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OBJECTIVE: To assess the prevalence of systemic and organ-specific autoimmunity among individuals with human inborn errors of immunity (IEI). METHODS: Retrospective study. We recorded demographic variables, type of immunodeficiency, and systemic and organ specific autoimmunity. RESULTS: We included 48 patients (54.1% men) with mean age of 32.1 years. The most common IEIs included combined immunodeficiency with syndromic features (31.2%) and predominantly antibody deficiency (20.1%). We observed autoimmunity in 15 patients (31.2%): 12 organ-specific autoimmunity and 5 systemic autoimmunity, not mutually exclusive groups. Organ-specific autoimmunity preceded the onset of IEI in 5 patients, was concurrent in one patient, and developed after the diagnosis of IEI in 6 cases. From the systemic autoimmunity group, we observed polyarteritis nodosa (n = 2), antiphospholipid syndrome (APS) (n = 2), and overlap of limited systemic sclerosis/APS/Sjögren's syndrome (n = 1), and in all cases, this occurred after the IEI diagnosis. CONCLUSION: Our findings confirm the coexistence of autoimmunity and IEI. This overlap may be attributed to B and T cell disorders, as well as potential alterations in the microbiota in these patients.

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OBJECTIVE: To review current literature to support the use of mesna as a preventive therapy for hemorrhagic cystitis and bladder cancer in patients with systemic autoimmune diseases and systemic vasculitis treated with cyclophosphamide. MATERIALS AND METHODS: The search for articles was conducted systematically through MEDLINE, LILACS, Cochrane Library, and Embase databases. Only articles in English were selected. For available records, titles and abstracts were selected independently by two investigators. RESULTS: Eighteen studies were selected for analysis. The known adverse effects of cyclophosphamide were hematological toxicity, infections, gonadal toxicity, teratogenicity, increased risk for malignancy and hemorrhagic cystitis. Long-term toxicity was highly dependent on cyclophosphamide cumulative dose. The risk of bladder cancer is especially higher in long-term exposure and with cumulative doses above 36 g. The risk remains high for years after drug discontinuation. Hemorrhagic cystitis is highly correlated with cumulative dose and its incidence ranges between 12 and 41%, but it seems to be lower with new regimens with reduced cyclophosphamide dose. No randomized controlled trials were found to analyze the use of mesna in systemic autoimmune rheumatic diseases and systemic vasculitis. Retrospective studies yielded conflicting results. Uncontrolled prospective studies with positive results were considered at high risk of bias. No evidence was found to support the use of mesna during the treatment with cyclophosphamide for autoimmune diseases or systemic vasculitis to prevent hemorrhagic cystitis and bladder cancer. In the scenarios of high cumulative cyclophosphamide dose (i.e., > 30 g), patients with restricted fluid intake, neurogenic bladder, therapy with oral anticoagulants, and chronic kidney disease, mesna could be considered. CONCLUSION: The current evidence was found to be insufficient to support the routine use of mesna for the prophylaxis of hemorrhagic cystitis and bladder cancer in patients being treated for systemic autoimmune diseases and systemic vasculitis with cyclophosphamide. The use may be considered for selected cases.

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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.

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Hemophagocytic lymphohistiocytosis (HLH) is a rare genetic hyperinflammatory syndrome that occurs early in life. Macrophage activation syndrome (MAS) usually refers to a secondary form of HLH associated with autoimmunity, although there are other causes of secondary HLH, such as infections and malignancy. In this article, we reviewed the concepts, epidemiology, clinical and laboratory features, diagnosis, differential diagnosis, prognosis, and treatment of HLH and MAS. We also reviewed the presence of MAS in the most common autoimmune diseases that affect children. Both are severe diseases that require prompt diagnosis and treatment to avoid morbidity and mortality.

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BACKGROUND: Patients with a history of adverse childhood experiences (ACEs) have a higher incidence of developing autoimmune diseases such as systemic lupus erythematosus. OBJECTIVE: The objective is to associate the ACE with the clinical manifestations of SLE in adult women. METHODS: This is a cross-sectional observational analytical study in a sample of women diagnosed with SLE, whose data were collected through interviews and a review of medical records. The ACE were identified using the Childhood Trauma Questionnaire (CTQ) and were associated with sociodemographic and clinical data, as well as the presence of harm. RESULTS: The sample was composed of 97 women. In this study, significant associations were found between physical abuse and oral ulcers (p = .006) and nephritis (p = .032); between sexual abuse and Sjogren's syndrome (p = .024) and oral ulcers (p = .035); between physical neglect and photosensitivity (p = .024) and oral ulcers (p = .039); and between emotional neglect and diabetes mellitus (p = .033). CONCLUSION: Individuals with a positive history of ACE have significant associations with certain clinical manifestations of SLE and subtypes of ACE, underscoring the importance of preventing childhood trauma to improve adult health. Further studies are needed to elucidate the impact of ACE on adult health.

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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.

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INTRODUCTION: Overlap autoimmune syndromes (OAS) and mixed connective tissue disease (MCTD) are rare in children. We performed a retrospective, longitudinal and descriptive study of Afro-Caribbean patients from the French West Indies followed for MCTD and OAS to describe their characteristics and outcomes during childhood. METHODS: Retrospective study from January 2000 to 2023. Listings of patients were obtained from multiple sources: computerized hospital archives and national hospital-based surveillance system, registry of pediatricians and adult specialists in internal medicine and the national registry for rare diseases. MCTD was defined according to Kasukawa's criteria. OAS was defined as overlapping features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and dermatomyositis/autoimmune myositis (DM/AM). RESULTS: Sixteen patients were included over a 23-year period (10 MCTD and 6 OAS). The incidence was 0.23 per 100,000 children-years. The mean age at diagnosis was 11.9 years old (2.4-17) with median follow up of 7.9 years (2.1-19.6). SLE phenotype was present in the highest, followed by SSc and DM/AM. Patients had an average of three flares during childhood (1-7). A quarter (25%) had symptomatic pulmonary arterial hypertension (PAH). Ninety-four percent received steroids during follow-up and 88% required a corticosteroid-sparing therapy. Three patients (19%) developed SLE after more than 10y of follow-up. There were no death and no chronic organ failure. CONCLUSION: This is the largest pediatric cohort of MCTD and OAS in Afro-descendant patients treated in a country with a high standard of care. The clinical evolution did not differ between MCTD and OAS. The main complication was PAH, more frequent in our cohort.

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Background: Non-Hodgkin's lymphoma (NHL) is a group of malignant tumors of the nodal and extranodal lymphoid tissues, and it is associated with autoimmune diseases, mainly rheumatoid arthritis (RA). Extra nodal presentation is observed in 40%, mainly affecting the gastrointestinal tract in 3% of cases, with bleeding in the digestive tract being a rare cause of clinical presentation that requires a detailed diagnostic approach. Clinical case: 55-year-old female with a history of RA, admitted to an internal medicine service due to bleeding in the digestive tract; patient presented clinical data of deep vein thrombosis in the left pelvic limb and consumptive syndrome under study. During her approach she was identified with splenic and liver infarctions, as well as multiple lymph node conglomerates, due to which it was performed an axillary lymph node biopsy reporting neoplastic proliferation of lymphoid cells, and bone marrow aspirate with presence of lymphoplasmacytic infiltration, with which a diagnosis of stage IV non-Hodgkin lymphoma was made. Patient was sent to a third-level hospital to start treatment. Conclusions: This case shows us what has already been described in literature, which is why it is of fundamental importance to carry out a comprehensive approach of clinical findings in patients with previously identified risk factors, with the aim of achieving an etiological diagnosis that allows early therapy to improve their survival.

Introducción: el linfoma no Hodgkin (LNH) es un grupo de tumores malignos de los tejidos linfoides nodales y extranodales, y está asociado a enfermedades autoinmunes, principalmente artritis reumatoide (AR). La presentación extranodal se observa en el 40% y afecta principalmente el tracto gastrointestinal en el 3% de los casos; el sangrado de tubo digestivo es una causa rara de presentación clínica que requiere un abordaje diagnóstico detallado. Caso clínico: mujer de 55 años con antecedente de AR que ingresó a un servicio de medicina interna por sangrado de tubo digestivo; presentó datos clínicos de trombosis venosa profunda en miembro pélvico izquierdo y síndrome consuntivo en estudio. Durante su abordaje se identificó con infartos esplénicos y hepáticos, así como múltiples conglomerados ganglionares, por lo que se practicó biopsia de ganglio axilar que reportó proliferación neoplásica de células linfoides y aspirado de médula ósea con presencia de infiltración linfoplasmocitaria, con lo que se determinó diagnóstico de linfoma no Hodgkin estadio IV. La paciente fue enviada a un hospital de tercer nivel para inicio de tratamiento. Conclusiones: este caso nos muestra lo ya descrito en la literatura, por lo que es de fundamental importancia hacer un abordaje integral de los hallazgos clínicos en pacientes con factores de riesgo previamente identificados, con el objetivo de lograr un diagnóstico etiológico que permita una terapéutica temprana para mejorar su sobrevida.

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OBJECTIVE: Contemporary studies reporting outcomes of critical care in patients with inflammatory and autoimmune rheumatological diseases are scarce. This study describes 15 years of experience from 2005-2019 in a Colombian referral hospital. METHODS: This observational, descriptive, consecutive case series study was performed on adult patients with inflammatory and autoimmune rheumatic diseases who were admitted to the intensive care unit (ICU) of the San Ignacio University Hospital in Bogotá (Colombia), from January 1, 2005, to December 21, 2019. We describe the sociodemographic characteristics, admission causes and criteria, lengths of stay, immunosuppressive treatment, systemic support, and mortality. RESULTS: The study included 300 patients with a median age of 48 years [interquartile range (IQR) 31-62 years], predominantly female (76%). Disease exacerbations (30%), infections (17.6%), and cardiovascular diseases (15%) were the main causes of admission. Respiratory failure (23%) most commonly caused by septic shock (24%) was the principal indication for intensive care admission. The most frequent infections were community-acquired pneumonia (11.6%) and soft-tissue infections (9%). In 40.3% of patients, inotropic and vasopressor support was required. The median length of stay was 4 days (IQR 2-8), and global mortality was 21.6%. CONCLUSIONS: Rheumatic diseases in the ICU are still associated with high morbidity and mortality. Patients with inflammatory and autoimmune rheumatic diseases require a meticulous clinical approach, strict clinical monitoring, frequent assessment of complications, evaluation of systemic support needs, and specific management.

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Previous studies found conflicting results about associations of vitiligo with different autoimmune diseases. To evaluate associations of vitiligo with multiple autoimmune diseases. A cross-sectional study representative of 612,084,148 US patients from the Nationwide Emergency Department Sample (NEDS) 2015-2019 was performed. Vitiligo and autoimmune diseases were identified using International Classification of Diseases-10 codes. The most frequent autoimmune disorders in patients with vitiligo were type 1 diabetes, rheumatoid arthritis, systemic lupus erythematosus (SLE), autoimmune thyroiditis, Addison's disease, and systemic sclerosis (SSc). Vitiligo was associated with any autoimmune disorder (adjusted odds ratio [95% confidence interval] 1.45 [1.32-1.58]). Cutaneous disorders with largest effect-sizes were alopecia areata (186.22 [115.31-300.72]) and SSc (32.13 [25.28-40.82]). Non-cutaneous comorbidities with largest effect-sizes were primary sclerosing cholangitis (43.12 [18.98-97.99]), pernicious anemia (41.26 [31.66-53.78]), Addison's disease (33.85 [26.68-42.9]), and autoimmune thyroiditis (31.65 [26.34-38.02]). Vitiligo is associated with multiple cutaneous and non-cutaneous autoimmune diseases, especially in females and older age.

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OBJECTIVE: To describe the prevalence of persistent hypogammaglobulinemia in patients receiving Rituximab as a treatment for autoimmune rheumatological diseases. METHODS: A transversal, retrospective and unicentric study, carried out in patients with autoimmune rheumatic diseases who were admitted to the Rheumatology service of the Hospital de Especialidades Dr. Antonio Fraga Mouret, Centro Médico Nacional La Raza, Mexico City, to receive treatment with rituximab between January 2013 and January 2018. Descriptive and inferential statistics of serum levels of immunoglobulins, clinical-demographic characteristics, diagnosis, and treatment received were performed. RESULTS: from 262 patients with autoimmune rheumatological disease who received treatment with Rituximab; We identified 8 patients with persistent hypogammaglobulinemia (6 women and 2 men), this is a prevalence of 3.1%. No associated factors with the development of hypogammaglobulinemia were identified. CONCLUSIONS: Until now, no associated prognostic or predictive factors have been identified with persistent hypogammaglobulinemia. Additional prospective studies are required to understand more precisely the implications of persistent hypogammaglobulinemia in patients with autoimmune diseases.

OBJECTIVO: Determinar la prevalencia de hipogammaglobulinemia persistente en pacientes con enfermedades reumatológicas autoinmunes que reciben rituximab. MÉTODOS: Estudio trasversal, retrospectivo y unicéntrico, emprendido en pacientes con enfermedades reumatológicas autoinmunes, que acudieron a la Consulta externa del servicio de Reumatología del Hospital de Especialidades Dr. Antonio Fraga Mouret, Centro Médico Nacional La Raza, Ciudad de México, entre enero de 2013 y enero de 2018, para recibir tratamiento con rituximab. El análisis de los datos se efectuó con estadística descriptiva e inferencial, para la evaluación de las concentraciones séricas de inmunoglobulinas, características clínico demográficas, diagnóstico y tratamiento. RESULTADOS: Estudio trasversal, retrospectivo y unicéntrico, emprendido en pacientes con enfermedades reumatológicas autoinmunes, que acudieron a la Consulta externa del servicio de Reumatología del Hospital de Especialidades Dr. Antonio Fraga Mouret, Centro Médico Nacional La Raza, Ciudad de México, entre enero de 2013 y enero de 2018, para recibir tratamiento con rituximab. El análisis de los datos se efectuó con estadística descriptiva e inferencial, para la evaluación de las concentraciones séricas de inmunoglobulinas, características clínico demográficas, diagnóstico y tratamiento. CONCLUSIONES: Hasta el momento no se han identificado factores asociados, pronósticos o predictivos, con hipogammaglobulinemia persistente. Se requieren estudios prospectivos adicionales para conocer con mayor precisión las implicaciones de la hipogammaglobulinemia persistente en pacientes con enfermedades autoinmunes.

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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.

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The most common cause of acquired thyroid dysfunction is autoimmune thyroid disease, which is an organ-specific autoimmune disease with two presentation phenotypes: hyperthyroidism (Graves-Basedow disease) and hypothyroidism (Hashimoto's thyroiditis). Hashimoto's thyroiditis is distinguished by the presence of autoantibodies against thyroid peroxidase and thyroglobulin. Meanwhile, autoantibodies against the TSH receptor have been found in Graves-Basedow disease. Numerous susceptibility genes, as well as epigenetic and environmental factors, contribute to the pathogenesis of both diseases. This review summarizes the most common genetic, epigenetic, and environmental mechanisms involved in autoimmune thyroid disease.

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OBJECTIVES: Satoyoshi syndrome is a rare multisystem disease of presumed autoimmune aetiology. We carried out a systematic review to evaluate the available evidence to support that autoimmune hypothesis. METHODS: We searched for Satoyoshi syndrome cases in PubMed, the Web of Science and Scopus up to January 2022, using keywords 'Satoyoshi syndrome' or 'Komuragaeri disease'. Data on symptoms, associated autoimmune diseases, presence of autoantibodies and response to treatment were collected. RESULTS: A total of 77 patients from 57 articles published between 1967 and 2021 were included; 59 patients were women. The mean age at diagnosis was 21.2 years. All cases had painful muscular spasms and alopecia. Frequent manifestations included: diarrhoea, malabsorption, growth retardation, amenorrhoea and bone deformity. Satoyoshi syndrome was associated with other autoimmune diseases: myasthenia gravis, autoimmune thyroiditis, idiopathic thrombocytopenic purpura, atopic dermatitis, bronchial and lupus erythematosus. Autoantibody determinations were performed in 39 patients, of which 27 had positive results. The most frequently detected autoantibodies were ANAs. Other less frequently found autoantibodies were: anti-acetylcholine receptor antibodies, anti-DNA antibodies, antithyroid antibodies, anti-glutamic acid decarboxylase (anti-GAD) and anti-gliadin antibodies. Pharmacological treatment was reported in 50 patients. Most of them improved with CS, immunosuppressants and immunoglobulins, or a combination of these medications. CONCLUSION: Satoyoshi syndrome is associated with other autoimmune diseases and a variety of autoantibodies. Improvement after CS or other immunosuppressant treatment was observed in 90% of cases. These data support an autoimmune aetiology for Satoyoshi syndrome. More studies including systematic determination of autoantibodies in all patients with Satoyoshi syndrome will help us advance in our understanding of this disease.

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Rheumatic autoimmune diseases are associated with a myriad of comorbidities. Of particular importance due to their morbimortality are cardiovascular diseases. COVID-19 greatly impacted the world population in many different areas. Patients with rheumatic diseases had to face changes in their healthcare, in addition to unemployment, a decrease in physical activity, social isolation, and lack of access to certain medications. This review summarizes the impact of COVID-19 pandemic on cardiovascular risk factors, comorbidities, and unhealthy behaviors in patients with rheumatic inflammatory autoimmune diseases, particularly focused on rheumatoid arthritis and systemic lupus erythematosus. Searches were carried out in MEDLINE/PubMed and Scopus from August to December 2022. Four reviewers screened the title and abstract of retrieved records. Potentially eligible reports were then reviewed in full text. Differences were reconciled by either consensus or discussion with an external reviewer. During the COVID-19 pandemic, patients with rheumatic diseases showed an increase in the prevalence of mental health disorders (43.2-57.7%), reduced physical activity (56.8%), and a worsening in eating behaviors. Alcohol intake increased (18.2%), especially in early phases of the pandemic. Smoking prevalence decreased (28.2%). Dyslipidemia and hypertension showed no changes. The pandemic and lockdown affected rheumatic patients not only in disease-related characteristics but in the prevalence of their cardiovascular comorbidities and risk factors. Lifestyle changes, such as healthy eating, physical activity, and optimal management of their rheumatic diseases and comorbidities, are essential to manage the long-lasting consequences of the COVID-19 outbreak. Key Points • During the COVID-19 pandemic, anxiety, depression, sedentarism, obesity, and a worsening in eating behaviors increased. •Patients with rheumatic diseases and comorbidities have worse clinical outcomes and a higher cardiovascular disease burden than those without them. •Comparative studies are necessary to precisely elucidate the pandemic's impact on the prevalence of cardiovascular disease, risk factors, and comorbidities in patients with rheumatoid arthritis and systemic lupus erythematosus.

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BACKGROUND: Personal history of autoimmune rheumatic diseases has been implicated in the development of malignant neoplasms. Our aim was to assess the risk of head and neck (H&N) cancers in patients with autoimmune rheumatic diseases. METHODS: The articles search included PubMed, EMBASE, LILACS, The Cochrane Library, CINAHL, Scopus, Web of Science, and Google Scholar with no language restrictions for studies published from inception of the databases to August 20, 2022, assessing the risk of H&N cancer in patients with autoimmune rheumatic diseases. Studies were included if they reported the standardized incidence ratio (SIR) with corresponding 95% confidence intervals (CIs). The primary outcome was risk of H&N cancers in patients with autoimmune rheumatic diseases compared with the general population. Pooled summary estimates were calculated using a random-effects model, and subgroup analyses were done to establish whether risk of H&N cancers varied according to study site. RESULTS: Our search identified 5378 records, of which 32 cohort studies were eligible for systematic review and 24 for meta-analysis (including 273 613 patients). A significant association was found between H&N cancer and autoimmune rheumatic diseases (SIR = 2.35; 95% CI: 1.57-3.50; p < 0.01, I2  = 94%). CONCLUSION: Our study suggests that patients with autoimmune rheumatic diseases had a significantly increased risk of H&N cancer compared with the general population, including thyroid, oral, and nasopharyngeal cancers. These findings have implications for the individualized screening of these patients and the planning of oncology units. The protocol is registered with PROSPERO, number CRD42020197827.

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Pulmonary hypertension is a hemodynamic state defined by a mean pulmonary arterial pressure >20 mmHg and a pulmonary vascular resistance ≥3 WU, subdivided into 5 groups. Chronic Thromboembolic Pulmonary Hypertension (CTEPH) corresponds to group 4. The antiphospholipid syndrome is one of the most associated thrombophilia, with a prevalence of CTEPH of 2%-50%. A case-control study was conducted where data from the Right Cardiac Catheterization Registry of the PH Clinic were collected, with a diagnosis of CTEPH in patients aged 18-60 years and any sex. Antiphospholipid Syndrome (APLS) patients were separated from those with only CTEPH. It was developed in a statistical analysis based on frequencies, means, and standard deviation. The variables were evaluated using the Kolmogorov-Smirnov, Student's T, Mann-Whitney U, and Chi-Square tests with a 95% confidence interval. A total of 12 patients with APLS diagnosis and 30 without it were identified. The comparison between both groups shows that the patients with APLS were younger (38 ± 14.35 vs 51.63 ± 15.02 years, P 0.010) and had a significant association with autoimmune diseases (25% vs 0%, P 0.003). The patients diagnosed with APLS were primarily men (7 vs 5), and no statistically significant difference was found between laboratory and hemodynamic parameters. Patients diagnosed with CTEPH and APLS are mainly male, younger mean age, and have a greater significant association with autoimmune diseases than patients with CTEPH.

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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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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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Introdução: As Doenças doTecido Conjuntivo são um grupo de doenças autoimunes ou idiopáticas, crônicas, de acometimento geralmente sistêmico e que podem, ou não, atacar o indivíduo de forma concomitante. O presente relato de caso apresenta a descrição de Esclerose Sistêmica e Polimiosite em uma mesma paciente. O fenômeno é conhecido como Sindrome de Overlap (presença simultânea de duas ou mais doenças do tecido conjuntivo, de natureza auto-imune em um paciente) e considerado raro. A Polimiosite e Dermatomiosite são doenças idiopáticas inflamatórias crônicas que afetam a musculatura estriada, a pele e outros órgãos. Esclerose sistêmica é outra doença não tão frequente, extremamente incapacitante pela sua repercussão multissistêmica, de evolução crônica e progressiva. As calcinoses, assim como fenômeno de Raynaud, mialgia, disfagia e queixas respiratórias, podem estar presentes em ambas as patologias, e no caso relatado não foi diferente.Métodos:Oestudo observacional descritivo relata o caso de uma paciente atendida pelo setor de reumatologia do Hospital do Servidor Público Municipal de São Paulo (HSPM), reunindo informações contidas em prontuários, do ano de 2014 até o presente momento. Discussão: A Dermatomiosite e a Síndrome de CREST, subtipos da esclerose sistêmica e das Miosites Inflamatórias, respectivamente, são doenças raras e de difícil diagnóstico devido a presença se sintomas em comum e passíveis de serem encontrados em outras comorbidades não auto-imunes. Seu tratamento é feito com imunossupressores e medicações voltadas para cada queixa clínica do paciente, a depender de uma boa investigação clínica e critérios diagnósticos fechados, evitando progressão acelerada e complicações clínicas. Conclusão: O tratamentoproposto para Esclerose sistêmica e Dermatomiosite já possui uma gama extensa de possibilidades farmacológicas e não-farmacológicas mas ainda sem protocolos específicos consensuais, sendo indicadas de acordo com a experiência pessoal do profissional, visando diminuição dos processos inflamatórios, recuperação de qualidade de vida e prevenção de complicações. Já o tratamento das calcinoses ainda não apresenta resultados satisfatórios, sendo propostos de acordo com a resposta clínica individual dos pacientes. Palavras-chave: Esclerose. Polimiosite. Dermatomiosite. Calcinose. Síndrome CREST.

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