Significance of HLA-B[*]51 allele expression in Crohn's disease: a case-control study.

OBJECTIVES: Crohn's disease (CD) and Behçet's disease (BD) are two autoinflammatory diseases that share clinical and pathogenic features. Furthermore, when BD involves the gastrointestinal tract, it is extremely difficult to distinguish endoscopic lesions from CD lesions. HLA-B*51 allele expression is highly associated with BD diagnosis. In this study we analysed HLA-B*51 status in 70 Argentine patients with confirmed CD diagnosis and compared it to our previous Argentine BD cohort, with the aim of finding similarities or differences between these two diseases regarding HLA-B*51 status. METHODS: This is a multi-centre case-control study, including 70 patients with confirmed CD diagnosis, who underwent HLA-B*51 allele status testing; the results were compared to our previous BD cohort of 34 patients. RESULTS: Among patients with CD, 12.85% were positive for the HLA-B*51 allele, compared with 38.24% patients with BD (OR=0.238; 95% CI=0.089-0.637; p=0.004). CONCLUSIONS: Our finding suggests that determination of HLA-B*51 allele status may contribute to the differential diagnosis between CD and BD.

Clinical features and outcomes of 37 Argentinean patients with severe granulomatosis with polyangiitis (wegener granulomatosis).

BACKGROUND: Most epidemiologic studies involving severe granulomatosis with polyangiitis (SGPA) patients have investigated populations from the northern hemisphere, whereas few studies have been conducted in South America. None of the South American studies have differentiated between localized GPA and SGPA. PURPOSE: The present study was designed to describe a cohort of Argentinean patients who were diagnosed with SGPA and to compare this cohort with previously well-described cohorts. METHODS: We performed a retrospective study that included 37 consecutive SGPA patients who were seen at 2 tertiary centers in Buenos Aires. RESULTS: Nineteen patients (51.3%) were male, and 18 patients (49.7%) were female. The mean age at the onset of symptoms was 48.5 ± 12.01 years. Antineutrophil cytoplasmic antibody (ANCA) was detected in 34 patients (91.89%): 32 patients (86.48%) had a cytoplasmic staining pattern, whereas 2 patients (5.40%) had a perinuclear pattern. Three patients were ANCA-negative. Twenty-four patients (64%) achieved remission, and 7 patients (19%) had response as defined by at least 50% reduction in the disease activity score. Nineteen relapses were observed in 12 patients, and 2 of the relapses were fatal. Overall, there were 14 deaths (37.83%). CONCLUSIONS: The present series demonstrated that Argentinean patients have similar demographics, clinical manifestations, and outcomes as the cohorts from the northern hemisphere. There was less granulomatous organ involvement (ear/nose/throat, lung granulomas) in the present cohort compared with other series.

Behçet disease in Latin American countries: A systematic literature review of demographic and clinical features, and HLA-B*51 allele frequency.

OBJECTIVE: To describe the demographic and clinical features, as well as the frequency of the HLA-B*51 allele in Behçet disease (BD) patients in Latin American countries. METHODS: A systematic literature review of PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analysis) guidelines was conducted without performing a meta-analysis. We included observational studies (cross-sectional or cohort) of BD patients fulfilling the International Study Group for BD classification criteria and reported the demographic, clinical, and laboratory features of the disease in adult patients. RESULTS: Twelve studies were included in the SLR. Information from 532 patients across 5 Latin American countries was included for the analysis. Mean age at disease diagnosis was 33 years, 58.3% were female and 41.7% male; most patients were non-Caucasian. The most common clinical manifestations were recurrent oral ulcers and genital ulcers, followed by skin, eye, joint, neurological, gastrointestinal, vascular, and cardiac involvement. The prevalence of BD was described in 2 studies, 1 conducted in Brazil that reported a prevalence of .3/100,000 inhabitants, and another in Colombia with a prevalence of 1.1/100,000 inhabitants. The frequency of HLA-B*51 allele in BD patients was 38%, 30.1%, and 9% in Argentina, Brazil, and Mexico, respectively. CONCLUSIONS: The prevalence of BD in the Latin American countries seems to be low, as well as the frequency of HLA-B*51 allele. However, the strength of association between HLA-B*51 and BD remains high in our population. The key clinical features of BD are like those reported in countries/regions where BD is endemic.

[Association between acute disseminated encephalomyelitis and Guillain-Barré syndrome in an adult]. / Asociación de encefalomielitis diseminada aguda y síndrome de Guillain-Barré en un adulto.

Acute disseminated encephalomyelitis (ADEM) and Guillain-Barré Syndrome (GBS) are commonly recognized as separated entities involving different parts of the nervous system. However, they share some features such as: autoimmune pathogenesis, myelin injury and previous history of viral infections or vaccination. We report the case of a 41 year-old man who developed fever, lower limbs weakness and obtundation fifteen days after an acute gastroenteritis. Neurological examination showed patellar hypereflexia, bilateral Babinski and neurogenic bladder. Twenty-four hours later he developed flaccid paraparesis, generalized areflexia and respiratory failure that was supported by mechanical ventilation. Cerebrospinal fluid showed mononuclear pleocytosis and elevated proteins. Electrodiagnosis showed important reduction of conduction velocity on both peroneal nerves. Magnetic Resonance Imaging revealed white matter lesions in brain, pons and thoracic levels of the spinal cord. Diagnosis of the association between ADEM and GBS (ASADEM-GBS) was made and treatment with corticosteroids and intravenous immunoglobulin was started. The patient recovered motor, sensory and bladder functions and he was able to walk six months later. ASADEM-GBS is an uncommon entity generally considered of poor outcome; however a rapid diagnosis and treatment can substantially improve the prognosis.

[General characteristics of 29 patients with small vessel vasculitis]. / Características generales de 29 pacientes con vasculitis de pequeños vasos.

The objective of this series was to describe the general characteristics and clinical manifestations of patients with small vessel vasculitis who were assisted in the autoimmunity department of a community public hospital and to compare the results with the literature. Clinical records under the label of vasculitis in a period of 16 years were reviewed in a retrospective way. All patients selected fulfilled diagnostic criteria of small vessel vasculitis. The data were extracted and the analysis of survival was completed by phone. Later a bibliographical search was carried out and the results were compared. Thirteen patients with Wegener's granulomatosis, 6 with Churg-Strauss syndrome and 10 with microscopic polyangiitis were included. Fifty five percent (16) were under 55 years old when diagnosis was made and male/female ratio was 2.6 to 1. The diagnostic delay was over a year in 46% of the cases. Respiratory and ear-nose-throat were the most frequently affected systems. Anti-neutrophil cytoplasmic antibodies were present in 79% of patients. Overall mortality was 24% (7/29). There were several differences between the results of our series and the literature: the presentation form, affected systems and percentage of patients with anti-neutrophil cytoplasmic antibodies. Greater diagnostic delay and worse prognosis were observed in anti-neutrophil cytoplasmic antibody negative patients. Special attention should be given to these antibodies since they constitute a significant tool at the time of diagnosis.

The HLA-B*51 Allele is strongly associated with Behçet Disease in an Argentinean population.

OBJECTIVE: To assess the association between the HLA-B*51 allele and Behçet Disease (BD) in Argentinean patients. METHODS: We enrolled 34 consecutive Argentinean patients with definitive diagnosis of BD between October 2016 and March 2017. None of the patients had the HLA-B*51 allele determined at study entry. Unrelated controls (n=240) were randomly obtained from the national cadaveric donor database. Demographic and clinical features of the patients were recorded by attending physicians through a questionnaire. RESULTS: Mean age of cases was 42 years old. Nineteen (55.8%) were male, and the mean age at diagnosis was 35 years old; twenty (58.8%) were Mestizos, 8 (23.5%) were Caucasian, and 6 (17.6%) were Amerindians. Thirteen (38.2%) of 34 cases were HLA-B*51 allele positive; 11 were heterozygous and 2 homozygous for the allele. Thirty-four (14.2%) of 240 controls were positive for the HLA-B*51 allele. The association between BD and HLA-B*51 allele was greater than that of control group (OR=3.75; p=0.0012). CONCLUSIONS: The HLA-B*51 allele is strongly associated with BD in Argentinean patients. Our finding is consistent with previous studies indicating that the HLA-B*51 allele is an important susceptibility gene in BD regardless the geographical region and ethnicity.

Lupus en Argentina. Pacientes no respondedores al tratamiento estándar y belimumab como posible opción. Datos del registro RELESSAR / Lupus in Argentina. Non-responders to standard treatment and belimumab as a possible option. RELESSAR record data

Introducción: el lupus es una enfermedad compleja y varias veces de difícil abordaje. Alcanzar la remisión es uno de los objetivos, incorporando opciones terapéuticas. Objetivos: describir las características generales de los pacientes según el estado de la enfermedad y el uso de belimumab. Materiales y métodos: estudio de corte transversal, registro RELESSAR. Se definió el estado de la enfermedad como: remisión: SLEDAI=0 y sin corticoides; baja actividad de la enfermedad: SLEDAI >0 y ≤4 y sin corticoides; control no óptimo: SLEDAI >4 y cualquier dosis de corticoides. Resultados: se incluyeron 1.277 pacientes, 23,4% en remisión, 12,6% en baja actividad y 63,8% con control no óptimo. En este último grupo eran más jóvenes y con menor duración de la enfermedad; presentaban mayores índices de actividad y cronicidad, y mayor empleo de inmunosupresores. Solo el 22,3% de los pacientes con criterio potencial de uso de belimumab (lupus eritematoso sistémico activo a pesar del tratamiento estándar) lo recibía en ese momento. Las variables asociadas a hospitalizaciones fueron: terapia con corticoides, ciclofosfamida y mayor SLICC. Conclusiones: se refleja la complejidad del manejo de estos pacientes y se visualizan aspectos estructurales como la desigualdad. El uso del belimumab resultaría beneficioso en los pacientes seleccionados.

Introduction: lupus is a complex disease and often difficult to approach. Achieving remission is one of the objectives, incorporating therapeutic options. Objectives: to describe the characteristics of the patients and the use of belimumab, according to the status of the disease. Materials and methods: cross-sectional study. Patients of the RELESSAR registry. Stratification: Remission: SLEDAI=0 and without corticosteroids. Low disease activity SLEDAI> 0 and ≤4 and without corticosteroids and non-optimal control: SLEDAI> 4 and any dose of corticosteroids. Results: a total of 1,277 patients were included, 23.4% in remission, 12.6% in low disease activity and 63.8% in non-optimal control. The last group was younger and had a shorter duration of the disease. They had higher activity and chronicity indices and greater use of immunosuppressants. Only 22.3% of the patients with potential criteria for the use of belimumab (activity disease despite standard treatment) were receiving it. The variables associated with hospitalizations were: corticosteroids, cyclophosphamide and higher SLICC. Those associated with severe infection: mycophenolate mofetil, azathioprine, corticosteroids, and higher SLICC. Conclusions: the complexity of the management of these patients is reflected, visualizing structural aspects such as inequality. The use of belimumab could be beneficial in selected patients.

Lupus en Argentina. Pacientes no respondedores al tratamiento estándar y belimumab como posible opción. Datos del registro RELESSAR / Lupus in Argentina. Non-responders to standard treatment and belimumab as a possible option. RELESSAR record data

Introducción: el lupus es una enfermedad compleja y varias veces de difícil abordaje. Alcanzar la remisión es uno de los objetivos, incorporando opciones terapéuticas. Objetivos: describir las características generales de los pacientes según el estado de la enfermedad y el uso de belimumab. Materiales y métodos: estudio de corte transversal, registro RELESSAR. Se definió el estado de la enfermedad como: remisión: SLEDAI=0 y sin corticoides; baja actividad de la enfermedad: SLEDAI >0 y ≤4 y sin corticoides; control no óptimo: SLEDAI >4 y cualquier dosis de corticoides. Resultados: se incluyeron 1.277 pacientes, 23,4% en remisión, 12,6% en baja actividad y 63,8% con control no óptimo. En este último grupo eran más jóvenes y con menor duración de la enfermedad; presentaban mayores índices de actividad y cronicidad, y mayor empleo de inmunosupresores. Solo el 22,3% de los pacientes con criterio potencial de uso de belimumab (lupus eritematoso sistémico activo a pesar del tratamiento estándar) lo recibía en ese momento. Las variables asociadas a hospitalizaciones fueron: terapia con corticoides, ciclofosfamida y mayor SLICC. Conclusiones: se refleja la complejidad del manejo de estos pacientes y se visualizan aspectos estructurales como la desigualdad. El uso del belimumab resultaría beneficioso en los pacientes seleccionados.

Introduction: lupus is a complex disease and often difficult to approach. Achieving remission is one of the objectives, incorporating therapeutic options. Objectives: to describe the characteristics of the patients and the use of belimumab, according to the status of the disease. Materials and methods: cross-sectional study. Patients of the RELESSAR registry. Stratification: Remission: SLEDAI=0 and without corticosteroids. Low disease activity SLEDAI> 0 and ≤4 and without corticosteroids and non-optimal control: SLEDAI> 4 and any dose of corticosteroids. Results: a total of 1,277 patients were included, 23.4% in remission, 12.6% in low disease activity and 63.8% in non-optimal control. The last group was younger and had a shorter duration of the disease. They had higher activity and chronicity indices and greater use of immunosuppressants. Only 22.3% of the patients with potential criteria for the use of belimumab (activity disease despite standard treatment) were receiving it. The variables associated with hospitalizations were: corticosteroids, cyclophosphamide and higher SLICC. Those associated with severe infection: mycophenolate mofetil, azathioprine, corticosteroids, and higher SLICC. Conclusions: the complexity of the management of these patients is reflected, visualizing structural aspects such as inequality. The use of belimumab could be beneficial in selected patients.

[Incomplete Carney's Triad and arterial hypertension in a young woman]. / Triada de Carney incompleta e hipertension arterial en una mujer joven.

The case of young woman with arterial hypertension diagnosed two years before, is here presented; she had a ferropenic anemia caused by digestive loss of blood. Multiple gastric tumors and pararenal non functioning paraganglioma were found. No chondromas were detected. An incomplete Carney's Triad was diagnosed. We remark that multiple gastric tumors in a young adult suggest the possibility of gastrointestinal stromal tumors (GIST) Endoscopic biopsy frequently is not effective because these tumors are deep placed in the muscular gastric layers. The importance of specific techniques for a positive diagnosis are emphasized. Continuous follow up is needed because these tumors have uncertain prognosis. Lung chondromas may appear years later after the GIST was removed and might be confused with GIST metastases.

Rituximab in the treatment of eosinophilic granulomatosis with polyangiitis.

BACKGROUND: The general consensus is that for patients with EGPA with poor prognosis, intensive therapy with both GC and CF is indicated. The maintenance of remission is made with GC and AZA. A considerable number of patients with EGPA are refractory to first line therapy, experience dose-limiting side effects or relapse. In clinical trials, RTX was effective for the treatment of ANCA-associated vasculitis. However, patients with a diagnosis of EGPA were not included. OBJECTIVE: to review and analyze the published literature regarding the use of RTX in the treatment of EGPA. METHODS: The literature search was performed in MEDLINE and LILACS from 1965 and 1986 respectively until february 2014. RESULTS: 27 patients were included. RTX treatment was due to refractory disease (n=20), relapse (n=5) and with newly diagnosed (n=2). The affected organs were the lungs, peripheral nervous system, kidney and the eyes. Sixteen patients had clinical remission and 8 patients had clinical response. CONCLUSIONS: RTX was effective and well tolerated for the treatment of EGPA.

4G/5G plasminogen activator inhibitor-1 and -308 A/G tumor necrosis factor-α promoter gene polymorphisms in Argentinean lupus patients: focus on lupus nephritis.

We investigated the relationship between the 4G/5G plasminogen activator inhibitor (PAI-1) and -308 A/G tumor necrosis factor-α (TNF-α) polymorphisms and the clinical and biochemical features of systemic lupus erythematosus (SLE) in an Argentinean patient cohort. A total of 402 patients were studied, including 179 SLE patients and 223 healthy individuals. PCR-RLFP was used to determine the genotypes of the 4G/5G PAI-1 and -308 A/G TNF-α polymorphisms. SLE patients with lupus nephritis (LN) (n = 86) were compared with patients without LN (n = 93). Additionally, LN patients were divided into proliferative LN and non-proliferative LN groups according to the results of the renal biopsies. No significant differences were noted in the genotype distributions or allele frequencies of these TNF-α and PAI-1 polymorphisms between SLE patients and controls. There were higher numbers of criteria for SLE, more lupus flares and higher damage scores in LN patients, but there were similar frequencies of anti-phospholipid antibody (APA) positivity and anti-phospholipid syndrome. No significant difference was noted for any studied variable between the proliferative LN and non-proliferative LN groups except for the presence of APA. We found no significant differences in the TNF-α and PAI-1 genotype distributions or allele frequencies between groups. We found that the -308 A/G TNF-α and 4G/5G PAI-1 polymorphisms are not associated with susceptibility to SLE in an Argentinean population. We also did not find any association between the presence of any specific allele or genotype and the development of LN in SLE patients. Finally, no association was noted between either of the two polymorphisms and the severity of renal disease.

The -2518 A/G polymorphism in the monocyte chemoattractant protein 1 gene is associated with the risk of developing systemic lupus erythematosus in Argentinean patients: a multicenter study.

Systemic lupus erythematosus (SLE) is a systemic, autoimmune disorder. Monocyte chemoattractant protein 1 (MCP-1), a chemokine involved in the recruitment and migration of monocytes/macrophages, has been shown to be increased in the plasma of SLE patients. The aim of our study was to evaluate the possible association of the polymorphism -2518 of the MCP-1 gene with the risk of developing SLE, manifesting lupus nephritis (LN) and with other clinical features of SLE in an Argentinean population. A group of 171 SLE patients and 120 control subjects were examined. Genotypic and allelic frequencies of the MCP-1 -2518 A/G polymorphism showed significant differences between the SLE and the control groups (p=0.001 and p=0.01, respectively). However, the polymorphism showed no association with LN or with the other clinical variables studied. Our results suggest that the presence of the MCP-1 -2518 A/G polymorphism might be a risk factor for developing SLE in genetically predisposed individuals, but it does not seem to have a role in the evolution of the disease in the Argentinean population.

[Celiac disease in 3 patients with Takayasu's arteritis]. / Enfermedad celíaca en 3 pacientes con arteritis de Takayasu.

Takayasu's arteritis (TA) is a chronic vasculitis of unknown etiology. Celiac disease (CD) is an autoimmune disease caused by the ingestion of gluten. TA and CD have been associated with many other autoimmune conditions. However, only five cases with this association have been reported. In this series, three patients with TA and CD were included; all were female, 21, 30 and 54 years old. TA clinical manifestations preceded CD diagnosis in all patients. Aortic arch branches were affected in all of them. Serologic markers were positive and a small intestine biopsy showed typical findings of CD in the three patients. Special attention should be given to this possible association because these entities may be asymptomatic; the recognition of new disease variants modifies treatment, and sometimes CD constitutes a differential diagnosis of mesenteric ischemia.

Asociación de encefalomielitis diseminada aguda y síndrome de Guillain-Barré en un adulto / Association between acute disseminated encephalomyelitis and Guillain Barré syndrome in an adult

La encefalomielitis diseminada aguda (EMDA) y el síndrome de Guillain-Barré (SGB) son reconocidas como entidades distintas, que afectan diferentes sectores del sistema nervioso, pero que comparten varias características tales como la patogenia autoinmune, el impacto sobre la mielina y el antecedente de infección viral o vacunación una a cuatro semanas previas al cuadro clínico. Se presenta un paciente varón de 41 años de edad que consultó por presentar fiebre, debilidad en miembros inferiores y somnolencia dos semanas posteriores a episodio agudo de gastroenteritis. Al ingreso se constató deterioro del sensorio (obnubilación) hiperreflexia patelar, Babinski bilateral y vejiga neurogénica. Veinticuatro horas después desarrolló paraplejía flácida y arreflexia generalizada, requiriendo asistencia respiratoria mecánica por insuficiencia respiratoria. El líquido cefalorraquídeo mostró pleocitosis mononuclear e hiperproteinorraquia. El estudio electrofisiológico evidenció importante disminución de las velocidades de conducción en ambos nervios ciáticos poplíteos externos, compatible con polineuropatía desmielinizante. La resonancia magnética nuclear mostró imágenes compatibles con desmielinización en cerebro, protuberancia y segmentos medulares dorsales. Se realizó diagnóstico de ASEMDA-SGB e inició tratamiento con metilprednisolona e inmunoglobulina intravenosa. Evolucionó favorablemente, recuperando las funciones motoras, vesical y la sensibilidad, siendo capaz de deambular luego de seis meses. La asociación de EMDA y SGB (ASEMDA-SGB) es una condición infrecuente, generalmente señalada como de mal pronóstico, en la cual un diagnóstico precoz y un rápido y enérgico tratamiento pueden mejorar substancialmente la evolución.

Acute disseminated encephalomyelitis (ADEM) and Guillain-Barré Syndrome (GBS) are commonly recognized as separated entities involving different parts of the nervous system. However, they share some features such as: autoimmune pathogenesis, myelin injury and previous history of viral infections or vaccination. We report the case of a 41 year-old man who developed fever, lower limbs weakness and obtundation fifteen days after an acute gastroenteritis. Neurological examination showed patellar hypereflexia, bilateral Babinski and neurogenic bladder. Twenty-four hours later he developed flaccid paraparesis, generalized areflexia and respiratory failure that was supported by mechanical ventilation. Cerebrospinal fluid showed mononuclear pleocytosis and elevated proteins. Electrodiagnosis showed important reduction of conduction velocity on both peroneal nerves. Magnetic Resonance Imaging revealed white matter lesions in brain, pons and thoracic levels of the spinal cord. Diagnosis of the association between ADEM and GBS (ASADEM-GBS) was made and treatment with corticosteroids and intravenous immunoglobulin was started. The patient recovered motor, sensory and bladder functions and he was able to walk six months later. ASADEM-GBS is an uncommon entity generally considered of poor outcome; however a rapid diagnosis and treatment can substantially improve the prognosis.

Síndrome del pulmón encogido y lupus eritematoso sistémico: una entidad clínico-patológica enigmática: [revisión] / Shrinking lung syndrome and systemic lupus erythematosus: an enigmatic clinical pathologic entity: [review]

El síndrome de pulmón encogido (SPE) es una rara y enigmática entidad descrita en pacientes con enfermedades autoinmunes, particularmente con lupus eritematoso sistémico (LES). Su etiología y patogenia permanecen desconocidas; el diagnóstico se basa en la sospecha clínica y se confirma con los estudios de imágenes y funcionales respiratorios. El tratamiento es actualmente empírico, y ante la falta de estudios terapéuticos los diferentes autores concuerdan que los esteroides son eficaces en una gran proporción de pacientes. A pesar de causar una significativa morbilidad, el pronóstico a largo plazo del SPE suele ser bueno. Nuestro objetivo es presentar un caso clínico característico de SPE en una paciente con LES y realizar una revisión narrativa con el objetivo de actualizar los diferentes aspectos de esta entidad nosológica.

The shrinking lung syndrome (SLS) is a rare and enigmatic disease. It was described in different autoimmune diseases, particularly in systemic lupus erythematosus patients (SLE). The causes of SLS remain obscure and the diagnosis is made on clinical findings, images and respiratory functional studies. No definitive therapy exists, and corticosteroids are effective in the majority SLS patients. The long-term prognosis is good, but SLS causes significant morbidity. Our propose is to describe a case of typical SLS in a SLE patient and to review the existing medical literature on the subject.

Meningoencefalitis por cryptococcus neoformans en un paciente con lupus eritematoso sistémico tratado con rituximab y micofenolato mofetilo: [revisión] / Meningoencephalitis due to cryptococcus neoformans in systemic lupus erythematosus patient treated with rituximab and mycophenolate mofetil: [review]

Presentamos un paciente con Lupus Eritematoso Sistémico (LES) tratado previamente con Rituximab y Micofenolato Mofetilo que desarrolló una criptococosis meníngea. Los pacientes con LES presentan múltiples defectos en su sistema inmune (SI) que, sumados a los producidos por los tratamientos inmunosupresores, predisponen a infecciones, entre ellas, a las causadas por gérmenes oportunistas. La meningitis por criptococo es una rara y severa complicación en estos pacientes. Rituximab produce una serie de cambios en el SI actuando sobre los linfocitos B, mientras que micofenolato actúa tanto sobre las células T como B. Las alteraciones inmunológicas presentes en nuestro paciente serían producto de la sumatoria de efectos de ambas drogas que explicarían la infección por Criptococcus neoformans.

We presented a systemic lupus erythematosus (SLE) patient previously treated with rituximab and mycophenolate who developed cryptococcal meningitis. SLE patients have multiple defects in the immunity system in addition to the additive effects of immunosuppressive treatments, which predispose to opportunistic infections. Cryptococcal meningitis is a rare and severe complication in SLE patients. Rituximab produces a series of changes in the immune system by acting on B cells, while mycophenolate produces its actions by acting on T and B cells. The immunology system defects in our patient could be done because the additive effects of two drugs that could explain the Cryptococcus neoformans infection.

Características generales de 29 pacientes con vasculitis de pequeños vasos / General characteristics of 29 patients with small vessel vasculitis

El objetivo de esta serie fue describir las características generales y manifestaciones clínicas de pacientes con vasculitis de pequeños vasos que concurrieron al servicio de autoinmunidad de un hospital de la comunidad y compararlas con la literatura. Se revisaron de manera retrospectiva las historias clínicas archivadas bajo el rótulo de vasculitis en un período de 16 años. Se seleccionaron aquellos pacientes que cumplieran criterios diagnósticos de vasculitis de pequeños vasos. Se extrajeron los datos de interés y se constató la supervivencia mediante contacto telefónico. Posteriormente se realizó una búsqueda bibliográfica y se compararon los resultados. Se incluyeron 13 pacientes con granulomatosis de Wegener, 6 con síndrome de Churg Strauss y 10 con poliangeítis microscópica. El 55% (16) fueron menores de 55 años al diagnóstico y hubo predominio del sexo femenino (2.6:1). La demora diagnóstica fue mayor a un año en el 46% de los casos. Los sistemas más frecuentemente afectados fueron respiratorio y otorrinolaringológico. El 79% presentó anticuerpos anti-citoplasma de neutrófilos (ANCA) positivos. La mortalidad fue del 24% (7/29). Al comparar las características de los pacientes incluidos en esta serie con lo descripto en la literatura, se hallaron diferencias en cuanto a la forma de presentación, sistemas comprometidos y porcentaje de pacientes ANCA positivos; además se observó que el resultado negativo de este marcador parece asociarse con mayor demora diagnóstica y en consecuencia peor pronóstico, lo que remarca su importancia como herramienta adicional no invasiva al momento del diagnóstico.

The objective of this series was to describe the general characteristics and clinical manifestations of patients with small vessel vasculitis who were assisted in the autoimmunity department of a community public hospital and to compare the results with the literature. Clinical records under the label of vasculitis in a period of 16 years were reviewed in a retrospective way. All patients selected fulfilled diagnostic criteria of small vessel vasculitis. The data were extracted and the analysis of survival was completed by phone. Later a bibliographical search was carried out and the results were compared. Thirteen patients with Wegener's granulomatosis, 6 with Churg-Strauss syndrome and 10 with microscopic polyangiitis were included. Fifty five percent (16) were under 55 years old when diagnosis was made and male/female ratio was 2.6 to 1. The diagnostic delay was over a year in 46% of the cases. Respiratory and ear-nose-throat were the most frequently affected systems. Anti-neutrophil cytoplasmic antibodies were present in 79% of patients. Overall mortality was 24% (7/29). There were several differences between the results of our series and the literature: the presentation form, affected systems and percentage of patients with anti-neutrophil cytoplasmic antibodies. Greater diagnostic delay and worse prognosis were observed in anti-neutrophil cytoplasmic antibody negative patients. Special attention should be given to these antibodies since they constitute a significant tool at the time of diagnosis.

Síndrome pulmo-renal en poliangeitis con granulomatosis (Granulomatosis de Wegener): estudio de 13 casos / Pulmonary renal syndrome in granulomatosis with polyangiitis (Wegener’s Granulomatosis): a study of 13 cases

Las vasculitis ANCA asociadas son la causa más frecuente de síndrome pulmo-renal (SPR); dentro de este grupo se halla la poliangeitis con granulomatosis (GPA). El objetivo de este trabajo fue describir las características clínicas y de laboratorio de pacientes con SPR y GPA, y comparar su sobrevida con un grupo de GPA graves sin SPR. Se revisaron retrospectivamente las historias clínicas de 37 casos de GPA pertenecientes a dos centros terciarios de la Ciudad de Buenos Aires. Se incluyeron para el análisis 13 casos con GPA/SPR; 7 fueron de sexo femenino, la media de edad al diagnóstico fue de 48 años. La media de seguimiento fue 4.66 años. El Birmingham Vasculitis Activity Score (BVAS) inicial fue de 31.13 ± 7.99 vs 18.19 ± 4.45 en el grupo de GPA sin SPR. Doce casos fueron ANCA-c positivos. El tratamiento consistió inicialmente en esteroides y ciclofosfamida; en los casos cuyo compromiso renal fue severo (creatinina plasmática 5mg/dll) se realizó plasmaféresis y diálisis. Se obtuvo la remisión de 8 casos; 2 recayeron durante el seguimiento. Se observaron 6 muertes; 2 fueron debidas a la actividad de la enfermedad, 3 debidas a infecciones y 1 a un accidente cerebrovascular. Todos fallecieron dentro de los 12 meses posteriores al diagnóstico. La mortalidad a los 30 días fue 38.46% en el grupo de GPA/SPR vs. 4.16% en el grupo de GPA sin SPR. El SPR es una de las formas más graves de la GPA y conlleva una elevada morbimortalidad. El diagnóstico debe ser rápido, excluyéndose otras posibles etiologías para poder instaurar un adecuado tratamiento que pueda modificar la mortalidad temprana que se observa en este síndrome. La determinación precoz de los ANCAs en el contexto clínico adecuado sería una herramienta de gran utilidad diagnóstica.

Eritrodermia y artritis psoriática tratadas exitosamente con etanercept en un paciente coinfectado con HIV y hepatitis C / Erythroderma and psoriatic arthritis treated with etanercept in a paitient coinfected with HIV and Hepatitis C

El tratamiento de pacientes inmunosuprimidos con agentes anti-factor de necrosis tumoral alfa (TNF-alfa), representa un desafío en tanto se trata de fármacos con un efecto inmonomodulador que presuponen un aumento en el riesgo de infecciones oportunistas. Presentamos un paciente de 42 años, coinfectado con el virus de inmunodeficiencia humana (HIV) y hepatitis C (HCV), con eritrodermia y artritis psoriática severa en respuesta al tratamiento con metotrexato, tratado con etanercept. Durante el primer año de tratamiento no se reportaron efectos adversos ni infecciones oportunistas. Si bien ha habido reportes de eritrodermia y de artritis psoriásica tratados con etanercept, asociados o no a infección por HIV y/o HCV, en nuestro conocimiento, este es el primer caso reportado con una presentación concomitante de eritrodermia psoriásica y artritis psoriásica en un paciente coinfectado con HIV y HCV tratado existosamente con un agente anti-TNF-alfa.

The use of anti tumor necrosis factor alfa (TNF-alfa) agents in immunosuppressed patients, represents a challenge in as much as this drugs with an immune modulator effect, pose a raise in the risk for opportunistic infections. We present a 42 year old patient, co-infected with human immunodeficiency virus (HIV) and hepatitis C virus (HCV), with erythroderma and severe psoriatic arthritis, without response to methotrexate, treated with etanercept. No adverse effects, or opportunistic infections were reported during the first year of treatment. This it is the first report of a successful treatment with an anti-TNF alfa agent in a patient with a concomitant presentation of psoriatic erythroderma, severe psoriatic arthritis, co-infected with HIV and HCV.

Triada de carney incompleta e hipertension arterial en una mujer joven / Incomplete Carney’s triad and arterial hypertension in a young woman

Se presenta una el caso de paciente joven, con tríada de Carney incompleta que cursa hipertensión arterial de dos años de evolución y anemia ferropénica grave por pérdida crónica de sangre por tubo digestivo, con tumores gástricos múltiples y paraganglioma pararrenal. No presenta aún desarrollo de condromas pulmonares visibles por tomografía axial computada. En nuestra paciente el paraganglioma no resultó funcionante. Resaltamos que la presencia de tumores gástricos múltiples en un adulto joven debe sugerir la posibilidad de tumores estromales (GIST), cuyo diagnóstico por biopsia endoscópica es difícil debido a su localización profunda, situada en las capas musculares de la pared gástrica. Asimismo queremos remarcar la importancia de las técnicas de marcación descriptas para el diagnóstico preciso. El seguimiento debe ser constante dado el pronóstico incierto de estos tumores. Los condromas pulmonares pueden aparecer años después de la resección del GIST y ser confundidos con metástasis del GIST.