ABSTRACT
La seudomicroangiopatía trombótica o síndrome de Moschcowitz es una manifestación infrecuente del déficit de vitamina B12. Se caracteriza por anemia hemolítica con características microangiopáticas, reticulocitos e índices hematimétricos normales o con ligera megaloblastosis, asociados a manifestaciones neurológicas. La vitamina B12 está presente en alimentos proteicos de origen animal. La lactancia materna es una fuente adecuada para los niños cuando los niveles maternos son normales. Se presenta a una paciente de 16 meses que se internó por anemia hemolítica con requerimiento transfusional, plaquetopenia, mal progreso pondoestatural y retraso neuromadurativo. Durante su internación se arribó al diagnóstico de seudomicroangiopatía trombótica secundaria a déficit de vitamina B12.
Pseudo-thrombotic microangiopathy, or Moschcowitz syndrome, is a rare manifestation of vitamin B12 deficiency. It is characterized by microangiopathic hemolytic anemia, reticulocytes, and hematimetric indices that can be normal or that might present a mild megaloblastosis, and which are associated with neurological manifestations. Vitamin B12 can be found in animal-based protein foods. Breastfeeding is an adequate source of this vitamin for children, when maternal serum levels are normal. The case of a 16-month-old infant is presented. She was admitted for hemolytic anemia with transfusion requirement, thrombocytopenia, failure to thrive and developmental delay. During her hospitalization, she was diagnosed with pseudothrombotic microangiopathy caused by vitamin B12 deficiency.
Subject(s)
Humans , Female , Infant , Vitamin B 12 Deficiency/complications , Thrombotic Microangiopathies/diagnosis , Vitamin B 12 Deficiency/therapy , Anemia, Hemolytic/bloodABSTRACT
Resumen El sistema del complemento juega un papel central en la inmunidad innata, es una línea de defensa contra patógenos y participa en la homeostasis. La activación anormal del complemento contribuye al desarrollo de patologías de variable severidad, tanto inmunológicas y hematológicas como renales. Entre ellas, las microangiopatías trombóticas (MAT) representan un grupo de enfermedades raras con manifestaciones clínicas comunes caracterizadas por anemia hemolítica no inmune, trombocitopenia y daño de órgano(s) blanco. Si bien la clasificación de las MAT sigue siendo desafiante y no ha sido internacionalmente estandarizada, la descripción de entidades asociadas a anomalías del complemento fue comprobada con la eficiencia de la terapia anticomplemento en los pacientes. Las herramientas de diagnóstico desarrolladas en las últimas décadas son esenciales actualmente para diferenciar las MAT más características del grupo; esto es, la púrpura trombótica trombocitopénica (PTT) y el síndrome urémico hemolítico (SUH). En el presente trabajo se presenta una revisión del funcionamiento del sistema del complemento en condiciones fisiológicas, para poder explicar luego cuáles son las alteraciones del sistema implicadas en el desarrollo de las MAT y describir las herramientas disponibles para detectarlas en el laboratorio.
Abstract The complement system plays a crucial role in the innate immune response, being the first-line defense against pathogens and regulating homeostasis. Uncontrolled complement activation can cause immunologic, hematologic as well as renal syndromes of variable severity. Among them, thrombotic microangiopathies (TMA) represent a group of rare diseases characterised by similar clinical manifestations such as microangiopathic hemolytic anemia (MAHA), peripheral thrombocytopenia and organ injury. Although TMA classification is still challenging and no international consensus has been reached, complement-associated disorders have been described thanks to the efficiency of anti-complement therapy in patients. Diagnostic tools developed in the last decades are essential to differentiate the two most well characterized TMA: thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome (HUS). This review will describe how the complement system works in physiological conditions in order to explain how complement abnormalities are involved in TMA, and finally how to detect those anomalies using laboratory tests.
Resumo O sistema do complemento desempenha um papel central na imunidade inata, sendo uma linha de defesa contra patógenos e participando da homeostase. A ativação anormal do complemento contribui para o desenvolvimento de patologias de gravidade variável, como imunológicas, hematológicas e renais. Entre elas, as microangiopatias trombóticas (MAT) representam um grupo de doenças raras com manifestações clínicas comuns caracterizadas por anemia hemolítica não imune, trombocitopenia e lesão de órgão(s) alvo. Embora a classificação das MAT continue sendo desafiadora e não tenha sido padronizada internacionalmente, a descrição de entidades associadas a anomalias do complemento foi comprovada com a eficiência da terapia anticomplemento nos pacientes. As ferramentas de diagnóstico desenvolvidas nas últimas décadas são atualmente essenciais para diferenciar as MAT mais características do grupo, que são a púrpura trombocitopênica trombótica (PTT) e a síndrome hemolítica urêmica atípica (SHU). Neste trabalho, é apresentada uma revisão do funcionamento do sistema de complemento em condições fisiológicas, a fim de explicar posteriormente quais são as alterações do sistema compreendidas no desenvolvimento das MAT, e descrever as ferramentas disponíveis para detectá-las em laboratório.
Subject(s)
Humans , Biomarkers/analysis , Complement Activation/physiology , Thrombotic Microangiopathies/diagnosis , Thrombocytopenia/diagnosis , Atypical Hemolytic Uremic Syndrome/diagnosis , Homeostasis , Anemia, Hemolytic/diagnosisABSTRACT
Abstract Livedoid Vasculopathy is a disease characterized by occlusion of the capillaries of the dermis, without inflammatory signs. It begins with purpuric papules or macules that develop into painful ulcers, mainly involving the ankles and feet. In this case report, we describe diagnosis and treatment in a young pregnant patient, with excellent clinical response.
Resumo A vasculopatia livedoide é uma doença caracterizada pela oclusão dos capilares da derme, sem sinais inflamatórios. Tem início com pápulas ou máculas purpúricas que evoluem para úlceras dolorosas, com predominância na topografia de tornozelos e pés. Neste relato de caso, descrevemos o diagnóstico e a terapêutica em uma paciente jovem gestante, com excelente evolução clínica.
Subject(s)
Humans , Female , Pregnancy , Adult , Livedoid Vasculopathy , Anticoagulants/therapeutic use , Vasculitis/diagnosis , Venous Insufficiency/diagnosis , Diagnosis, Differential , Thrombotic Microangiopathies/diagnosis , Peripheral Arterial Disease/diagnosisABSTRACT
ABSTRACT Introduction: Purpura fulminans (PF) is a rapid progressive thrombotic disease in which hemorrhagic infarction of the skin and disseminated intravascular coagulation (DIC) occurs. It can potentially cause acute kidney injury (AKI). However, there is no description in the medical literature of renal histological findings of PF. Case report: A 20-year-old female patient, previously healthy, was admitted to the emergency department (ED) with odynophagia, fever, generalized myalgia and anuria, which evolved with the appearance of purpuric plaques on the face and limbs. She required dialysis on admission. Laboratorial tests showed anemia, leukocytosis, thrombocytopenia, and elevation of lactic dehydrogenase (LDH). The purpuric lesions became bullous with ruptures and then necrotic and erosive, reaching the dermis, subcutaneous tissue and musculature, until bone exposure. There was no improvement with initial antibiotic therapy aimed at the treatment of meningococcemia. Thrombotic microangiopathy (TMA) and PF were then suspected. The patient remained in daily dialysis, requiring plasmapheresis. After sustained improvement of the thrombocytopenia, she underwent renal biopsy, which was not compatible with TMA, characterizing possible PF. A complete recovery of the renal function was achieved and cutaneous sequels were treated with grafts. Conclusion: When thrombotic and hemorrhagic phenomena overlap, obtaining a renal biopsy can be difficult. However, in the presented case, the biopsy allowed the exclusion of AKI caused by TMA, presenting for the first time, histological findings compatible with PF.
RESUMO Introdução: Purpura Fulminans (PF) é uma doença trombótica de rápida progressão, com infarto hemorrágico da pele e coagulação intravascular disseminada (CIVD). É potencialmente causadora de injúria renal aguda (IRA). Porém, não há descrição na literatura médica dos achados histológicos renais causados por PF. Relato de caso: Mulher, 20 anos, previamente hígida, hospitalizada por odinofagia, febre, mialgia generalizada e anúria, evoluiu com aparecimento de placas purpúricas em face e membros. Necessitou de hemodiálise (HD) já na admissão. Exames laboratoriais mostravam anemia, leucocitose, plaquetopenia e elevação de desidrogenase lática. As lesões purpúricas tornaram-se bolhosas com rompimento e progressão para necrose, se aprofundaram, atingindo derme, subcutâneo e musculatura, até a exposição óssea. Não houve melhora com antibioticoterapia inicial voltada para tratamento de meningococemia. Suspeitou-se, então, de microangiopatia trombótica (MAT) e PF. A paciente permaneceu em HD diária e necessitou também de plasmaférese, após melhora sustentada da plaquetopenia, foi submetida à biópsia renal, que não foi compatível com MAT, possivelmente caracterizando PF. Houve recuperação completa da função renal e as sequelas cutâneas foram tratadas com enxerto. Conclusão: Em casos nos quais os fenômenos trombóticos e hemorrágicos se sobrepõem, a obtenção da biópsia renal se torna difícil. Neste caso, a biópsia permitiu excluir IRA causada por MAT e mostrar, pela primeira vez, achados compatíveis com PF.
Subject(s)
Humans , Female , Young Adult , Purpura Fulminans/complications , Purpura Fulminans/diagnosis , Thrombotic Microangiopathies/complications , Thrombotic Microangiopathies/diagnosis , Acute Kidney Injury/complications , Acute Kidney Injury/pathology , Kidney/pathology , Biopsy , Renal Dialysis , Plasmapheresis , Skin Transplantation , Treatment Outcome , Acute Kidney Injury/therapy , Length of StayABSTRACT
Pulmonary tumor embolism is commonly discovered at autopsy, but is rarely suspected ante-mortem. Microangiopathy is an uncommon and distinct form of simple tumor pulmonary embolism. Here, we present a 52-year-old male with tumor thrombotic microangiopathy and pulmonary infarction, which might have originated from intraductal papillary mucinous tumor of the pancreas. Multiple wedge-shaped consolidations were found initially and aggravated with cavitation. These CT features of pulmonary infarction were pathologically confirmed to result from pulmonary tumor thrombotic microangiopathy.
Subject(s)
Humans , Male , Middle Aged , Adenocarcinoma, Mucinous/pathology , Lung/pathology , Lung Neoplasms/pathology , Pancreas/pathology , Pancreatic Neoplasms/complications , Papilloma, Intraductal/pathology , Pulmonary Embolism/pathology , Pulmonary Infarction/pathology , Thrombotic Microangiopathies/diagnosis , Tomography, X-Ray ComputedABSTRACT
El Síndrome Púrpura Trombótico Trombocitopénico/Síndrome Hemolítico Urémico (PTT/SHU) es la principal causa de Microangiopatía Trombótica (MAT) en pacientes con Lupus Eritematoso Sistémico (LES). Entre sus manifestaciones destacan la presencia de anemia hemolítica autoinmune, con trombocitopenia y falla renal en grados variables. No existe correlación entre los niveles de actividad de ADAMTS 13 y MAT. Presentamos un caso clínico de MAT asociado a LES. Se debe tener una alta sospecha diagnóstica por la sobreposición de las manifestaciones clínicas de PTT/SHU y LES. El tratamiento con plasmaféresis ha disminuido la mortalidad de 90 por ciento a 15 por ciento. En casos refractarios se ha reportado el uso de Rituximab, aunque aún falta evidencia que lo avale.
The thrombotic Thrombocytopenic Purpura Syndrome / Hemolytic Uremic Syndrome (TTP/HUS) is the main cause behind Thrombotic Microangiopathy (TMA) in patients with Systemic Lupus Erythematosus (SLE). Among the ways in which it manifests itself is the presence of autoimmune hemolytic anemia (AIHA), with thrombocytopenia and kidney failure in various degrees. There is no co-relation between the levels of activity of ADAMTS13 and TMA. We present a clinical case of TMA associated to SLE. A high suspicion is paramount for diagnose due to the overlapping of clinical manifestations of TTP/HUS and SLE. Treatment with plasmapheresis has decreased mortality from 90 percent to 15 percent. Use of Rituximab in refractory cases has been reported, albeit a lack of supporting evidence.