Climatério e lúpus eritematoso sistêmico / Climacteric and systemic lupus erythematosus

O lúpus eritematoso sistêmico é uma doença crônica, complexa e multifatorial que apresenta manifestações em vários órgãos. O seu acometimento ocorre 10 vezes mais no sexo feminino do que no masculino. É uma doença com uma clínica variada e com graus variados de gravidade, causando fadiga, manifestações cutâneas, como rash malar, fotossensibilidade, queda de cabelo e manifestações musculoesqueléticas, como artralgia, mialgia e atrite. Podem ocorrer flares (crises), que se caracterizam por aumento mensurável na atividade da doença. No climatério, no período da pré-menopausa, o lúpus eritematoso sistêmico ocorre com mais frequência, podendo ocorrer também na pós-menopausa. Algumas doenças são mais frequentes na fase do climatério, e a presença do lúpus pode influenciar na sua evolução, como a doença cardiovascular, osteoporose e tromboembolismo venoso. A terapia hormonal oral determina aumento do risco de tromboembolismo venoso no climatério, e na paciente com lúpus eritematoso sistêmico há aumento dos riscos de flares e de trombose. Em vista disso, a terapia hormonal é recomendada apenas para pacientes com lúpus eritematoso sistêmico estável ou inativo, sem história de síndrome antifosfolípides e com anticorpos antifosfolípides negativa, devendo-se dar preferência para a terapia estrogênica transdérmica, em menor dose e de uso contínuo. Na paciente com lúpus eritematoso sistêmico ativo ou com história de síndrome antifosfolípides ou com anticorpos antifosfolípides positiva, recomenda-se a terapia não hormonal, como os antidepressivos. (AU)

Systemic lupus erythematosus is a chronic, complex, multifactorial disease that manifests in several organs. Its involvement occurs 10 times more in females than in males. It is a disease with a varied clinic and varying degrees of severity, causing fatigue, skin manifestations such as malar rash, photosensitivity, hair loss and musculoskeletal manifestations such as arthralgia, myalgia and arthritis. Flare may occur, which are characterized by measurable increase in disease activity. In the climacteric, in the premenopausal period, systemic lupus erythematosus occurs more frequently, and may also occur in the postmenopausal period. Some diseases are more frequent in the Climacteric phase and the presence of lupus can influence its evolution, such as cardiovascular disease, osteoporosis and venous thromboembolism. Oral hormone therapy determines an increased risk of venous thromboembolism in the climacteric and in patients with systemic lupus erythematosus there is an increased risk of flares and thrombosis. In view of this, hormone therapy is only recommended for patients with stable or inactive systemic lupus erythematosus, without a history of antiphospholipid syndrome and with antiphospholipid antibodies, giving preference to transdermal estrogen therapy, at a lower dose and for continuous use. In patients with active systemic lupus erythematosus or with a history of antiphospholipid syndrome or positive antiphospholipid antibodies, non-hormonal therapy, such as antidepressants, is recommended. (AU)

Additional risk factors associated with thrombosis and pregnancy morbidity in a unique cohort of antiphospholipid antibody-positive patients / 中华医学杂志(英文版)

BACKGROUND@#Antiphospholipid syndrome (APS) is an autoimmune prothrombotic condition with significant morbidity. The objective of this study was to identify additional clinical and epidemiological risks of arterial thrombosis, venous thrombosis, and pregnancy morbidities in a large cohort of persistent antiphospholipid antibodies (aPLs)-positive carriers.@*METHODS@#This was a cross-sectional cohort study of 453 consecutive patients with a documented positive aPL who attended Peking University People's Hospital. Among 453 patients screened, 297 patients had persistent positive aPL. We compared asymptomatic aPL carriers with thrombotic and obstetric APS patients. And the univariate analysis and multivariable logistic regression were used to evaluate the association between different risk factors and APS clinical manifestations. The levels of circulating markers of neutrophil extracellular traps (NETs) (cell-free DNA and citrullinated histone H3 [Cit-H3]) were assessed and compared among aPL-positive carriers with or without autoimmune disease and APS patients.@*RESULTS@#Additional risk factors associated with arterial thrombosis among aPL-positive carriers included: smoking (odds ratio [OR] = 6.137, 95% confidence interval [CI] = 2.408-15.637, P  = 0.0001), hypertension (OR = 2.368, 95% CI = 1.249-4.491, P  = 0.008), and the presence of underlying autoimmune disease (OR = 4.401, 95% CI = 2.387-8.113, P < 0.001). Additional risks associated with venous thrombosis among aPL carriers included: smoking (OR = 4.594, 95% CI = 1.681-12.553, P  = 0.029) and the presence of underlying autoimmune disease (OR = 6.330, 95% CI = 3.355-11.940, P < 0.001). The presence of underlying autoimmune disease (OR = 3.301, 95% CI = 1.407-7.744, P  = 0.006) is the additional risk, which demonstrated a significant association with APS pregnancy morbidity. Higher circulating levels of cell-free DNA and Cit-H3 were observed among APS patients and aPL patients with autoimmune diseases compared with those aPL carriers without underlying autoimmune diseases. Furthermore, control neutrophils that are conditioned with APS patients'sera have more pronounced NET release compared with those treated with aPL carriers'sera without underlying autoimmune diseases.@*CONCLUSIONS@#We identified several potential additional risk factors for APS clinical manifestations among a large cohort of Chinese aPL carriers. Our data may help physicians to risk stratify aPL-positive Asian patients.

Síndrome antifosfolipídico en pediatría: a propósito de un caso / The antiphospholipid antibody syndrome in pediatrics: a case repor

El síndrome antifosfolipídico (SAF) es infrecuente en la edad pediátrica (3 %) y se presenta como eventos trombóticos de lechos vasculares y/o abortos espontáneos, asociado a la presencia de anticuerpos antifosfolipídicos (aFL). Este síndrome puede ser primario o asociado a alguna enfermedad sistémica subyacente. Se presenta el caso de una niña de 12 años con hemiparesia faciobraquiocrural derecha y alteración en la marcha de aparición aguda, en la cual se confirma un accidente cerebrovascular (ACV) isquémico por trombosis de la arteria cerebral media asociado a aFL positivos (anticuerpo anticardiolipina, anticoagulante lúpico y anticuerpo anti-ß2-glicoproteína). Cumple con los criterios para realizar diagnóstico de síndrome antifosfolipídico. Luego de iniciar el tratamiento, la paciente evoluciona de manera favorable. Se trata de una patología infrecuente y de presentación variable, por lo que requiere un alto sentido de alerta por parte del equipo de salud para evitar retrasos en el diagnóstico y el tratamiento, y disminuir su morbimortalidad

Antiphospholipid syndrome (APS) is infrequent at pediatric age (3 %) and is characterized by venous or arterial thrombosis and/or spontaneous abortions. APS occurs either as a primary condition or in the setting of an underlying disease. This is a case of a 12-year-old girl with a right hemiparesis and acute disturbance in gait, in which an ischemic cerebrovascular accident (CVA) due to middle cerebral artery thrombosis associated with positive antiphospholipid antibodies is confirmed (anticardiolipin antibody, lupus anticoagulant and anti-ß2-glycoprotein antibody), fulfilling the criteria for the diagnosis of antiphospholipid syndrome . After starting treatment accordingly, the patient evolves favorably. As this pathology is infrequent and of variable presentation, it requires a high sense of alert from the health team to avoid delays in diagnosis and treatment

Retinal ischemia as the first manifestation of antiphospholipid antibody syndrome / Isquemia retiniana como primeira manifestação da síndrome do anticorpo antifosfolipídio

ABSTRACT Antiphospholipid antibody syndrome (APS) is characterized by the development of venous and/or arterial thrombosis and by gestational morbidity (recurrent fetal losses) in the presence of antiphospholipid antibodies. We report the case of a 38-year-old woman who was diagnosed with primary APS from thromboembolic abnormalities in the retinal periphery that led to retinal ischemia. The aim of this study is to share with physicians and medical undergraduates an atypical manifestation of the syndrome that is the most common acquired thrombophilia, that should be part of the diagnostic routine of all clinical specialties.

RESUMO A síndrome do anticorpo antifosfolipídio (SAAF) caracteriza-se pelo desenvolvimento de tromboses venosas e/ou arteriais e pela morbidade gestacional (perdas fetais recorrentes) na presença de anticorpos antifosfolipídicos. Foi relatado o caso de uma paciente de 38 anos que foi diagnosticada com SAAF primária, a partir de alterações tromboembólicas na periferia da retina, que levaram à isquemia retiniana. O objetivo desse estudo é compartilhar com médicos e acadêmicos de medicina uma manifestação atípica da síndrome que é a trombofilia adquirida mais comum, devendo fazer parte da rotina diagnóstica de todas as especialidades clínicas.

Resultados obstétricos en gestantes diagnosticadas de síndrome antifosfolípido / Obstetric outcomes in pregnant women diagnosed of antiphospholipid syndrome

INTRODUCCIÓN: El síndrome antifosfolípido (SAF) es una enfermedad autoinmune caracterizada por la aparición de trombosis, complicaciones obstétricas y la presencia de anticuerpos antifosfolípidos. El objetivo de este estudio fue evaluar los resultados obstétricos en gestantes diagnosticadas de síndrome antifosfolípido, así como evaluar las condiciones que podrían influir en estos resultados. MATERIAL Y MÉTODOS: Se realizó un estudio retrospectivo de gestantes con diagnóstico previo de SAF, que fueron atendidas en nuestro centro entre los años 2007 y 2017. RESULTADOS: En el período de estudio se recogieron 35 gestantes con SAF, con un total de 50 gestaciones. Se empleó heparina en el 100% de las gestaciones y ácido acetilsalicílico en el 96%. La aparición de alguna complicación obstétrica ocurrió en el 34% de las gestaciones estudiadas. El perfil de anticuerpos triple positivo se asoció a mayor porcentaje de partos prematuros. La presencia de anticoagulante lúpico de forma aislada no se asoció a peores resultados obstétricos. DISCUSIÓN: La gestación en la mujer con SAF supone un importante reto, que precisa de un manejo multidisciplinar por parte del obstetra y el reumatólogo. Por otro lado, el perfil de anticuerpos antifosfolípidos podría detectar a las pacientes con mayor riesgo con el fin de adecuar el tratamiento y mejorar los resultados obstétricos.

INTRODUCTION: The antiphospholipid syndrome (APS) is an autoinmune disease characterized by the occurence of thrombosis, obstetric morbidity and the presence of antiphospholipid antibodies. The aim of this study was to evaluate the obstetric outcomes in pregnant women diagnosed of antiphospholipid syndrome, as well as examine the conditions which may influence in those results. MATERIALS AND METHODS: A retrospective study was undertaken with pregnant women diagnosed of APS, who were attended in our hospital between 2007 and 2017. RESULTS: During the period of study 35 patients with APS and a sum of 50 pregnancies were gathered. Heparin was used in all pregnancies and acetylsalicylic acid in 96%. Any adverse obstetric outcome occurred in 34% of the pregnancies in the study. The triple positivity of antiphospholipid antibodies was associated to higher percentage of premature deliveries. The lupus anticoagulant alone was not related to worse obstetric outcomes. CONCLUSIONS: Pregnancy in APS patients means a challenge, requiring a multidisciplinary management by Obstetricians and Rheumathologists. On the other hand, the antiphospholipid antibodies profile could help to recognize those patients at risk, in order to adequate treatment and improve obstetric results.

A case of HIV negative cryptococcal meningitis with antiphospholipid syndrome / 中南大学学报(医学版)

Cryptococcal meningitis has become the largest cause for the death of infectious diseases in the central nervous system infectious disease worldwide. Most patients with cryptococcal meningitis have AIDS, autoimmune diseases, hematologic malignancies, and some other relevant diseases. It is mainly caused by infection with

Síndrome antifosfolipídico, lupus eritematoso sistémico y tromboembolismo pulmonar / Antiphospholipid syndrome, systemic lupus erythematosus and pulmonary thromboembolism. Case presentation

El síndrome antifosfolipídico o de Hughes, como también se le conoce, puede aparecer de manera aislada o asociado a otras enfermedades autoinmunes como el lupus eritematoso sistémico. La asociación de ambas entidades puede causar varias complicaciones, como el tromboembolismo pulmonar. Se presenta el caso de una paciente de 28 años de edad, con antecedentes de abortos a repetición y óbito fetal, ingresada en esta ocasión, debido a una trombosis venosa profunda del miembro superior derecho, confirmada mediante ecografía Doppler. Se comprobó el diagnóstico de síndrome antifosfolipídico secundario a lupus eritematoso sistémico, sustentado por los elementos clínicos e inmunitarios presentes. La paciente evolucionó satisfactoriamente, con el protocolo terapéutico empleado en fase aguda: heparina de bajo peso molecular del tipo clexane (enoxaparina) 1 mg/kg cada 12 h y dicumarínicos del tipo warfarina 5 mg con una razón normalizada internacional (INR) de 3. Se mantiene actualmente con una dosis de 10 mg/día e hidroxicloroquina 200 mg diarios. Conclusiones: Se resalta la importancia de diagnosticar el síndrome antifosfolipídico, ante toda paciente con abortos espontáneos o muertes perinatales inexplicables. El tratamiento debe ser multidisciplinario y se debe realizar una búsqueda sistemática de afecciones secundarias (particularmente enfermedades difusas del tejido conectivo) antes de calificar al síndrome como primario(AU)

The antiphospholipid or Hughes syndrome, as it is also known, can appear in isolation or in association with other autoimmune diseases such as systemic lupus erythematosus. The association of both entities can cause various complications, such as pulmonary thromboembolism. We present the case of a 28-year-old patient, with a history of repeated abortions and stillbirth, admitted on this occasion due to deep vein thrombosis of the right upper limb, confirmed by Doppler ultrasound. The diagnosis of antiphospholipid syndrome secondary to systemic lupus erythematosus was confirmed, supported by the clinical and immune elements present. The patient evolved satisfactorily, with the therapeutic protocol used in the acute phase, where she initially received treatment with low molecular weight heparin of the type clexane (enoxaparin) 1 mg x kg every 12 hours, and discoumarin drugs of the warfarin type, which she currently maintains at a 5mg dose with an INR of 3. Initially prednisone was placed at a dose of 1mg x kg with good therapeutic response, currently maintaining a 10mg dose. He is also currently on hydroxychloroquine 200 mg daily. Conclusions: The importance of diagnosing the antiphospholipid syndrome is highlighted in all patients with spontaneous abortions or unexplained perinatal deaths. Treatment should be multidisciplinary and a systematic search for secondary conditions (particularly diffuse connective tissue diseases) should be conducted before qualifying the syndrome as primary(AU)

Endocarditis de Libman-Sacks de válvulas nativas derechas en contexto de síndrome antifosfolípido y lupus eritematoso sistémico: ¡cuando el tratamiento marca la diferencia! / Libman-Sacks endocarditis of right native valves in the context of antiphospholipid syndrome and systemic lupus erythematosus: when treatment makes a difference!

We report the case of a 54 years old woman with antiphospholipid syndrome in irregular therapy, admitted due to exertional dyspnea and orthopnea. The transthoracic echocardiogram showed dilated cardiomyopathy with biventricular systolic dysfunction, pulmonary hypertension and masses related to the pulmonary and tricuspid valve without autonomic movement. The crops and white count were normal, with alteration of the SAF test, in addition, SLE was diagnosed. It was started therapy for heart failure, steroids, rituximab and anticoagulation, with improving of the symptoms. The echocardiographic control showed remission of the tricuspid masses and similar dimensions of the pulmonary mass.

Presentamos el caso de una mujer de 54años con síndrome antifosfolípido en terapia irregular, quien ingresa por disnea de esfuerzo que progresó a ortopnea. El ecocardiograma transtorácico evidenció cardiopatía dilatada con disfunción sistólica biventricular, hipertensión pulmonar y masas relacionadas con válvula pulmonar y tricúspide sin movimiento autonómico. Los cultivos y cuenta blanca estaban normales, con alteración de las pruebas del SAF, haciéndose, además, diagnóstico de lupus eritematoso sistémico. Se inició terapia para insuficiencia cardiaca, esteroides, rituximab y anticoagulantes, mejorando la clínica. El ecocardiograma control mostró remisión de las masas tricuspídeas y similares dimensiones de la masa pulmonar.

Antiphospholipid antibody syndrome and infertility / Síndrome anticorpo antifosfolípide e infertilidade

Abstract Antiphospholipid antibody syndrome (APS) is a systemic, autoimmune, prothrombotic disease characterized by persistent antiphospholipid antibodies (aPLs), thrombosis, recurrent abortion, complications during pregnancy, and occasionally thrombocytopenia. The objective of the present study was to review the pathophysiology of APS and its association with female infertility. A bibliographic review of articles of the past 20 yearswas performed at the PubMed, Scielo, and Bireme databases. Antiphospholipid antibody syndrome may be associated with primary infertility, interfering with endometrial decidualization and with decreased ovarian reserve. Antiphospholipid antibodies also have direct negative effects on placentation, when they bind to the trophoblast, reducing their capacity for invasion, and proinflammatory effects, such as complement activation and neutrophil recruitment, contributing to placental insufficiency, restricted intrauterine growth, and fetal loss. In relation to thrombosis, APS results in a diffuse thrombotic diathesis, with global and diffuse dysregulation of the homeostatic balance. Knowing the pathophysiology of APS, which is closely linked to female infertility, is essential for new therapeutic approaches, specialized in immunomodulation andinflammatory signaling pathways, to provide important advances in its treatment.

Resumo A Síndrome do anticorpo antifosfolípide (SAF) é uma doença sistêmica, autoimune e prótrombótica caracterizada por anticorpos antifosfolípides, trombose, aborto recorrente, complicações durante a gestação, e, ocasionalmente, trombocitopenia. O objetivo do presente estudo foi revisar a fisiopatologia da SAF e sua associação com a infertilidade feminina. Foi feita uma revisão bibliográfica dos últimos 20 anos nas bases de dados PubMed, Scielo e Bireme. A SAF pode estar associada à infertilidade primária, interferindo na decidualização endometrial e combaixas reservas ovarianas. Os anticorpos antifosfolípides também apresentam efeito negativo direto na placentação, se ligando ao trofoblasto e diminuindo sua capacidade de invasão, além de efeitos pró-inflamatórios, tais como ativação do sistema de complemento e recrutamento de neutrófilos, contribuindo para a insuficiência placentária, crescimento intrauterino restrito e perda fetal.Quanto a trombose, a SAF resulta em distúrbios trombóticos difusos, com uma desregulação do balanço homeostático. Conhecer a fisiopatologia da SAF, que apresenta associação importante com a infertilidade feminina, é essencial para novas abordagens terapêuticas, principalmente no que tange imunomodulação e os caminhos de ativação inflamatórios.

Antiphospholipid syndrome and neurofibromatosis type I: a coincidence or new association? / Síndrome antifosfolípide e neurofibromatose tipo I: uma coincidência ou nova associação?

ABSTRACT - Numerous studies have reported on structural vascular anomalies and ischemia associated with neurofibromatosis type 1 that are thought to stem from dysfunction of neurofibromin, the neurofibromatosis type 1 protein. Documented cases of associated antiphospholipid syndrome fulfilling the accepted diagnostic criteria are exceptionally rare, with only three cases reported in the literature. Here, we report on a patient with neurofibromatosis type 1 and a history of spontaneous abortions presenting with sudden vision loss in the right eye and swelling of the optic nerve head. Fluorescein angiography indicated anterior ischemic optic neuropathy. Brain magnetic resonance imaging revealed findings consistent with left cavernous sinus meningioma. Serologic testing demonstrated persistently elevated anti-b2-glycoprotein antibodies. Her findings suggested antiphospholipid syndrome with concomitant clinical and laboratory evidence of antiphospholipid syndrome: frequent abortions, a vaso-occlusive episode, and persistently elevated antiphospholipid syndrome antibodies. To our knowledge, this case represents the first neuro-ophthalmic manifestation of antiphospholipid syndrome associated with neurofibromatosis type 1.

RESUMO - Inúmeros estudos têm relatado anomalias vasculares estruturais e isquemia associada com à neurofibromatose tipo 1 que, acredita-se, resultam da disfunção da neurofibromina, a proteína tipo 1 da neurofibromatose. Casos documentados de síndrome antifosfolípide associada que atendem aos critérios diagnósticos aceitos são excepcionalmente raros, com apenas três casos relatados na literatura. Aqui, relatamos um paciente com neurofibromatose tipo 1 e histórico de abortos espontâneos apresentando perda repentina de visão no olho direito e edema de cabeça do nervo óptico. A angiofluoresceínografia indicou neuropatia óptica isquêmica anterior. Ressonância magnética cerebral revelou achados compatíveis com meningioma do seio cavernoso esquerdo. O teste sorológico demonstrou anticorpos anti-b2 glicoproteína persistentemente elevados. Seus achados sugerem síndrome antifosfolípide com evidências clínicas e laboratoriais concomitantes de síndrome antifosfolipídica: abortos frequentes, episódio vaso-oclusivo e anticorpos antifosfolípides persistentemente elevados. Pelo nosso conhecimento, este caso pode representar a primeira manifestação neuro-oftálmica da síndrome antifosfolípide associada à neurofibromatose tipo 1.

Pigmented purpura and cutaneous vascular occlusion syndromes

Abstract: Purpura is defined as a visible hemorrhage in the skin or mucosa, which is not evanescent upon pressure. Proper classification allows a better patient approach due to its multiple diagnoses. Purpuras can be categorized by size, morphology, and other characteristics. The course varies according to the etiology, as do the diagnostic approach and treatment. This review discusses pigmented purpuras and some cutaneous vascular occlusion syndromes.

Retinopatia vaso-oclusiva por lúpus eritematoso sistêmico associada à síndrome do anticorpo antifosfolipídeo / Vaso-occlusive retinopathy by systemic lupus erythematosus associated with the antiphospholipid antibody syndrome

Resumo Relatar um caso de paciente com Retinopatia vaso-oclusiva por Lúpus Eritematoso Sistêmico (LES) associado à Síndrome do Anticorpo Antifosfolipídeo (SAF), que se iniciou com um quadro de anemia hemolítica autoimune acompanhado por baixa visual súbita monocular. Poucos casos foram descritos na literatura nacional e mundial em que o LES se manifeste primeiramente com alterações oculares. O screening dos Anticorpos antifosfolípideos (APAs) é de suma importância para pacientes com retinopatia lúpica para que seja instituída a terapia imediata com anticoagulantes como forma de prevenir a trombose vascular, o que piora o prognóstico visual.

Abstract To report the case of a patient with vaso-occlusive retinopathy due to systemic lupus erythematosus (SLE) associated with antiphospholipid antibody syndrome (APAS), which started with signs and symptoms of autoimune hemolytic anemia accompanied by sudden monocular visual loss. Few cases of SLE manifestation primarily involving ocular changes have been reported in the Brazilian and international literature. Screening for antiphospholipid antibodies is of the greatest importance for patients with lupus retinopathy, so that immediate therapy with anticoagulants may be instituted in order to prevent vascular thrombosis, which worsens the visual prognosis.

Sindrome antifosfolipídico en pediatría: a proposito de un caso clinico / Antiphospholipid syndrome in Pediatrics: a case report

Elsíndromeantifosfolipídicoes unaenfermedadautoinmunitaria en la cual se producen de forma persistente autoanticuerpos contra una variedad de fosfolípidos y proteínas transportadoras de estos. Ocurre en el 1, 8% de la población y solo el 2% de los casos son pediátricos. El espectro de manifestaciones clínicas es amplio: desde pacientes asintomáticos hasta una enfermedad amenazante para la vida como es el síndrome antifosfolipídico catastrófico. Cualquier órgano puede verse afectado como consecuencia de la trombosis a nivel de los grandes vasos o la microcirculación. Las manifestaciones más frecuentes en pediatría corresponden a trombosis venosas en el 60% de los pacientes, trombosis arterial en el 32%, alteraciones hematológicas en el 38% (plaquetopenia, leucopenia), alteraciones en la piel en el 18% (livedo reticularis, fenómeno de Raynaud) y alteraciones neurológicas en el 16%. Se presenta el caso clínico de una paciente pediátrica por la baja incidencia a esta edad.

The antiphospholipid syndrome is a multisystem autoimmune disease in which autoantibodies against a variety of phospholipids and phospholipid binding proteins are produced. It occurs in 1.8% of the population and only 2% of the cases are pediatric. The spectrum of clinical manifestations is wide from asymptomatic patients to a life-threatening disease like the catastrophic antiphospholipid syndrome. Any organ can be affected. The most frequent manifestations in pediatrics correspond to venous thrombosis in 60% of patients, arterial thrombosis in 32%, hematological disease in 38% (thrombocytopenia, leucopenia), skin alterations in 18% (livedo reticularis, Raynaud's phenomenon) and neurological signs in 16%. We describe the case of a previously healthy 14-year-old female patient diagnosed with antiphospholipid syndrome.

Update on antiphospholipid antibody syndrome / Atualização da síndrome do anticorpo antifosfolípide

Summary Antiphospholipid syndrome (APS) is an autoimmune disease characterized by antiphospholipid antibodies (aPL) associated with thrombosis and/or pregnancy morbidity. Most APS events are directly related to thrombotic events, which may affect small, medium or large vessels. Other clinical features like thrombocytopenia, nephropathy, cardiac valve disease, cognitive dysfunction and skin ulcers (called non-criteria manifestations) add significant morbidity to this syndrome and represent clinical situations that are challenging. APS was initially described in patients with systemic lupus erythematosus (SLE) but it can occur in patients without any other autoimmune disease. Despite the autoimmune nature of this syndrome, APS treatment is still based on anticoagulation and antiplatelet therapy.

Resumo A síndrome antifosfolipídide (APS) é uma doença autoimune caracterizada por tromboses e morbidade gestacional associadas à positividade de antiphospholipid antibodies (aPL). A maioria das manifestações da APS está diretamente relacionada aos eventos trombóticos, que podem afetar pequenos, médios ou grandes vasos. Outras manifestações como trombocitopenia, nefropatia, valvulopatia, disfunção cognitiva e úlceras cutâneas (chamadas de manifestações não critérios) agregam significativa morbidade e muitas vezes são refratárias ao tratamento convencional. Embora tenha sido inicialmente descrita em pacientes com lúpus eritematoso sistêmico (LES), a síndrome antifosfolípide também pode ocorrer em pacientes sem outras doenças autoimunes associadas. Apesar do caráter autoimune dessa síndrome, o tratamento da APS ainda é baseado na anticoagulação e na antiagregação plaquetária.

Síndrome antifosfolípido catastrófico: caso clínico / Catastrophic antiphospholipid syndrome: clinical case

El síndrome antifosfolípido (SAF) fue descrito y caracterizado durante la segunda mi-tad del siglo XX inicialmente como un fenómeno protrombótico secundario en con-texto de otras enfermedades del tejido conectivo, principalmente lupus. Sin embargo, el estudio de pacientes con enfermedad primaria impulsó a distintos consensos, tan-to clínicos como de laboratorio para su correcta identificación. Entre los pacientes con SAF destaca la forma de presentación catastrófica, de baja prevalencia, pero impor-tante por su mal pronóstico, caracterizada por el compromiso de múltiples sistemas en corto tiempo. Presentamos el caso de una paciente del Hospital Clínico San Borja-Arriarán con diag-nóstico de SAF primario, que presentó en su evolución la forma catastrófica. Este caso sirve de base para una revisión del proceso diagnóstico del SAF en relación a otras patologías reumatológicas y las características propias del SAF catastrófico.

Antiphospholipid syndrome (APS) was described and characterized during the second half of the 20th century initially as a secondary prothrombotic phenome-non in the context of other connective tissue diseases, mainly lupus. However, the study of patients with primary disease prompted different consensus, both clin-ical and laboratory for their correct identification. Among patients with APS, the catastrophic presentation is of low prevalence, but important because of its poor prognosis, characterized by the commitment of multiple systems in a short time. We present the case of a patient from the San Borja-Arriaran Clinic Hospital with di-agnosis of primary APS, which presented the catastrophic form in its evolution. This case serves as a basis for a review of the diagnostic process of APS in relation to other rheumatologic pathologies and the characteristics of catastrophic APS.

Síndrome antifosfolípido catastrófico / Catastrophic antiphospholipid syndrome

El síndrome antifosfolípido está definido por la combinación de manifestaciones clínicas trombóticas y/u obstétricas y un título persistentemente alto y significativo de anticuerpos antifosfolípidos. La presencia de múltiples trombos en lechos vasculares pequeños que lleva a falla multiorgánica, simultáneamente o en menos de 1 semana, define al síndrome antifosfolípido catastrófico el cual conlleva alta mortalidad; sin embargo, la sospecha diagnóstica y la institución temprana del tratamiento, definitivamente inciden en el pronóstico de éstos pacientes(AU)

Antiphospholipid syndrome is defined by the combination of thrombotic and/or obstetric clinical manifestations and a persistently high and significant title of antiphospholipid antibodies. The presence of multiple thrombi in small vascular beds leading to multi-organ failure that occurs simultaneously or in less than 1 week, and defines the catastrophic antiphospholipid syndrome which carries high mortality, The suspected diagnosis and early treatment affects the prognosis of these patients(AU)