AUC 0.7, and US absence of synovitis sensitivity 82%, specificity 34%, AUC 0.75. CONCLUSION: This study highlights distinct clinical, laboratory, and imaging features differentiating SARD-related hand arthralgia from non-SARD hand arthralgia and RA.
Asunto(s)
Artralgia , Enfermedades Autoinmunes , Articulaciones de la Mano , Valor Predictivo de las Pruebas , Humanos , Masculino , Femenino , Persona de Mediana Edad , Estudios Prospectivos , Artralgia/diagnóstico , Adulto , Articulaciones de la Mano/diagnóstico por imagen , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/epidemiología , Enfermedades Autoinmunes/inmunología , Artritis Reumatoide/diagnóstico , Artritis Reumatoide/epidemiología , Anciano , Diagnóstico Diferencial , Biomarcadores/sangre , PrevalenciaRESUMEN
PURPOSE: To report two cases of non-granulomatous unilateral anterior uveitis in two female patients associated with autoimmune liver diseases (ALD), emphasizing the possibility of this rare coexistence as a polyautoimmunity phenomenon. CASE DESCRIPTIONS: Case 1: An 18-year-old female with a history of congenital renal hypoplasia and metabolic syndrome presented with anterior uveitis in OS and a history of jaundice, blood elevated hepatic enzymes, and cholangioresonance compatible with primary sclerosing cholangitis (PSC). Laboratory work-up for additional autoimmune and infective causes were within normal limits. Case 2: An 58-year-old female presented an episode of anterior uveitis in OD and a history of Sjögren syndrome diagnosed at the age of 53, primary biliary cholangitis (PBC), systemic sclerosis, Raynaud's phenomenon, bilateral sacroiliitis, and vitiligo, consistent with polyautoimmunity and multiple autoimmune syndrome. CONCLUSIONS: Uveitis rarely coexists with ALD. However, it is essential to recognize the possibility of polyautoimmunity in patients presenting with ophthalmic manifestations and a previous diagnosis of ALD, such as PSC or PBC.
Asunto(s)
Enfermedades Autoinmunes , Uveítis Anterior , Humanos , Femenino , Adolescente , Persona de Mediana Edad , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/inmunología , Enfermedades Autoinmunes/complicaciones , Uveítis Anterior/diagnóstico , Uveítis Anterior/inmunologíaRESUMEN
PURPOSE: To present an atypical case of severe bilateral ocular toxoplasmosis with systemic involvement that initially mimicked an autoimmune etiology, posing challenges to its diagnosis and treatment. CASE REPORT: A 39-year-old immunocompetent male was admitted to the hospital due to a presumed pulmonary thromboembolism concomitant with an abrupt onset of vision loss. Initial differential diagnoses included antiphospholipid syndrome and systemic lupus erythematosus, prompting the administration of corticosteroid pulses and rituximab. Despite observing a partial systemic response, there was no improvement in visual acuity. Subsequent aqueous humor polymerase chain reaction confirmed Toxoplasma gondii infection, leading to the introduction of oral antibiotic therapy. The patient's condition showed a partially favorable response; however, the treatment could not reverse the permanent retinal damage. CONCLUSION AND IMPORTANCE: This case underscores the importance of ruling out an infectious etiology in all cases of uveitis. Additionally, it alerts clinicians to the possibility that elevated positive autoantibodies may result from a severe inflammatory reaction caused by pathogens rather than an autoimmune or autoinflammatory disease, particularly in instances of poor treatment response or atypical clinical presentation.
Asunto(s)
Enfermedades Autoinmunes , Toxoplasma , Toxoplasmosis Ocular , Humanos , Masculino , Adulto , Toxoplasmosis Ocular/diagnóstico , Toxoplasmosis Ocular/tratamiento farmacológico , Diagnóstico Diferencial , Toxoplasma/inmunología , Toxoplasma/aislamiento & purificación , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/tratamiento farmacológico , Enfermedades Autoinmunes/inmunología , Humor Acuoso/parasitología , Agudeza Visual/fisiología , ADN Protozoario/análisis , Glucocorticoides/uso terapéutico , Lupus Eritematoso Sistémico/diagnóstico , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/tratamiento farmacológico , Infecciones Parasitarias del Ojo/diagnóstico , Infecciones Parasitarias del Ojo/tratamiento farmacológico , Infecciones Parasitarias del Ojo/parasitología , Síndrome Antifosfolípido/diagnóstico , Síndrome Antifosfolípido/tratamiento farmacológico , Síndrome Antifosfolípido/complicaciones , Reacción en Cadena de la PolimerasaRESUMEN
OBJECTIVES: Leprosy is a chronic granulomatous disease caused by Mycobacterium leprae. Less frequently, there is involvement of the musculoskeletal system, and occurrence of systemic manifestation with non-specific symptoms such as fever, fatigue and myalgia. Therefore, leprosy can often mimic autoimmune diseases such as arthritis, vasculitis, or collagenosis and be mis-diagnosed. METHODS: This study describes a series of cases of leprosy mimicking autoimmune diseases in patients treated in the Rheumatology Department of our centre in the period 2019 to 2023. All patients were investigated regarding leprosy criteria and had clinical evaluation, serum markers, and histopathological analyses recorded. The diagnosis of leprosy was confirmed using skin biopsy followed by testing for acid-fast bacillus (AFB) or smear microscopy. RESULTS: Six patients who were initially investigated for autoimmune diseases were identified as diagnosed as leprosy cases, fulfilling both clinical and histopathologic criteria, two of whom presented with symptoms of polyarthritis with an inflammatory characteristic, two diffuse erythematous-violaceous lesions, three recurrent fever, three arthralgia, and one Raynaud's phenomenon, which are all characteristics present most frequently in rheumatologic diseases. CONCLUSIONS: We must consider the bacillary infection as a differential diagnosis of autoimmune diseases. Histopathological analysis is an important tool and the gold standard for diagnostic confirmation.
Asunto(s)
Artritis , Enfermedades Autoinmunes , Lepra , Humanos , Lepra/diagnóstico , Lepra/tratamiento farmacológico , Lepra/microbiología , Mycobacterium leprae , Piel/patología , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/patologíaRESUMEN
PURPOSE: To assess the prevalence of autoimmune diseases (ADs) associated with ocular cicatricial pemphigoid (OCP) and analyze clinical, laboratory, and treatment associations between these entities. METHODS: A multicentre cross-sectional study of patients with an OCP diagnosis. The population was divided into two groups according to their association with other ADs or not. Clinical, laboratory and treatment variables were described and compared between groups. A multivariable logistic regression analysis was performed to identify variables that could suggest the association between OCP and ADs. RESULTS: Eighty-eight patients were recruited, with a mean age at diagnosis of 64.3 years (SD 11.9). Biopsy was performed in 86.8% of the patients. There was a median delay of 2 years from the onset of symptoms to diagnosis. Extraocular involvement was evidenced in 11.5%. The group associated with ADs included 24 patients (27.3%). The most prevalent diagnosis was Sjögren´s syndrome. Hypergammaglobulinemia was associated with ADs and OCP, adjusted for age, sex, smoking, skin and mucosal involvement, and erythrocyte sedimentation rate (OR 8.7; 95%CI 1.6-46.8; p = 0.012). CONCLUSIONS: Due to OCP's autoimmune nature, it could coexist with other ADs. This study observed that more than a quarter of the population presented with this association, and hypergammaglobulinemia could suggest it.
Asunto(s)
Enfermedades Autoinmunes , Penfigoide Benigno de la Membrana Mucosa , Síndrome de Sjögren , Humanos , Persona de Mediana Edad , Penfigoide Benigno de la Membrana Mucosa/complicaciones , Penfigoide Benigno de la Membrana Mucosa/diagnóstico , Estudios Transversales , Hipergammaglobulinemia , Enfermedades Autoinmunes/complicaciones , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/epidemiologíaAsunto(s)
Enfermedades Autoinmunes , Enfermedad Relacionada con Inmunoglobulina G4 , Humanos , Enfermedad Relacionada con Inmunoglobulina G4/diagnóstico , Enfermedad Relacionada con Inmunoglobulina G4/epidemiología , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/epidemiología , Inmunoglobulina G , Comorbilidad , HospitalizaciónRESUMEN
Las pruebas de función tiroidea (PFT) son esenciales para el diagnóstico preciso y el seguimiento eficaz de la disfunción tiroidea. Existe un incremento progresivo y estable de los pedidos de PFT, incluso se han incorporado las mismas a los exámenes de salud anuales en niños sanos. Representan más del 60% de las pruebas realizadas en el laboratorio de endocrinología, tanto en adultos como en los laboratorios especializados en pediatría. Para hacer un uso eficiente de las PFT, antes de solicitarlas debemos preguntarnos ¿Para quién? ¿Cuándo solicitarlas? ¿Qué pruebas solicitar? ¿Cómo solicitarlas? y ¿Cómo interpretar correctamente los resultados? Un resultado anormal en las PFT no siempre implica patología tiroidea asociada. Las PFT tienen importante variabilidad intra e interindividual lo que hace más compleja su correcta interpretación. La pesquisa de enfermedad tiroidea neonatal es un importante aporte a la prevención de la deficiencia mental en la infancia, su aplicación obligatoria posibilita un diagnóstico temprano, para asegurar su éxito debe considerarse en el marco de un programa integral de detección con estrategias de confirmación, tratamiento temprano y seguimiento a corto, mediano y largo plazo. No debe hacerse un uso indiscriminado de la prueba de estímulo con TRH en el diagnóstico de la patología tiroidea. En pediatría la estrategia de tamiz de enfermedad tiroidea es conveniente realizarla mediante la medición de por lo menos TSH y T4 libre e incluir la determinación de ATPO en grupos de riesgo, a diferencia de la determinación aislada de TSH como es recomendado en adultos. (AU)
Thyroid function tests (TFTs) are essential for accurate diagnosis and effective monitoring of thyroid dysfunction. There is a progressive and steady increase in requests for TFTs, and they have even been incorporated into annual health examinations in healthy children. They represent more than 60% of the tests performed in the endocrinology laboratory, both in adults and in specialized pediatric laboratories. To efficiently use TFTs, before requesting them we should ask ourselves... For whom? When to request them? Which tests to request? How to request them? and How to correctly interpret the results? An abnormal TFT result does not always imply thyroid disease. TFTs have significant intra- and inter-individual variability, which makes their correct interpretation more complex. Screening for newborn thyroid disease is an important contribution to the prevention of intellectual disability in childhood and its mandatory use enables early diagnosis; however, to ensure the test to be successful, it should be considered within the framework of a comprehensive screening program with strategies for confirmation, early treatment, and short-, medium-, and long-term follow-up. The TRH stimulation test in the diagnosis of thyroid disease should not be used indiscriminately. In children, the screening strategy for thyroid disease should be performed by measuring at least TSH and free T4 and include the measurement of TPO-ab in risk groups, as opposed to the isolated measurement of TSH as recommended in adults. (AU)
Asunto(s)
Humanos , Recién Nacido , Lactante , Preescolar , Niño , Adolescente , Enfermedades Autoinmunes/diagnóstico , Pruebas de Función de la Tiroides/tendencias , Pruebas de Función de la Tiroides/estadística & datos numéricos , Tirotropina/sangre , Técnicas de Diagnóstico Endocrino/tendencias , Hipertiroidismo/diagnóstico , Hipotiroidismo/diagnóstico , Procedimientos InnecesariosRESUMEN
Las enfermedades autoinflamatorias (AIDs) son un grupo heterogéneo de desórdenes monogénicos o poligénicos, con características de disregulación inmune innata y/o adaptativa, cuyo mecanismo central es la autoinflamación pero también pueden presentarse con autoinmunidad e inmunodeficiencia. En estos últimos años el desarrollo de las tecnologías de secuenciación masiva han provocado una explosión en el descubrimiento de nuevos genes responsables de AIDs monogénicas. Esto remarca la importancia de implementar este tipo de estudios para llegar a un diagnóstico definitivo sobre todo en este grupo de patologías genéticamente muy diversas donde los fenotipos clínicos se solapan. Sin embargo, dada la presencia de variantes de significación incierta (VUS), los resultados pueden no ser concluyentes planteándose la necesidad de desarrollar pruebas funcionales para determinar la patogenicidad de dichas variantes genéticas. En nuestro grupo de trabajo estamos aplicando la PCR digital en gotas (ddPCR), una técnica cuantitativa de 3era generación altamente sensible, especifica y reproducible que no necesita de curvas de calibración, para desarrollar pruebas funcionales que permitan no sólo reclasificar variantes VUS para lograr diagnósticos definitivos sino también estudiar los mecanismos responsables de las principales AIDs que permitan una estratificación de las terapéuticas especificas a aplicar y de esta manera poder contribuir al diagnóstico, tratamiento y seguimiento de nuestros pacientes en forma personalizada. (AU)
Autoinflammatory diseases (AIDs) are a heterogeneous group of monogenic or polygenic disorders, with characteristics of inborn and/or adaptive immune dysregulation, whose central mechanism is autoinflammation but may also present with autoimmunity and immunodeficiency. In recent years the development of massive sequencing technologies has led to an exponential increase in the discovery of new genes responsible for monogenic AIDs. This emphasizes the importance of the implementation of this type of studies to make a definitive diagnosis, especially in this group of genetically very diverse diseases with overlapping clinical phenotypes. However, given the presence of variants of uncertain significance (VUS), the results may not be conclusive, raising the need to develop functional tests to determine the pathogenicity of these genetic variants. In our working group we are applying droplet digital PCR (ddPCR), a highly sensitive, specific and reproducible third generation quantitative technique that does not require calibration curves, to develop functional tests that allow not only to reclassify VUS variants to achieve definitive diagnoses but also to study the mechanisms responsible for the main AIDs that allow for the stratification of specific treatments to be used and thereby contribute to the individualized diagnosis, treatment, and follow-up of our patients (AU)
Asunto(s)
Humanos , Masculino , Femenino , Niño , Adolescente , Enfermedades Autoinmunes/diagnóstico , Terapéutica/instrumentación , Reacción en Cadena de la Polimerasa/métodos , Enfermedades Autoinflamatorias Hereditarias/diagnóstico , Enfermedades Autoinflamatorias Hereditarias/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Laboratorios de HospitalRESUMEN
Background: The indiscriminate application of substances for aesthetic purposes, such as silicone in breast implants, leads to the production of common local signs such as inflammation, skin irregularities, edema, erythema, vascular neoformations, and ulcers, which can evolve into general symptoms such as fever, asthenia, weakness, arthralgia or activate the immune system abnormally, causing the appearance of autoimmune diseases. This set of signs and symptoms is called adjuvant-induced autoimmune/inflammatory syndrome. Clinical case: We present the case of a 50-year-old woman with a history of silicone-based breast implants who spontaneously developed a hemorrhagic coagulopathy, type A acquired hemophilia was documented, that is, autoantibodies against coagulation factor VIII. Thanks to the work of a multidisciplinary team, it is possible to successfully diagnose and treat the patient with bridging agents, implant removal and management of associated symptoms. Conclusion: the importance of knowing the pathology is recognized, which, although it is rare, when it occurs has a high mortality rate if it is not diagnosed and treated on time.
Introducción: la aplicación de sustancias con fines estéticos de forma indiscriminada, como es el caso de la silicona en los implantes mamarios, llevan a la producción de signos locales comunes como: inflamación, irregularidad en la piel, edema, eritema, neoformaciones vasculares y úlceras, que pueden evolucionar a síntomas generales como la fiebre, astenia, adinamia, artralgias o a activar, de manera anómala, el sistema inmunitario, causando la aparición de enfermedades autoinmunitarias. A este conjunto de signos y síntomas se le denomina síndrome autoinmunitario/inflamatorio inducido por adyuvantes. Caso clínico: presentamos el caso de una mujer de 50 años con antecedente de implantes mamarios a base de silicona que desarrolla, de manera espontánea, una coagulopatía hemorrágica, se documenta hemofilia tipo A adquirida, es decir, autoanticuerpos contra el factor VIII de la coagulación. Gracias al trabajo de un equipo multidisciplinario se consigue diagnosticar y tratar de manera exitosa a la paciente con agentes de puente, remoción de los implantes y manejo de los síntomas asociados. Conclusión: se reconoce la importancia de conocer la patología que, si bien es rara, cuando se presenta tiene alta tasa de mortalidad si no se diagnostica y trata a tiempo.
Asunto(s)
Enfermedades Autoinmunes , Implantes de Mama , Femenino , Humanos , Persona de Mediana Edad , Implantes de Mama/efectos adversos , Síndrome , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/etiología , Inflamación/complicaciones , Adyuvantes Inmunológicos/efectos adversos , Siliconas/efectos adversosRESUMEN
INTRODUCTION: For the diagnosis of liver diseases, clinical criteria, biochemical, immunological and histological parameters are included. The autoimmune panel is an immunoblot that contemplates the detection of antibodies against 9 different hepatic antigens, which could guide the diagnosis of these pathologies. OBJECTIVE: To describe the usefulness of the autoimmune panel in the diagnosis of liver diseases. Methods: Observational, descriptive study. All autoimmune panels performed between January 2020 and August 2021 (n = 279) were reviewed, and the ones with positive result selected (n = 101). Clinical records were reviewed, including: clinical, biochemical, immunological and histological characteristics. Diagnosis was determined by clinical suspicion (clinical, biochemical and immunological parameters), only through autoimmune panel, and according to liver biopsy in available cases. RESULTS: 45 patients with complete clinical history were included in the analysis; 82% women, median age 58 years (16-79). Clinical suspicions included autoimmune hepatitis (AIH) in 12 patients (27%), primary biliary cholangitis (PBC) in 10 patients (22%), overlap syndrome (AIH/PBC) in 17 (38%), and others in 6 (13%). The diagnosis of PBC was confirmed by autoimmune panel in 9/10 and 11/17 patients with clinical suspicion of PBC and HAI/PBC, respectively. Of the 27 patients with initial clinical suspicion of PBC, 14 had negative AMA and AMA-M2 (6 had Sp100 and 5 gp210 as the only markers and 3 had positive Sp100 and PML). In 10/14 patients, the diagnosis was confirmed by panel and/or compatible liver biopsy. CONCLUSION: The autoimmune panel turns out to be a useful diagnostic tool for liver diseases, especially PBC in isolation or in overlap syndrome.
Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Adulto , Persona de Mediana Edad , Anciano , Adulto Joven , Autoanticuerpos/sangre , Immunoblotting/métodos , Hepatitis Autoinmune/diagnóstico , Hepatitis Autoinmune/inmunología , Hepatitis Autoinmune/sangre , Hepatopatías/diagnóstico , Hepatopatías/inmunología , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/inmunología , Enfermedades Autoinmunes/sangre , Cirrosis Hepática Biliar/diagnóstico , Cirrosis Hepática Biliar/inmunología , Cirrosis Hepática Biliar/sangreRESUMEN
OBJECTIVES: To compare pain intensity among individuals with idiopathic inflammatory myopathies (IIMs), other systemic autoimmune rheumatic diseases (AIRDs), and without rheumatic disease (wAIDs). METHODS: Data were collected from the COVID-19 Vaccination in Autoimmune Diseases (COVAD) study, an international cross-sectional online survey, from December 2020 to August 2021. Pain experienced in the preceding week was assessed using numeral rating scale (NRS). We performed a negative binomial regression analysis to assess pain in IIMs subtypes and whether demographics, disease activity, general health status, and physical function had an impact on pain scores. RESULTS: Of 6988 participants included, 15.1% had IIMs, 27.9% had other AIRDs, and 57.0% were wAIDs. The median pain NRS in patients with IIMs, other AIRDs, and wAIDs were 2.0 (interquartile range [IQR] = 1.0-5.0), 3.0 (IQR = 1.0-6.0), and 1.0 (IQR = 0-2.0), respectively (P < 0.001). Regression analysis adjusted for gender, age, and ethnicity revealed that overlap myositis and antisynthetase syndrome had the highest pain (NRS = 4.0, 95% CI = 3.5-4.5, and NRS = 3.6, 95% CI = 3.1-4.1, respectively). An additional association between pain and poor functional status was observed in all groups. Female gender was associated with higher pain scores in almost all scenarios. Increasing age was associated with higher pain NRS scores in some scenarios of disease activity, and Asian and Hispanic ethnicities had reduced pain scores in some functional status scenarios. CONCLUSION: Patients with IIMs reported higher pain levels than wAIDs, but less than patients with other AIRDs. Pain is a disabling manifestation of IIMs and is associated with a poor functional status.
Asunto(s)
Enfermedades Autoinmunes , COVID-19 , Miositis , Enfermedades Reumáticas , Humanos , Femenino , Estudios Transversales , Vacunas contra la COVID-19 , Autoanticuerpos , COVID-19/complicaciones , Miositis/diagnóstico , Miositis/epidemiología , Miositis/complicaciones , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/epidemiología , Enfermedades Autoinmunes/complicaciones , Enfermedades Reumáticas/diagnóstico , Enfermedades Reumáticas/epidemiología , Enfermedades Reumáticas/complicacionesRESUMEN
AIM: A cross-sectional descriptive study to determine the frequency of ocular manifestations associated with systemic autoimmune diseases in a third-level hospital in Mexico. METHODS: Records from 2014 to 2017 at the Inflammatory Eye Disease Clinic of the Asociación Para Evitar la Cegueraen México were examined by both an ophthalmologist and a rheumatologist on the same day. Diagnosis was achieved from initial ocular manifestations with later systemic assessment. RESULTS: Out of 311 medical records, 276 were included, 75% of the patients were female. Keratoconjunctivitis sicca was the most frequent ocular manifestation (33.3%), followed by anterior uveitis (29.5%), scleritis (23.2%), and peripheral ulcerative keratitis (7.2%). The leading autoimmune diseases were spondyloarthritis (29%), rheumatoid arthritis (28.6%), primary Sjögren's syndrome (10.5%) and granulomatosis with polyangiitis (9.1%). 41.3% of systemic disease diagnoses were made after an initial ocular manifestation. CONCLUSIONS: Inflammatory eye manifestations can imply systemic autoimmune diseases. It is crucial to suspect and confirm this association and provide timely interdisciplinary management.
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Enfermedades Autoinmunes , Enfermedades de la Conjuntiva , Oftalmopatías , Oftalmología , Reumatología , Humanos , Femenino , Masculino , Estudios Transversales , México/epidemiología , Oftalmopatías/diagnóstico , Oftalmopatías/epidemiología , Oftalmopatías/etiología , Enfermedades Autoinmunes/complicaciones , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/epidemiología , Trastornos de la VisiónRESUMEN
INTRODUCTION: Bamboo nodes are transverse creamy-yellow subepithelial nodes in the vocal folds (VF) midpoint, usually bilateral, resembling a bamboo stem. They appear almost exclusively in females, and are associated with underlying autoimmune diseases. CASE SUMMARY: Six female patients, 45.5 years median age, with underlying autoimmune diseases, consulted due to dysphonia. The laryngeal stroboscopy showed bilateral VF bamboo nodes in four patients, and unilateral in the remaining two. VF mobility was normal in all patients, while the mucosal wave was impaired in four of them. Treatment with speech therapy and proton pump inhibitors was indicated. All the patients were referred for rheumatologic evaluation and immunosuppressive treatment optimization. Follow-up in five patients showed vocal function self-perception and GRBAS scores improvement. DISCUSSION: VF bamboo nodes are an infrequent cause for dysphonia, associated with phonotrauma and autoimmune diseases. Speech therapy and a rheumatologic workup must be indicated, for immunosuppressive treatment enhancement.
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Artritis Reumatoide , Enfermedades Autoinmunes , Disfonía , Enfermedades de la Laringe , Humanos , Femenino , Disfonía/diagnóstico , Disfonía/etiología , Disfonía/terapia , Enfermedades Autoinmunes/complicaciones , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/terapia , Pliegues Vocales , Enfermedades de la Laringe/diagnóstico , Enfermedades de la Laringe/terapia , Enfermedades de la Laringe/etiología , Inmunosupresores/uso terapéutico , Artritis Reumatoide/complicacionesRESUMEN
INTRODUCTION: For the diagnosis of liver diseases, clinical criteria, biochemical, immunological and histological parameters are included. The autoimmune panel is an immunoblot that contemplates the detection of antibodies against 9 different hepatic antigens, which could guide the diagnosis of these pathologies. OBJECTIVE: To describe the usefulness of the autoimmune panel in the diagnosis of liver diseases. METHODS: Observational, descriptive study. All autoimmune panels performed between January 2020 and August 2021 (n = 279) were reviewed, and the ones with positive result selected (n = 101). Clinical records were reviewed, including: clinical, biochemical, immunological and histological characteristics. Diagnosis was determined by clinical suspicion (clinical, biochemical and immunological parameters), only through autoimmune panel, and according to liver biopsy in available cases. RESULTS: 45 patients with complete clinical history were included in the analysis; 82% women, median age 58 years (16-79). Clinical suspicions included autoimmune hepatitis (AIH) in 12 patients (27%), primary biliary cholangitis (PBC) in 10 patients (22%), overlap syndrome (AIH/PBC) in 17 (38%), and others in 6 (13%). The diagnosis of PBC was confirmed by autoimmune panel in 9/10 and 11/17 patients with clinical suspicion of PBC and HAI/PBC, respectively. Of the 27 patients with initial clinical suspicion of PBC, 14 had negative AMA and AMA-M2 (6 had Sp100 and 5 gp210 as the only markers and 3 had positive Sp100 and PML). In 10/14 patients, the diagnosis was confirmed by panel and/or compatible liver biopsy. CONCLUSION: The autoimmune panel turns out to be a useful diagnostic tool for liver diseases, especially PBC in isolation or in overlap syndrome.
Asunto(s)
Autoanticuerpos , Hepatitis Autoinmune , Immunoblotting , Hepatopatías , Humanos , Femenino , Autoanticuerpos/sangre , Masculino , Persona de Mediana Edad , Adulto , Anciano , Adolescente , Adulto Joven , Immunoblotting/métodos , Hepatitis Autoinmune/inmunología , Hepatitis Autoinmune/diagnóstico , Hepatitis Autoinmune/sangre , Hepatopatías/inmunología , Hepatopatías/diagnóstico , Cirrosis Hepática Biliar/inmunología , Cirrosis Hepática Biliar/diagnóstico , Cirrosis Hepática Biliar/sangre , Enfermedades Autoinmunes/inmunología , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/sangreRESUMEN
INTRODUCTION: Since 1980, there have been known cases of childhood neuropsychiatric syndromes in the world and its concept has evolved with changes in the definitions in 1995 (PITANDs - paediatric infection-triggered autoimmune neuropsychiatric disorders), 1998 (PANDAS - paediatric autoimmune neuropsychiatric syndrome associated with streptococci infection), 2010 (PANS - paediatric acute-onset neuropsychiatric syndrome) and 2012 (CANS - childhood acute neuropsychiatric syndrome). Despite being known for more than 20 years, it is still an illness that often goes unnoticed by many health professionals. OBJECTIVE: To sensitise the medical community about the identification of the disease and reduce the morbidity associated with a late diagnosis. CLINICAL CASE: A 6-year-old schoolgirl brought to the emergency department due to her refusal to eat. In the hospital treatment, a clinical history was identified with PANS-PANDAS diagnostic criteria. She exhibited a relapsing-remitting clinical course, as described in the literature, with poor response to first-line treatments. CONCLUSIONS: In all school-age child presenting with obsessive compulsive disorder or eating disorders, with other symptoms or not, a possible link to PANS-CANS should be evaluated and ruled out.