A púrpura trombocitopênica trombótica congênita é a forma hereditária de púrpura trombocitopênica trombótica (PTT) caracterizada por trombocitopenia periférica profunda, anemia hemolítica microangiopática (MAHA) e falência de órgão único ou múltiplo de gravidade variável.
Introdução
O que você precisa saber de cara
A púrpura trombocitopênica trombótica congênita é a forma hereditária de púrpura trombocitopênica trombótica (PTT) caracterizada por trombocitopenia periférica profunda, anemia hemolítica microangiopática (MAHA) e falência de órgão único ou múltiplo de gravidade variável.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 11 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 21 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation
Secreted
Thrombotic thrombocytopenic purpura, hereditary
An autosomal recessive hematologic disease characterized by hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and non-focal neurologic findings, decreased renal function and fever.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
209 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
5 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Púrpura trombocitopenia trombótica congênita, por deficiência de ADAMTS-13
Centros de Referência SUS
24 centros habilitados pelo SUS para Púrpura trombocitopenia trombótica congênita, por deficiência de ADAMTS-13
Centros para Púrpura trombocitopenia trombótica congênita, por deficiência de ADAMTS-13
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
11 ensaios clínicos encontrados, 5 ativos.
Publicações mais relevantes
Optimizing ADAMTS13 prophylaxis to reduce relapse and organ failure in congenital thrombotic thrombocytopenic purpura.
Congenital thrombotic thrombocytopenic purpura (cTTP) is caused by a severe inherited ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type 1 motif, member 13) deficiency. Although acute episodes are life-threatening, long-term burden of ischemic complications, and effectiveness of prophylactic strategies remain underexplored. We conducted a 25-year national, multicenter study of 88 patients with cTTP enrolled in the French Thrombotic Microangiopathy registry. Patients were stratified by age and clinical context at disease onset: pediatric (n = 42), pregnancy (n = 33), and adult onset (n = 13). Clinical features, genotypes, treatment regimens, and long-term ischemic outcomes were analyzed. Pediatric patients exhibited early-onset disease (median age at diagnosis, 2 years [interquartile range, 0-13]) with recurrent episodes and a high burden of neurological complications. In patients with pregnancy-onset disease, no relapses were observed outside pregnancy. Adult-onset patients, typically diagnosed aged >50 years, showed prevalent cardiovascular disease, stroke, and kidney injury. Mental health disorders were common across all groups. Despite long-term plasma prophylaxis, organ dysfunction persisted, particularly in pediatric- and adult-onset groups. In pregnancy-onset cTTP, tailored midterm prophylaxis during pregnancy reduced maternal and fetal complications. Thirty-nine patients received recombinant human ADAMTS13 (rhADAMTS13) prophylaxis (median follow-up, 5 months [interquartile range, 6-17]). Prophylactic treatment significantly improved relapse-free survival, with a comparable outcome using intensive plasma-derived products and rhADAMTS13 in pediatric-onset cases, although adverse events were more prevalent using plasma therapy. Our findings highlight the clinical and genetic heterogeneity of cTTP and the burden of organ dysfunction. Intensive prophylaxis improves relapse-free survival. rhADAMTS13 represents a safe and promising first-line option that should help reduce long-term organ damage and improve quality of life.
Thrombotic thrombocytopenic purpura in pregnancy: Lessons from a case series of three patients.
Thrombotic thrombocytopenic purpura is a rare but life-threatening complication during pregnancy. Historically, maternal mortality exceeded 90% before the introduction of therapeutic plasma exchange, which remains the cornerstone of treatment. Rituximab has become increasingly valuable in managing refractory or relapsing disease, even during pregnancy, by reducing the risk of future episodes. In severe or recurrent cases, caplacizumab provides rapid control of acute thrombotic thrombocytopenic purpura by inhibiting platelet-von Willebrand factor interaction, although its use in pregnancy remains limited. Monitoring ADAMTS13 activity is essential to distinguish congenital from acquired thrombotic thrombocytopenic purpura, guide treatment decisions, and prevent relapses. This case series describes one acquired and two congenital thrombotic thrombocytopenic purpura cases in pregnancy, including a severe relapsing case successfully treated with caplacizumab. These cases underscore the importance of early diagnosis, individualized treatment, multidisciplinary care, and proactive management to optimize maternal and neonatal outcomes.
Pregnancy-Associated Thrombotic Thrombocytopenic Purpura: Diagnostic Pitfalls, Therapeutic Strategies, and Emerging Paradigms.
Background: Thrombotic thrombocytopenic purpura (TTP) is a rare but life-threatening thrombotic microangiopathy (TMA) caused by severe deficiency of the von Willebrand factor-cleaving protease ADAMTS13. Pregnancy is a recognized trigger for both immune-mediated and congenital TTP and is associated with increased maternal and fetal morbidity. Clinical overlap with other pregnancy-associated TMAs, including preeclampsia and Hemolysis, Elevated Liver enzymes, and Low Platelet count (HELLP) syndrome, often delays diagnosis. This review synthesizes current evidence on pathophysiology, diagnostic uncertainty, and gestation-specific management of pregnancy-associated TTP, highlighting differences between immune-mediated and congenital disease. Methods: This is a narrative review. We performed a targeted literature search of PubMed/MEDLINE (from inception to December 2025) to identify English-language publications. The study types included were case reports/series, observational studies, large database studies, randomized trials, reviews, and relevant guidelines addressing TMA in pregnancy, with emphasis on immune-mediated and congenital TTP. Search terms included "pregnancy", "thrombotic thrombocytopenic purpura", "hereditary TTP", "acquired TTP", "ADAMTS13," "thrombotic microangiopathy," "HELLP," "postpartum", and "complement-mediated TMA" alone or in combination. The search was supplemented by manual screening of reference lists and key guidelines. Articles were selected based on relevance to diagnosis and management of pregnancy-associated TTP. Conference abstracts and non-peer-reviewed sources were not routinely included and were considered only when peer-reviewed evidence was limited. Results: Pregnancy-associated TTP remains a major diagnostic challenge due to overlapping clinical and laboratory features with other obstetric thrombotic microangiopathies. Distinguishing immune-mediated from congenital TTP is essential, as management and prognosis differ substantially. Prompt recognition and early initiation of therapeutic plasma exchange, immunosuppression, or prophylactic plasma therapy markedly improve maternal outcomes. Rapid ADAMTS13 testing, structured risk stratification, and multidisciplinary care are central to optimal management. Fetal outcomes are closely linked to gestational age at onset and timeliness of therapy. Conclusions: Early differentiation of TTP from other pregnancy-associated TMAs is critical for maternal and fetal survival. Advances in rapid ADAMTS13 diagnostics and emerging targeted therapies, including caplacizumab and recombinant ADAMTS13, offer opportunities to improve precision management and outcomes in future pregnancies.
Recombinant ADAMTS13: An Enzyme Replacement Therapy for the Management of Congenital Thrombotic Thrombocytopenic Purpura.
Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare autosomal recessive condition that causes deficiency of the von Willebrand factor (vWF)-cleaving metalloprotease, a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13). Traditionally, cTTP has been managed with plasma infusions, whether in the acute or prophylactic settings; however, there are various limitations and risks associated with this treatment modality. Recombinant ADAMTS13 (rADAMTS13) is the first FDA-approved product for management of cTTP. A phase III study compared rADAMTS13 to standard of care in which patients initially received prophylactic rADAMTS13 or plasma therapy, then crossed over to the alternative therapy. Patients receiving prophylactic rADAMTS13 had no acute cTTP events and lower rates of cTTP manifestations compared to standard of care. This article reviews the pharmacology, pharmacokinetics, efficacy, safety, dosing, administration, and implications for advanced practitioners of rADAMTS13 for the management of cTTP.
Genetics of thrombotic thrombocytopenic purpura: systematic review in immune and congenital thrombotic thrombocytopenic purpura.
Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy caused by severe deficiency of the metalloprotease ADAMTS13. TTP has 2 subtypes: immune (iTTP) and congenital (cTTP). Autoimmune mechanisms underlie iTTP; however, the genetic factors influencing disease risk, relapse risk, and response to treatment are incompletely understood. In cTTP, although variants are described throughout the ADAMTS13 gene, the effect of many of these variants is uncertain. We conducted a comprehensive literature review of both iTTP and cTTP, incorporating findings from genome-wide association studies, case-control studies, registry publications, and population-level databases. In iTTP, 9 studies have investigated the effect of HLA alleles, with HLA-DRB1∗11 most consistently associated with an increased risk, and HLA-DRB1∗04 with protection. However, effect sizes varied across ancestral populations, as we highlight in a meta-analysis of available studies. Beyond the HLA locus, a genome-wide association study in iTTP patients with European ancestry identified a locus on chromosome 3 (rs9884090) associated with a reduced iTTP risk. In cTTP, we identified 364 variants within the literature, the majority (199, 54.7%) being missense variants within coding regions. Although variants are located across the gene, the highest density of variants was observed within exon 7 (32 variants, 8.8% of the total), corresponding to the metalloprotease domain. Finally, analysis of population-level constraint data from gnomAD offered additional insight into the tolerance of ADAMTS13 to variation. Together, these findings highlight the complexity of the genetic factors influencing TTP, and the value of combining clinical information and population data to increase understanding of the disease.
Publicações recentes
Thrombotic thrombocytopenic purpura in pregnancy: Lessons from a case series of three patients.
Pregnancy-Associated Thrombotic Thrombocytopenic Purpura: Diagnostic Pitfalls, Therapeutic Strategies, and Emerging Paradigms.
Recombinant ADAMTS13: An Enzyme Replacement Therapy for the Management of Congenital Thrombotic Thrombocytopenic Purpura.
Genetics of thrombotic thrombocytopenic purpura: systematic review in immune and congenital thrombotic thrombocytopenic purpura.
Is congenital thrombotic thrombocytopenic purpura a risk factor for ischemic osteonecrosis of the hip joint (Legg-Calvé-Perthes disease)?
📚 EuropePMC123 artigos no totalmostrando 115
Thrombotic thrombocytopenic purpura in pregnancy: Lessons from a case series of three patients.
The Journal of international medical researchPregnancy-Associated Thrombotic Thrombocytopenic Purpura: Diagnostic Pitfalls, Therapeutic Strategies, and Emerging Paradigms.
BiomedicinesRecombinant ADAMTS13: An Enzyme Replacement Therapy for the Management of Congenital Thrombotic Thrombocytopenic Purpura.
Journal of the advanced practitioner in oncologyGenetics of thrombotic thrombocytopenic purpura: systematic review in immune and congenital thrombotic thrombocytopenic purpura.
Journal of thrombosis and haemostasis : JTHIs congenital thrombotic thrombocytopenic purpura a risk factor for ischemic osteonecrosis of the hip joint (Legg-Calvé-Perthes disease)?
Thrombosis journalOptimizing the management of congenital thrombotic thrombocytopenic purpura.
Research and practice in thrombosis and haemostasisGenotype-Phenotype Variability in Congenital Thrombotic Thrombocytopenic Purpura (TTP): Two Novel ADAMTS13 Variants.
CureusModern management of congenital thrombotic thrombocytopenic purpura (cTTP).
Hematology. American Society of Hematology. Education Program"Recombinant a disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13 (ADAMTS-13) for acute and prophylactic treatment of congenital thrombotic thrombocytopenic purpura in pregnancy": comment.
Journal of thrombosis and haemostasis : JTHReduced half-life of recombinant ADAMTS13 in a patient with cTTP undergoing total hip arthroplasty.
Thrombosis journalUpdated ISTH thrombotic thrombocytopenic purpura guidelines 2025-a bridge to the future for congenital thrombotic thrombocytopenic purpura.
Journal of thrombosis and haemostasis : JTHZebrafish model reveals developmental and hematopoietic functions of ADAMTS13.
Biology openReal-world safety and efficacy of rADAMTS13 prophylaxis in congenital thrombotic thrombocytopenic purpura: experience from Polish patients previously treated with fresh frozen plasma.
HaematologicaOptimizing ADAMTS13 prophylaxis to reduce relapse and organ failure in congenital thrombotic thrombocytopenic purpura.
Blood advancesLong-term follow-up outcomes in congenital thrombotic thrombocytopenic purpura.
BloodRare onset of congenital thrombotic thrombocytopenic purpura during pregnancy: A novel ADAMTS13 gene variant.
TransfusionSevere congenital thrombotic thrombocytopenic purpura in pregnancy complicated by eclampsia.
BMJ case reportsCharacterization of autopsy findings including multivisceral glomeruloid vascular bodies in hereditary thrombotic thrombocytopenic purpura with two new variants in ADAMTS13 gene.
Virchows Archiv : an international journal of pathologyNovel ADAMTS13 Mutation in a Patient With Congenital TTP Diagnosed in Pregnancy.
American journal of hematologyCongenital thrombotic thrombocytopenic purpura: a rare cause of severe neonatal jaundice and hypoxic respiratory failure - a case report.
Case reports in perinatal medicinePreferences of Patients With cTTP and Other Chronic Conditions for At-Home Prophylactic Infusions: A Discrete Choice Experiment.
Journal of patient experienceQuantitative Systems Pharmacology Modeling of Platelet Responses to Recombinant ADAMTS13 in Patients With Congenital Thrombotic Thrombocytopenic Purpura.
CPT: pharmacometrics & systems pharmacologyUse of PopPK and E-R Analyses toward Explaining Causal Link Between ADAMTS13 in Recombinant vs. Plasma-Based Therapies and Clinical Effects in cTTP.
Clinical pharmacology and therapeuticsRecombinant a disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13 (ADAMTS-13) for acute and prophylactic treatment of congenital thrombotic thrombocytopenic purpura in pregnancy.
Journal of thrombosis and haemostasis : JTHTherapeutic switch from plasma to recombinant ADAMTS13 for patients with congenital TTP from Japanese real-world data.
BloodProphylactic use of recombinant ADAMTS-13 during pregnancy for congenital thrombotic thrombocytopenic purpura.
Research and practice in thrombosis and haemostasisEffect of blood groups on acquired and congenital thrombotic thrombocytopenic purpura and clinical correlation: Multi-center Turkish cohort study.
Hematology, transfusion and cell therapyCongenital thrombotic thrombocytopenic purpura and human leukocyte antigen analysis-an amazing clue.
Hematology, transfusion and cell therapyA compound heterozygous ADAMTS13 mutation causes congenital thrombotic thrombocytopenic purpura: a case report.
Frontiers in medicinePlasma Exchange and N-Acetylcysteine Therapy in a Case of Congenital Thrombotic Thrombocytopenic Purpura Presenting With Acute Renal Failure.
Journal of pediatric hematology/oncologyReal-world safety and efficacy of rADAMTS13 in the treatment of congenital thrombotic thrombocytopenic purpura in pediatric patients in Poland.
Journal of thrombosis and haemostasis : JTH[Management of congenital thrombotic thrombocytopenic purpura in the era of recombinant ADAMTS13 protein: Recommendations from the Reference Center for Thrombotic Microangiopathies (CNR-MAT)].
La Revue de medecine interneDetection of novel duplication variant in ADAMTS13 gene using chromosomal microarray analysis.
BMJ case reportsRecombinant ADAMTS13 in Congenital Thrombotic Thrombocytopenic Purpura.
The New England journal of medicineA Case of Pregnancy-Induced Hereditary Thrombotic Thrombocytopenic Purpura Complicated by Cerebral Vasospasm.
Clinical laboratory[Congenital thrombotic thrombocytopenic purpura diagnosed in adulthood after repeated thrombocytopenia since neonatal period].
[Rinsho ketsueki] The Japanese journal of clinical hematologyOpen ADAMTS-13 conformation index predicts earlier relapse in immune-mediated thrombotic thrombocytopenic purpura.
Journal of thrombosis and haemostasis : JTHNovel ADAMTS13 mutations in a patient with congenital thrombotic thrombocytopenic purpura.
Hematology (Amsterdam, Netherlands)Congenital Thrombotic Thrombocytopenic Purpura: A Rare Cause of Recurrent Thrombocytopenia and Anemia.
CureusPsychometric evaluation of a patient-reported outcomes instrument for congenital thrombotic thrombocytopenic purpura.
Journal of patient-reported outcomesCongenital thrombotic thrombocytopenic purpura masquerading as vitamin B12 deficiency.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for HaemapheresisClinical Manifestations, Current and Future Therapy, and Long-Term Outcomes in Congenital Thrombotic Thrombocytopenic Purpura.
Journal of clinical medicineFirst description of atrial fibrillation and congenital thrombotic thrombocytopenic purpura treated by left atrial appendage occlusion.
EJHaem[Clinical diagnosis and treatment of hereditary thrombocytopenia and purpura: a report of five cases and literature review].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiIn vitro characterization of a novel Arg102 mutation in the ADAMTS13 metalloprotease domain.
Journal of thrombosis and haemostasis : JTHToward gene therapy for congenital thrombotic thrombocytopenic purpura.
Journal of thrombosis and haemostasis : JTHHypercoagulability and Inflammatory Markers in a Case of Congenital Thrombotic Thrombocytopenic Purpura Complicated by Fetal Demise.
Journal of clinical medicineUnusually high ADAMTS13 activity in a patient with congenital thrombotic thrombocytopenic purpura.
British journal of haematologyHereditary thrombotic thrombocytopenic purpura and COVID-19: Impacts of vaccination and infection in this rare disease.
Research and practice in thrombosis and haemostasisCaplacizumab for congenital thrombotic thrombocytopenic purpura.
American journal of hematologyCarriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19.
Viruses[Advance in the diagnosis and treatment of hereditary thrombotic thrombocytopenic purpura].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsNo aggravation of congenital thrombotic thrombocytopenic purpura by mRNA-based vaccines against COVID-19: a Japanese registry survey.
Annals of hematologyDelayed diagnosis of congenital thrombotic thrombocytopenic purpura in a patient with recurrent strokes.
Journal of thrombosis and thrombolysisUnderstanding treatment response in congenital thrombotic thrombocytopenic purpura to aid in pregnancy counseling and management.
American journal of obstetrics and gynecologyTreatment response in congenital thrombotic thrombocytopenic purpura to aid in pregnancy counseling and management: a reply.
American journal of obstetrics and gynecologyFirst report of COVID-19 vaccine induced flare of compensated congenital thrombotic thrombocytopenic purpura.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisBilateral Ischemic Retinopathy Associated With Upshaw-Schulman Syndrome: A Case Report.
Journal of vitreoretinal diseasesInfection as Trigger for Congenital Thrombotic Thrombocytopenic Purpura in an Adult Patient.
Journal of medical casesDe Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura.
Case reports in hematology[Treatment of thrombotic thrombocytopenic purpura].
Terapevticheskii arkhivCurrent prophylactic plasma infusion protocols do not adequately prevent long-term cumulative organ damage in the Japanese congenital thrombotic thrombocytopenic purpura cohort.
British journal of haematology[Recurrent thrombocytopenia with hemolytic anemia in a boy aged 3 years].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsA successfully treated case of an acute presentation of congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) with decreased ADAMTS13 during late stage of pregnancy.
The journal of obstetrics and gynaecology researchDiagnosis of Hereditary TTP Caused by Homozygosity for a Rare Complex ADAMTS13 Allele After Salmonella Infection in a 43-Year-Old Asylum Seeker.
Frontiers in medicineAssessing thrombogenesis and treatment response in congenital thrombotic thrombocytopenic purpura.
EJHaemUnfolding the pathophysiology of congenital thrombotic thrombocytopenic purpura in pregnancy: lessons from a cluster of familial cases.
American journal of obstetrics and gynecologyCongenital Thrombotic Thrombocytopenic Purpura With a Novel ADAMTS13 Gene Mutation.
CureusSuccess and limitations of plasma treatment in pregnant women with congenital thrombotic thrombocytopenic purpura.
Journal of thrombosis and haemostasis : JTHFirst reported case of congenital thrombotic thrombocytopenic purpura in Taiwan with novel mutation of ADAMTS13 gene.
International journal of hematologyA Case Report of Congenital Thrombotic Thrombocytopenic Purpura: The Peripheral Blood Smear Lights the Diagnosis.
Journal of pediatric hematology/oncologyClinical Features and Gene Mutation Analysis of Congenital Thrombotic Thrombocytopenic Purpura in Neonates.
Frontiers in pediatricsFrequent recurrence of pregnancy-triggered congenital thrombotic thrombocytopenic purpura: A rare case report.
Clinical hemorheology and microcirculationCongenital thrombotic thrombocytopenic purpura (TTP) with placental abruption despite maternal improvement: a case report.
BMC pregnancy and childbirthAtypical presentation of congenital thrombotic thrombocytopenic purpura with large and small vessel disease: A case report.
Pediatric blood & cancerNeonate with Congenital Thrombotic Thrombocytopenic Purpura: a Case Report of a de novo Compound Heterozygote Mutation in ADAMTS13 Gene and Review of Literature.
Clinical laboratoryTwo novel mutations in ADAMTS13 in a Chinese boy with congenital thrombocytopenic purpura: a case report.
BMC medical geneticsNew mutation found to cause hereditary thrombotic thrombocytopenic purpura in a patient presenting with seizures in adulthood.
Platelets[A 2-day-old neonate with hyperbilirubinemia and thrombocytopenia].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsCongenital thrombotic thrombocytopenic purpura in a large cohort of patients carrying a novel mutation in ADAMTS13 gene.
Thrombosis researchCongenital thrombotic thrombocytopenic purpura presenting in adulthood with recurrent cerebrovascular events.
BMJ case reportsNovel Heterozygous Mutations of Congenital Thrombotic Thrombocytopenic Purpura: A Rare Case Report.
Indian journal of nephrologyPatient Experience with Congenital (Hereditary) Thrombotic Thrombocytopenic Purpura: A Conceptual Framework of Symptoms and Impacts.
The patient[A case of quetiapine-induced congenital thrombotic thrombocytopenic purpura, atypical phenotype diagnosed in adulthood].
LakartidningenThe International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017.
HaematologicaCharacterization and treatment of congenital thrombotic thrombocytopenic purpura.
BloodRisk of diagnostic delay in congenital thrombotic thrombocytopenic purpura.
Journal of thrombosis and haemostasis : JTH[Analysis of 5 children with congenital thrombotic thrombocytopenic purpura].
Zhonghua er ke za zhi = Chinese journal of pediatricsPharmacokinetics of plasma infusion in congenital thrombotic thrombocytopenic purpura.
Journal of thrombosis and haemostasis : JTHUpshaw-Schulman Syndrome With c.2728C>T Mutation in ADAMTS13 Gene.
Journal of pediatric hematology/oncologyChild-onset thrombotic thrombocytopenic purpura caused by p.R498C and p.G259PfsX133 mutations in ADAMTS13.
European journal of haematologyInherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy: a case report.
Journal of medical case reportsSuccessful kidney transplantation in a patient with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).
TransfusionRecombinant ADAMTS-13: first-in-human pharmacokinetics and safety in congenital thrombotic thrombocytopenic purpura.
Blood[Siblings with congenital thrombotic thrombocytopenic purpura].
[Rinsho ketsueki] The Japanese journal of clinical hematologyA novel homozygous frameshift mutation in Exon 7 of the ADAMTS13 gene in a patient with congenital thrombotic thrombocytopenic purpura from India: a case report.
TransfusionA Severe Case of Congenital Thrombotic Thrombocytopenia Purpura Resulting From Compound Heterozygosity Involving a Novel ADAMTS13 Pathogenic Variant.
Journal of pediatric hematology/oncologyInteraction between Multimeric von Willebrand Factor and Complement: A Fresh Look to the Pathophysiology of Microvascular Thrombosis.
Journal of immunology (Baltimore, Md. : 1950)Relapse of congenital thrombotic thrombocytopenic purpura, after spontaneous remission, in a second-trimester primigravida: case report and review of the literature.
Sao Paulo medical journal = Revista paulista de medicinaLong-Term Prevention of Congenital Thrombotic Thrombocytopenic Purpura in ADAMTS13 Knockout Mice by Sleeping Beauty Transposon-Mediated Gene Therapy.
Arteriosclerosis, thrombosis, and vascular biologySevere Hemolysis and Pulmonary Hypertension in a Neonate With Upshaw-Schulman Syndrome.
PediatricsCongenital thrombotic thrombocytopenic purpura.
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekkeDegradation of two novel congenital TTP ADAMTS13 mutants by the cell proteasome prevents ADAMTS13 secretion.
Thrombosis researchDefining the genetics of thrombotic microangiopathies.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for HaemapheresisGenetic variations in complement factors in patients with congenital thrombotic thrombocytopenic purpura with renal insufficiency.
International journal of hematologyCongenital thrombotic thrombocytopenic purpura related to a novel mutation in ADAMTS13 gene and management during pregnancy.
American journal of hematologyHigh prevalence of hereditary thrombotic thrombocytopenic purpura in central Norway: from clinical observation to evidence.
Journal of thrombosis and haemostasis : JTH[Thrombotic thrombocytopenic purpura in a newborn].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieUpshaw-Schulman Syndrome.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPTreatment of Congenital Thrombotic Thrombocytopenic Purpura With Eculizumab.
American journal of kidney diseases : the official journal of the National Kidney FoundationCongenital thrombotic thrombocytopenic purpura: Upshaw-Schulman syndrome: a cause of neonatal death and review of literature.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansADAMTS13 Secretion and Residual Activity among Patients with Congenital Thrombotic Thrombocytopenic Purpura with and without Renal Impairment.
Clinical journal of the American Society of Nephrology : CJASNThe D173G mutation in ADAMTS-13 causes a severe form of congenital thrombotic thrombocytopenic purpura. A clinical, biochemical and in silico study.
Thrombosis and haemostasisAdult-onset congenital thrombotic thrombocytopenic purpura caused by a novel compound heterozygous mutation of the ADAMTS13 gene.
International journal of hematologyCongenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) caused by novel ADAMTS13 mutations.
British journal of haematologyAssociações
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Ainda não temos associações cadastradas para Púrpura trombocitopenia trombótica congênita, por deficiência de ADAMTS-13.
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Ainda não existe comunidade no Raras para Púrpura trombocitopenia trombótica congênita, por deficiência de ADAMTS-13
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Optimizing ADAMTS13 prophylaxis to reduce relapse and organ failure in congenital thrombotic thrombocytopenic purpura.
- Thrombotic thrombocytopenic purpura in pregnancy: Lessons from a case series of three patients.
- Pregnancy-Associated Thrombotic Thrombocytopenic Purpura: Diagnostic Pitfalls, Therapeutic Strategies, and Emerging Paradigms.
- Recombinant ADAMTS13: An Enzyme Replacement Therapy for the Management of Congenital Thrombotic Thrombocytopenic Purpura.
- Genetics of thrombotic thrombocytopenic purpura: systematic review in immune and congenital thrombotic thrombocytopenic purpura.
- Is congenital thrombotic thrombocytopenic purpura a risk factor for ischemic osteonecrosis of the hip joint (Legg-Calvé-Perthes disease)?
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:93583(Orphanet)
- OMIM OMIM:274150(OMIM)
- MONDO:0010122(MONDO)
- GARD:9430(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q18604563(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
