Exploring the link between inflammatory myopathies and cancer: A comprehensive retrospective analysis in a Colombian cohort.

BACKGROUND: This study investigates the association between inflammatory myopathies (IM), and their correlation with cancer. There are several potential causes behind the association of cancer and inflammatory myopathies. The positivity of specific antibodies for myositis plays a significant role. Our objective is to describe cancer and inflammatory myopathies in Colombia, focusing on demographics, clinical characteristics, and laboratory data. METHODS: We retrospectively analyzed 112 IM patients diagnosed at Fundación Valle del Lili in Cali, Colombia, the cases met the EULAR/ACR criteria. Data included demographics, clinical signs, laboratory findings, and malignancy. Malignancy associations were explored using logistic regression. The survival analysis was assessed using Kaplan-Meier curves and the Log-Rank test. RESULTS: Dermatomyositis was the most common subtype (45.5%), with a female predominance (66.1%). Cancer diagnosis occurred in 11.6% of cases, predominantly thyroid cancer. The median time from myopathy onset to cancer diagnosis was 11 months, with 75% of cases within the first year. Bivariate analysis indicated associations between cancer and age, Gottron's papules, digital ulcers, and heliotrope rash. However, multivariate analysis identified age as the only significant malignancy risk factor. Survival analysis showed better rates in younger patients. CONCLUSION: This study provides into the link between IM and cancer in the Colombian population. Thyroid cancer predominated, with a slightly higher proportion of female cancer diagnoses. Age emerged as a significant risk factor for malignancy. Understanding this association is crucial for early detection and improving patient outcomes related to IM-associated malignancies.

Autoimmune/inflammatory syndrome induced by adjuvants (ASIA), medical treatment of severe systemic compromise: case report

Case description: A 42-year-old woman with severe pulmonary and mediastinal inflammatory involvement, secondary to infiltration of a silicone-related allogenic material with systemic migration. Clinical findings: The patient developed esophageal and bronchial stenosis, recurrent infections, malnutrition, and respiratory deterioration, making surgical removal of the allogenic material impossible. Treatment and outcome: Clinical and radiological improvement was achieved after treatment with multiple intravenous and oral immunomodulators. Clinical relevance: Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) is a heterogeneous disease resulting from exposure to allogenic substances in a susceptible subject. These substances cause autoimmune or autoinflammatory phenomena. Since ASIA was described ten years ago, its diagnostic criteria are still under discussion, with an uncertain prognosis. The ideal therapy is based on eliminating the causative substance, but this is not always possible. Therefore, it is necessary to start an immunomodulatory treatment, using it in this patient, a scheme that had not been previously reported in the literature.

Descripción del caso: Mujer de 42 años con compromiso inflamatorio pulmonar y mediastinal severo, secundario a infiltración de un material alogénico relacionado con la silicona con migración sistémica. Hallazgos clínicos: La paciente desarrolló estenosis esofágica y bronquial, infecciones recurrentes, desnutrición y deterioro respiratorio, imposibilitando la extracción quirúrgica del material alogénico. Tratamiento y resultado: Mejoría clínica y radiológica lograda tras un tratamiento con múltiples inmunomoduladores intravenosos y orales. Relevancia clínica: El síndrome autoinmune / inflamatorio inducido por adyuvantes (ASIA) es una enfermedad heterogénea que resulta de la exposición a sustancias alógenas en un sujeto con susceptibilidad genética. Estas sustancias inducen fenómenos autoinmunitarios o autoinflamatorios. Desde que ASIA fue descrito hace 10 años, sus criterios diagnósticos continúan en discusión, con un pronóstico incierto. El tratamiento idóneo se basa en eliminar la sustancia causante, pero no siempre es posible, por lo cual se hace necesario iniciar un tratamiento inmunomodulador, empleándose en esta paciente un esquema que no había sido reportado previamente en la literatura.

TAFRO syndrome mimicking systemic lupus erythematosus: Case report and literature review

TAFRO syndrome is a very rare disease, with less than 100 cases reported in the literature. It is classified as a type of idiopathic multicentric Castleman disease, but it has clinical, paraclinical, and histopathological characteristics that differentiate between TAFRO and idiopathic forms of Castleman disease not otherwise specified. However, it is a challenging exclusion diagnosis. TAFRO syndrome is characterized by systemic inflammatory involvement, often severe, which can present with kidney failure, and become a severe disease with a high mortality rate. The clinical manifestations of TAFRO can be confused with hematology malignancies or various autoimmune diseases. Although there are some reports of TAFRO syndrome associated with autoimmune compromise, there is no published consensus for the diagnosis or treatment. The case presented is a patient who meets the criteria to be classified as SLE, and with manifestations with significant clinical involvement, but with no improvement with standard treatment. It was found that the patient's systemic involvement was due to TAFRO, and that therefore the TAFRO syndrome could simulate SLE, something previously not described in the literature.

El síndrome TAFRO es una enfermedad muy poco común, con menos de 100 casos reportados en la literatura. Se clasifica como un tipo de enfermedad de Castleman multicéntrica idiopática, pero tiene características clínicas, paraclínicas e histopatológicas que permiten diferenciarla de las formas de la enfermedad Castleman idiopática no clasificadas de otra manera; sin embargo, es un diagnóstico de exclusión difícil de hacer. El síndrome TAFRO se caracteriza por compromiso inflamatorio sistémico, en muchas ocasiones severo, que puede presentarse con falla renal y convertirse en una enfermedad grave, con una alta tasa de mortalidad. Las manifestaciones clínicas de TAFRO pueden confundirse con neoplasias hematológicas o varias enfermedades autoinmunes. En la literatura existen algunos reportes de síndrome TAFRO asociados con compromiso autoinmune, pero no se ha publicado un consenso para su diagnóstico ni para su tratamiento. El caso que se presenta es un paciente que cumple con los criterios para ser clasificado como LES, que tenía manifestaciones con gran compromiso clínico, pero sin mejoría con el tratamiento estándar. Se encontró que el compromiso sistémico del paciente era por TAFRO y que, por lo tanto, el síndrome TAFRO podría simular LES, algo no descrito previamente en la literatura.

Epidemiological characterization of patients with sarcoidosis in a high complexity hospital in southwestern Colombia

Introduction: Epidemiological studies on sarcoidosis in Colombia are scarce, and although recent reports from the north of the country have been published, clinical-epidemiological associations are not clear. Our aim was to characterize patients with sarcoidosis diagnosed at Fundación Valle del Lili in Cali, Colombia. Methods: A retrospective study of a series of sarcoidosis cases was conducted between 2011 and 2019. Demographic, clinical, laboratory, imaging, histopathological, and treatment variables were analyzed. Results: A total of 34 patients with a diagnosis of sarcoidosis were found. The majority were women (n = 25; 73%), and the mean age was 50 years. The main symptoms of onset were erythema nodosum (n = 11; 33%), arthritis (n = 10; 30%), and cough (n = 9; 27%). In 64% of the cases, there was pulmonary involvement, with pulmonary nodules, mediastinal adenopathy, and interstitial lung disease found in 54%, 50%, and 36% of cases, respectively. In 85% of cases, there were extrapulmonary manifestations, mainly cutaneous (50%). Angiotensin-converting enzyme (ACE) was elevated in 62% of the cases in which it was measured (n = 16; 47%). During the diagnostic process, 23 biopsies were performed, of which 95% showed granulomas with noncaseating necrosis. Most of the patients (76%) were controlled with prednisolone, at an average dose of 20 mg (7.5-50 mg) per day. Conclusions: Sarcoidosis was more frequent in women and mestizos, and it presented earlier in men. Elevated ACE was not associated with extrapulmonary involvement. Calcium-phosphorus profile and antinuclear antibodies were not useful to establish the diagnosis.

Introducción: En Colombia son escasos los estudios epidemiológicos sobre la sarcoidosis; aunque recientemente se han publicado reportes del norte del país, son grupos muestrales pequeños, por lo que no quedan claras las asociaciones clínico-epidemiológicas. Nuestro objetivo fue caracterizar pacientes con sarcoidosis en la Fundación Valle del Lili, en Cali, Colombia. Métodos: Se realizó un estudio retrospectivo de una serie de casos de sarcoidosis entre el 2011 y el 2019. Se analizaron variables demográficas, clínicas, de laboratorio, imagenológicas, histopatológicas y de tratamiento. Resultados: Se encontraron 34 pacientes con diagnóstico de sarcoidosis, la mayoría fueron mujeres (n = 25; 73%), y la edad promedio fue 50 anos. Los principales síntomas de inicio fueron eritema nudoso (n = 11; 33%), artritis (n = 10; 30%) y tos (n = 9; 27%). En el 64% de los casos hubo compromiso pulmonar, y se encontraron nódulos pulmonares, adenopatías mediastinales y enfermedad pulmonar intersticial en un 54, 50 y 36% de los casos, respectivamente. En el 85% de los casos hubo manifestaciones extrapulmonares, principalmente cutáneas (50%). Los niveles de enzima conversora de angiotensina estuvieron elevados en el 62% de los casos en los que fue medida (n = 16; 47%). Durante el proceso diagnóstico se realizaron 23 biopsias, de las cuales el 95% evidenció granulomas con necrosis no caseificante. La mayoría de los pacientes (76%) fueron controlados con prednisolona, a una dosis promedio de 20 mg (7,5-50 mg) por día. Conclusiones: La sarcoidosis fue más frecuente en mujeres y mestizos. La presentación fue más temprana en hombres. La enzima conversora de angiotensina no se relacionó con compromiso extrapulmonar. Ni el perfil fósforo-calcio ni los anticuerpos antinucleares fueron útiles para establecer el diagnóstico.

Clinical Characteristics and Outcomes of Patients With ANCA-Associated Vasculitides in a Colombian Hospital.

BACKGROUND/OBJECTIVE: Antineutrophil cytoplasmic antibody-associated vasculitides (AAVs) are uncommon systemic autoimmune diseases, of which few reports exist in Latin America. Our aim was to examine AAV evaluated in a high-complexity hospital in southwestern Colombia, with emphasis in severe forms. METHODS: A medical records review study of 67 patients was performed, and data were collected from electronic registries. Moderate and severe AAVs were defined as the presence of life-threatening complications, unfavorable Birmingham Vasculitis Activity Score outcomes, and hospitalization requirements at the time of diagnosis and by the last follow-up, between 2011 and 2019. Clinical manifestations, treatment, and outcomes were evaluated. The AAV subtypes were compared. RESULTS: A total of 67 cases were included. The majority were female (n = 44, 65.67%), and the median age was 52 (40-64) years. Granulomatosis with polyangiitis (GPA) was the most frequent with 42 patients (62.68%), followed by microscopic polyangiitis (MPA) and eosinophilic GPA, with 15 patients (22.38%) and 10 patients (14.92%), respectively. Forty-four patients (65.67%) presented pulmonary symptoms. The highest Birmingham Vasculitis Activity Score corresponded to MPA, with 21 (12-25) points. Fifteen patients (22.4%) were admitted to the intensive care unit throughout the course of the disease, of whom 10 had GPA. The longest stay and duration of mechanical ventilation were seen in MPA. The principal treatments were corticosteroids and cyclophosphamide, and the main outcome was end-stage renal disease. CONCLUSIONS: In this cohort of AAV, most of cases corresponded to GPA, and pulmonary manifestations were the most common. Microscopic polyangiitis was the more severe subtype as it showed worse impairment in clinical characteristics and intensive care unit requirements.

Lesión miocárdica en una paciente con lupus eritematoso sistémico: Un reto diagnóstico / Myocardial lesion in a patient with systemic lupus erythematosus: A diagnostic challenge

Resumen Mujer de 37 años con antecedentes de lupus eritematoso sistémico (LES), tromboembolia pulmonar y trombosis venosa profunda, quien consultó por dolor torácico, con hallazgos de elevación de la troponina, disfunción sistólica del ventrículo izquierdo y alteraciones de la contractilidad segmentaria, además de anti-DNA elevado y complemento consumido. La angiografía coronaria mostró estenosis grave en el tercio medio de la arteria descendente anterior, que fue intervenida con angioplastia más stent medicado. La resonancia magnética cardiaca reveló infarto agudo de miocardio extenso en el territorio de la arteria descendente anterior, sin miocarditis. Se descartó compromiso cardiaco por LES, se continuó igual terapia inmunosupresora, se añadió manejo para enfermedad coronaria y egresó por buena evolución. El enfoque de las causas de lesión miocárdica en un paciente con LES supone un reto, dadas las múltiples posibilidades en el espectro de compromiso cardiaco, ya que varias estructuras se pueden ver afectadas. La miocarditis y la pericarditis se consideran las más frecuentes, pero el compromiso coronario no puede descartarse, independientemente de la edad y de la presencia de factores de riesgo tradicionales, puesto que el componente inflamatorio de la patología autoinmunitaria confiere un desarrollo acelerado de ateroesclerosis. La multimodalidad diagnóstica y el enfoque interdisciplinario son necesarios para aclarar el mecanismo de la lesión y así brindar un tratamiento dirigido.

Abstract A 37-year-old woman with a history of systemic lupus erythematosus (SLE), pulmonary thromboembolism and deep vein thrombosis consulted for chest pain, with findings of elevated troponin, left ventricular systolic dysfunction, and segmental contractility abnormalities, as well as elevated anti-DNA and complement consumption. Coronary angiography showed severe stenosis of the middle third of the anterior descending artery, which was treated with angioplasty plus a medicated stent. Cardiac magnetic resonance imaging revealed an extensive acute myocardial infarction in the area supplied by the anterior descending artery, without myocarditis. Cardiac involvement in SLE was ruled out, immunosuppressive treatment was maintained, coronary disease treatment was added, and she was discharged due to improvement. Identifying the causes of myocardial insult in a patient with SLE is challenging, given the multiple possibilities across the cardiac involvement spectrum, in which several structures may be affected. Myocarditis and pericarditis are considered to be the most frequent, but coronary involvement cannot be ruled out, regardless of age or the presence of traditional risk factors, since the inflammatory component of the autoimmune disease accelerates the development of atherosclerosis. Multimodal diagnostics and an interdisciplinary approach are necessary to clarify the mechanism of injury and provide targeted treatment.

Síndrome sarcoidosis-linfoma. Presentación de 2 casos clínicos / Sarcoidosis-lymphoma syndrome. Presentation of 2 clinical cases

RESUMEN La combinación de sarcoidosis y linfoma (síndrome sarcoidosis-linfoma) es una asociación poco frecuente pero reconocida en el ámbito clínico. Algunas manifestaciones pueden ser comunes entre estas entidades, por lo que es un reto para el clínico diferenciar cada enfermedad por separado o si coexisten en un mismo individuo. En este último escenario, ni las manifestaciones clínicas ni los parámetros de laboratorio son específicos, por lo que es necesario un análisis minucioso de cada caso, apoyado de laboratorios, imágenes e histopatología para llegar a un diagnóstico certero. Se presentan 2 casos de síndrome sarcoidosis-linfoma y se analizan los aspectos clave en el diagnóstico de esta forma clínica.

ABSTRACT The combination of sarcoidosis and lymphoma (sarcoidosis-lymphoma syndrome) is a rare but recognised clinical condition. Some manifestations may be common among these conditions, making it a challenge for the clinician to differentiate each disease separately, or if they coexist in the same individual. In this latter scenario, neither the clinical manifestations nor the laboratory parameters are specific, so a meticulous analysis of each case is necessary, supported by laboratory and imaging tests, and histopathology in order to obtain an accurate diagnosis. Two cases of sarcoidosis-lymphoma syndrome are presented, and an analysis is presented on the key aspects in the diagnosis of this clinical condition.

Expression of BAFF, APRIL, and cognate receptor genes in lupus nephritis and potential use as urinary biomarkers.

BACKGROUND: B-cell activating factor (BAFF), a proliferation-inducing ligand (APRIL), and their receptors BAFF-R, BCMA, and TACI are crucial factors for the survival of B lymphocytes. Recent evidence has also demonstrated the importance of BAFF/APRIL signaling in lupus nephritis (LN). This study evaluated the relationships between LN clinical characteristics and the urinary expression levels of BAFF, APRIL, and cognate receptors to assess their potential value as disease biomarkers. METHODS: Expression levels of these genes were assessed in urine samples collected from systemic lupus erythematosus (SLE) patients before renal biopsy using reverse transcription real-time PCR. RESULTS: Thirty-five patients with LN were included. Most of the patients were female (82.86%) with median Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K) of 15. BAFF mRNA was detectable in 28.57%, APRIL mRNA in 42.85%, BR3 mRNA in 48.57%, and TACI mRNA in 42.85% of urine samples. On the other hand, urinary (u)BCMA mRNA was not found in any sample. Urinary expression of most biomarkers was detected with greater frequency in class III and IV LN compared to class V LN. The expression level of uBR3 mRNA was correlated with SLEDAI-2K and histological activity index. CONCLUSION: Urinary expression of BAFF/APRIL signaling factors, especially TACI, APRIL, and BR3 mRNAs, may be useful biomarkers for LN.

Mortality in patients with systemic lupus erythematosus in Colombia: a case series.

INTRODUCTION: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease associated with high mortality rates. This study aimed to describe the main causes of death in a case series of SLE patients attended in a single center in Colombia. METHODS: We conducted a retrospective review and analysis of records of SLE patients who died between January 2011 and June 2017. We extracted the main causes of death and described variables associated with this outcome as well as variables associated with the disease and its treatment. RESULTS: From a total of 1776 patients with SLE, we identified 49 fatal cases (89.8% women, n = 44). The average age at death was 40.6 years (SD 17.4), and patients had a median of 4.5 years (IQR 2-8) of disease duration. The main findings included lymphopenia in 44 patients (89.9%), biopsy-confirmed lupus nephritis (LN)-types IV and VI-in 38 (77.6%), catastrophic antiphospholipid syndrome (CAPS) in 8 (16.3%), and persistent hypocomplementemia (C3 and C4) in 8 (16.3%). The median SLE disease activity index (SLEDAI-2K) score at the time of death was 19 (IQR 11-39). The main cause of death was SLE activity and lupus-induced damage in 22 (44.9%) patients. CONCLUSION: The main causes of death included SLE activity refractory to immunosuppressive treatment, and nosocomial bacterial infections. The patients who died had persistently high SLEDAI scores, types IV and VI LN, associated antiphospholipid syndrome, and persistent hypocomplementemia, requiring severe immunosuppression and prolonged hospitalization.

Sublingual microcirculatory alterations in patients with stable systemic sclerosis / Alteraciones microcirculatorias sublinguales en pacientes con esclerosis sistémica estable

ABSTRACT Introduction: Systemic sclerosis (SSc) is a systemic autoimmune disease characterized by fibrosis, inflammation, and microcirculatory alterations. Objective: To evaluate abnormalities in the sublingual microcirculation of SSc patients and to establish any differences compared to healthy controls. Methods: The sublingual microcirculation was determined using a Sidestream dark-field (SDF) imaging device (MicroScan; MicroVision Medical, Amsterdam, the Netherlands) in patients with SSc and controls. Results: Twelve patients with SSc (75% with diffuse cutaneous SSc) were evaluated (mean age: 52.08 ± 2.08 years). A group of 20 volunteers was used as the control. Significantly lower total capillary density (TCD) (9.2 [8.5-9.7] vs. 10.9 [9.8-12.5]) and functional capillary density (FCD) (7.0 [6.8-7.5] vs. 8.6 [7.5-9.8]) were observed in SSc patients than in healthy controls. Conclusions: SSc is related to significantly lower capillary density in the sublingual microcirculation, and the SDF imaging technique could be an alternative to nailfold video-capillaroscopy for diagnosing and following-up patients with SSc.

RESUMEN Introducción: La esclerosis sistémica (SSc) es una enfermedad autoimmune sistémica caracterizada por fibrosis, inflamación y alteraciones en la microcirculación. Objetivo: Evaluar anormalidades en la microcirculación sublingual de pacientes con diagnóstico de esclerosis sistémica y establecer diferencias en comparación con controles sanos. Métodos: Exploramos la microcirculación sublingual utilizando un dispositivo de imágenes de campo oscuro Sidestream (SDF) (Micro Scan, MicroVision Medical, Amsterdam, Holanda) en pacientes con SSc y controles. Resultados: Se evaluaron 12 pacientes con SSc estable (75% con cutánea difusa) (edad media: 52.08 ± 2.08). Un grupo de 20 voluntarios se utilizó como control. Se observó una disminución significativa en la densidad vascular total (TCD) (9.2 [8.5-9.7] vs. 10.9 [9.8-12.5]) y densidad capilar funcional (FCD) (7.0 [6.8-7.5] vs. 8.6 [7.5-9.8]) observado en pacientes con esclerosis sistémica en comparación con controles sanos. Conclusiones: La SSc se relaciona con la disminución significativa de la densidad capilar en la microcirculación sublingual, esta técnica podría ser una alternativa en pacientes críticos con esclerosis sistémica o utilizarse para seguimiento durante la hospitalización.

Cytokine markers of B lymphocytes in minor salivary gland infiltrates in Sjögren's syndrome.

Sjögren's syndrome (SS) is a chronic autoimmune disorder characterised by the clinical presence of sicca syndrome. SS compromises the dysfunction of exocrine glands due to the presence of focal, mononuclear cell infiltrates that surround the ducts and replace the secretory units. Abnormal expression of different cytokines and chemokines such as B-cell activating factor, CXC Motif Chemokine Ligand 13, interleukin 6 (IL-6), IL-22, and FMS-like tyrosine kinase 3 ligand as well as that of their corresponding receptors has been implicated in the inflammatory process. The severity of glandular infiltration has been suggested to be associated with the presence of extra-glandular systemic manifestations, contributing to a clinical spectrum of the most severe disease. This review describes several cytokines and chemokines associated with B lymphocytes expressed in the minor salivary gland, their chemical structures, and their roles in SS as possible early predictors of lymphoma development and disease progression.

Utilidad de la plasmaféresis en pacientes con lupus eritematoso sistémico en un centro de alta complejidad del suroccidente colombiano / Utility of plasma exchange in patients with systemic lupus erythematosus in a centre of high complexity of the Colombian Southwest

Introducción y Objetivo: El lupus eritematoso sistémico (LES) es una enfermedad multiorgánica mediada principalmente por el depósito de complejos inmunes en órganos blanco, los cuales pueden ser removidos rápidamente mediante plasmaféresis, considerándose esta modalidad terapéutica clave para el manejo de pacientes críticos, sumado al tratamiento inmunosupresor. Nuestro objetivo es describir las principales características clínicas y desenlaces de pacientes con LES quienes recibieron manejo con recambio plasmático terapéutico (PEX) en un hospital de alta complejidad del suroccidente colombiano. Métodos: Se realizó un estudio descriptivo, donde se incluyeron pacientes con diagnóstico de LES quienes hayan recibido PEX. Resultados: Un total de 40 pacientes fueron incluidos.

Sequential rituximab and omalizumab for the treatment of eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome).

Eosinophilic granulomatosis with polyangiitis (EGPA), formerly known as Churg-Strauss syndrome (CSS), is a small vessel vasculitis associated with eosinophilia and asthma. Clinical manifestations commonly seen in patients presenting with EGPA range from upper airway and lung involvement to neurological, cardiac, cutaneous, and renal manifestations. Treatment for severe presentations includes steroids, cyclophosphamide, plasmapheresis, and recently, rituximab. Rituximab is associated with a good response in the treatment of vasculitis, but a variable response for the control of allergic symptoms. Here, we report a 16-year-old female patient with severe EGPA (gastrointestinal and cutaneous vasculitis, rhinitis and asthma) refractory to conventional treatment. She was treated with rituximab, which enabled rapid control of the vasculitis component of the disease, but there was no response to rhinitis and asthma. Additionally, she developed severe bronchospasm during rituximab infusion. Sequential rituximab and omalizumab were initiated, leading to remission of all manifestations of vasculitis, rhinitis, and asthma, in addition to bronchospasm related to rituximab infusion.