Raras
Buscar doenças, sintomas, genes...
Púrpura trombocitopenia trombótica congênita, por deficiência de ADAMTS-13
ORPHA:93583CID-10 · M31.1CID-11 · 3B64.14OMIM 274150DOENÇA RARA

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.

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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.

Pesquisas ativas
5 ensaios
11 total registrados no ClinicalTrials.gov
Publicações científicas
170 artigos
Último publicado: 2026 Mar

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
123
pacientes catalogados
Início
Adult
+ childhood, infancy, neonatal
🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PE, BA, CE, PB +10CID-10: M31.1
Você se identifica com essa condição?
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🩸
Sangue
4 sintomas
🫘
Rins
3 sintomas
❤️
Coração
1 sintomas
🫁
Pulmão
1 sintomas
🧠
Neurológico
1 sintomas

+ 11 sintomas em outras categorias

Características mais comuns

49%prev.
Icterícia
Frequência: 59/120
21%prev.
Acidente vascular cerebral
Frequência: 25/120
17%prev.
Desconforto respiratório
Ocasional (29-5%)
10%prev.
Ataque isquêmico transitório
Frequência: 12/120
4%prev.
Infarto do miocárdio
Frequência: 5/120
Aumento da concentração circulante de lactato
21sintomas
Frequente (1)
Ocasional (3)
Muito raro (1)
Sem dados (16)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 21 características clínicas mais associadas, ordenadas por frequência.

IcteríciaJaundice
Frequência: 59/12049%
Acidente vascular cerebralStroke
Frequência: 25/12021%
Desconforto respiratórioRespiratory distress
Ocasional (29-5%)17%
Ataque isquêmico transitórioTransient ischemic attack
Frequência: 12/12010%
Infarto do miocárdioMyocardial infarction
Frequência: 5/1204%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico170PubMed
Últimos 10 anos116publicações
Pico202524 papers
Linha do tempo
2026Hoje · 2026🧪 2002Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

ADAMTS13A disintegrin and metalloproteinase with thrombospondin motifs 13Disease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (1)
O-glycosylation of TSR domain-containing proteins
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (1)
congenital thrombotic thrombocytopenic purpura
HGNC:1366UniProt:Q76LX8

Medicamentos aprovados (FDA)

1 medicamento encontrado nos registros da FDA americana.

💊 ADZYNMA (APADAMTASE ALFA)
Ver no DailyMed/FDA

Variantes genéticas (ClinVar)

209 variantes patogênicas registradas no ClinVar.

🧬 ADAMTS13: NM_139027.6(ADAMTS13):c.3548-2A>C ()
🧬 ADAMTS13: NM_139027.6(ADAMTS13):c.3G>A (p.Met1Ile) ()
🧬 ADAMTS13: NM_139027.6(ADAMTS13):c.3400+36dup ()
🧬 ADAMTS13: NM_139027.6(ADAMTS13):c.3442dup (p.Asp1148fs) ()
🧬 ADAMTS13: NM_139027.6(ADAMTS13):c.1A>G (p.Met1Val) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado1
3Fase 32
2Fase 21
·Pré-clínico7
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 11 ensaios
Carregando informações de tratamento...

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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

🟢 Recrutando agora

2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

11 ensaios clínicos encontrados, 5 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
115 papers (10 anos)
#1

Optimizing ADAMTS13 prophylaxis to reduce relapse and organ failure in congenital thrombotic thrombocytopenic purpura.

Blood advances2026 Mar 10

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.

#2

Thrombotic thrombocytopenic purpura in pregnancy: Lessons from a case series of three patients.

The Journal of international medical research2026 Mar

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.

#3

Pregnancy-Associated Thrombotic Thrombocytopenic Purpura: Diagnostic Pitfalls, Therapeutic Strategies, and Emerging Paradigms.

Biomedicines2026 Feb 15

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.

#4

Recombinant ADAMTS13: An Enzyme Replacement Therapy for the Management of Congenital Thrombotic Thrombocytopenic Purpura.

Journal of the advanced practitioner in oncology2026 Jan 09

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.

#5

Genetics of thrombotic thrombocytopenic purpura: systematic review in immune and congenital thrombotic thrombocytopenic purpura.

Journal of thrombosis and haemostasis : JTH2026 Feb 13

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

Ver todas no PubMed

📚 EuropePMC123 artigos no totalmostrando 115

2026

Thrombotic thrombocytopenic purpura in pregnancy: Lessons from a case series of three patients.

The Journal of international medical research
2026

Pregnancy-Associated Thrombotic Thrombocytopenic Purpura: Diagnostic Pitfalls, Therapeutic Strategies, and Emerging Paradigms.

Biomedicines
2026

Recombinant ADAMTS13: An Enzyme Replacement Therapy for the Management of Congenital Thrombotic Thrombocytopenic Purpura.

Journal of the advanced practitioner in oncology
2026

Genetics of thrombotic thrombocytopenic purpura: systematic review in immune and congenital thrombotic thrombocytopenic purpura.

Journal of thrombosis and haemostasis : JTH
2026

Is congenital thrombotic thrombocytopenic purpura a risk factor for ischemic osteonecrosis of the hip joint (Legg-Calvé-Perthes disease)?

Thrombosis journal
2025

Optimizing the management of congenital thrombotic thrombocytopenic purpura.

Research and practice in thrombosis and haemostasis
2025

Genotype-Phenotype Variability in Congenital Thrombotic Thrombocytopenic Purpura (TTP): Two Novel ADAMTS13 Variants.

Cureus
2025

Modern management of congenital thrombotic thrombocytopenic purpura (cTTP).

Hematology. American Society of Hematology. Education Program
2025

"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 : JTH
2025

Reduced half-life of recombinant ADAMTS13 in a patient with cTTP undergoing total hip arthroplasty.

Thrombosis journal
2025

Updated ISTH thrombotic thrombocytopenic purpura guidelines 2025-a bridge to the future for congenital thrombotic thrombocytopenic purpura.

Journal of thrombosis and haemostasis : JTH
2025

Zebrafish model reveals developmental and hematopoietic functions of ADAMTS13.

Biology open
2026

Real-world safety and efficacy of rADAMTS13 prophylaxis in congenital thrombotic thrombocytopenic purpura: experience from Polish patients previously treated with fresh frozen plasma.

Haematologica
2026

Optimizing ADAMTS13 prophylaxis to reduce relapse and organ failure in congenital thrombotic thrombocytopenic purpura.

Blood advances
2025

Long-term follow-up outcomes in congenital thrombotic thrombocytopenic purpura.

Blood
2025

Rare onset of congenital thrombotic thrombocytopenic purpura during pregnancy: A novel ADAMTS13 gene variant.

Transfusion
2025

Severe congenital thrombotic thrombocytopenic purpura in pregnancy complicated by eclampsia.

BMJ case reports
2025

Characterization 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 pathology
2025

Novel ADAMTS13 Mutation in a Patient With Congenital TTP Diagnosed in Pregnancy.

American journal of hematology
2025

Congenital thrombotic thrombocytopenic purpura: a rare cause of severe neonatal jaundice and hypoxic respiratory failure - a case report.

Case reports in perinatal medicine
2025

Preferences of Patients With cTTP and Other Chronic Conditions for At-Home Prophylactic Infusions: A Discrete Choice Experiment.

Journal of patient experience
2025

Quantitative Systems Pharmacology Modeling of Platelet Responses to Recombinant ADAMTS13 in Patients With Congenital Thrombotic Thrombocytopenic Purpura.

CPT: pharmacometrics &amp; systems pharmacology
2025

Use 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 therapeutics
2025

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.

Journal of thrombosis and haemostasis : JTH
2025

Therapeutic switch from plasma to recombinant ADAMTS13 for patients with congenital TTP from Japanese real-world data.

Blood
2025

Prophylactic use of recombinant ADAMTS-13 during pregnancy for congenital thrombotic thrombocytopenic purpura.

Research and practice in thrombosis and haemostasis
2025

Effect of blood groups on acquired and congenital thrombotic thrombocytopenic purpura and clinical correlation: Multi-center Turkish cohort study.

Hematology, transfusion and cell therapy
2025

Congenital thrombotic thrombocytopenic purpura and human leukocyte antigen analysis-an amazing clue.

Hematology, transfusion and cell therapy
2024

A compound heterozygous ADAMTS13 mutation causes congenital thrombotic thrombocytopenic purpura: a case report.

Frontiers in medicine
2025

Plasma Exchange and N-Acetylcysteine Therapy in a Case of Congenital Thrombotic Thrombocytopenic Purpura Presenting With Acute Renal Failure.

Journal of pediatric hematology/oncology
2025

Real-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
2025

[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 interne
2024

Detection of novel duplication variant in ADAMTS13 gene using chromosomal microarray analysis.

BMJ case reports
2024

Recombinant ADAMTS13 in Congenital Thrombotic Thrombocytopenic Purpura.

The New England journal of medicine
2024

A Case of Pregnancy-Induced Hereditary Thrombotic Thrombocytopenic Purpura Complicated by Cerebral Vasospasm.

Clinical laboratory
2024

[Congenital thrombotic thrombocytopenic purpura diagnosed in adulthood after repeated thrombocytopenia since neonatal period].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2024

Open ADAMTS-13 conformation index predicts earlier relapse in immune-mediated thrombotic thrombocytopenic purpura.

Journal of thrombosis and haemostasis : JTH
2023

Novel ADAMTS13 mutations in a patient with congenital thrombotic thrombocytopenic purpura.

Hematology (Amsterdam, Netherlands)
2023

Congenital Thrombotic Thrombocytopenic Purpura: A Rare Cause of Recurrent Thrombocytopenia and Anemia.

Cureus
2023

Psychometric evaluation of a patient-reported outcomes instrument for congenital thrombotic thrombocytopenic purpura.

Journal of patient-reported outcomes
2023

Congenital 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 Haemapheresis
2023

Clinical Manifestations, Current and Future Therapy, and Long-Term Outcomes in Congenital Thrombotic Thrombocytopenic Purpura.

Journal of clinical medicine
2023

First description of atrial fibrillation and congenital thrombotic thrombocytopenic purpura treated by left atrial appendage occlusion.

EJHaem
2023

[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 zazhi
2023

In vitro characterization of a novel Arg102 mutation in the ADAMTS13 metalloprotease domain.

Journal of thrombosis and haemostasis : JTH
2023

Toward gene therapy for congenital thrombotic thrombocytopenic purpura.

Journal of thrombosis and haemostasis : JTH
2022

Hypercoagulability and Inflammatory Markers in a Case of Congenital Thrombotic Thrombocytopenic Purpura Complicated by Fetal Demise.

Journal of clinical medicine
2023

Unusually high ADAMTS13 activity in a patient with congenital thrombotic thrombocytopenic purpura.

British journal of haematology
2022

Hereditary thrombotic thrombocytopenic purpura and COVID-19: Impacts of vaccination and infection in this rare disease.

Research and practice in thrombosis and haemostasis
2022

Caplacizumab for congenital thrombotic thrombocytopenic purpura.

American journal of hematology
2022

Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19.

Viruses
2022

[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 genetics
2022

No aggravation of congenital thrombotic thrombocytopenic purpura by mRNA-based vaccines against COVID-19: a Japanese registry survey.

Annals of hematology
2022

Delayed diagnosis of congenital thrombotic thrombocytopenic purpura in a patient with recurrent strokes.

Journal of thrombosis and thrombolysis
2022

Understanding treatment response in congenital thrombotic thrombocytopenic purpura to aid in pregnancy counseling and management.

American journal of obstetrics and gynecology
2022

Treatment response in congenital thrombotic thrombocytopenic purpura to aid in pregnancy counseling and management: a reply.

American journal of obstetrics and gynecology
2022

First report of COVID-19 vaccine induced flare of compensated congenital thrombotic thrombocytopenic purpura.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2022

Bilateral Ischemic Retinopathy Associated With Upshaw-Schulman Syndrome: A Case Report.

Journal of vitreoretinal diseases
2021

Infection as Trigger for Congenital Thrombotic Thrombocytopenic Purpura in an Adult Patient.

Journal of medical cases
2021

De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura.

Case reports in hematology
2021

[Treatment of thrombotic thrombocytopenic purpura].

Terapevticheskii arkhiv
2021

Current 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
2021

[Recurrent thrombocytopenia with hemolytic anemia in a boy aged 3 years].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2021

A 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 research
2021

Diagnosis of Hereditary TTP Caused by Homozygosity for a Rare Complex ADAMTS13 Allele After Salmonella Infection in a 43-Year-Old Asylum Seeker.

Frontiers in medicine
2021

Assessing thrombogenesis and treatment response in congenital thrombotic thrombocytopenic purpura.

EJHaem
2021

Unfolding the pathophysiology of congenital thrombotic thrombocytopenic purpura in pregnancy: lessons from a cluster of familial cases.

American journal of obstetrics and gynecology
2020

Congenital Thrombotic Thrombocytopenic Purpura With a Novel ADAMTS13 Gene Mutation.

Cureus
2020

Success and limitations of plasma treatment in pregnant women with congenital thrombotic thrombocytopenic purpura.

Journal of thrombosis and haemostasis : JTH
2021

First reported case of congenital thrombotic thrombocytopenic purpura in Taiwan with novel mutation of ADAMTS13 gene.

International journal of hematology
2022

A Case Report of Congenital Thrombotic Thrombocytopenic Purpura: The Peripheral Blood Smear Lights the Diagnosis.

Journal of pediatric hematology/oncology
2020

Clinical Features and Gene Mutation Analysis of Congenital Thrombotic Thrombocytopenic Purpura in Neonates.

Frontiers in pediatrics
2021

Frequent recurrence of pregnancy-triggered congenital thrombotic thrombocytopenic purpura: A rare case report.

Clinical hemorheology and microcirculation
2020

Congenital thrombotic thrombocytopenic purpura (TTP) with placental abruption despite maternal improvement: a case report.

BMC pregnancy and childbirth
2020

Atypical presentation of congenital thrombotic thrombocytopenic purpura with large and small vessel disease: A case report.

Pediatric blood &amp; cancer
2020

Neonate with Congenital Thrombotic Thrombocytopenic Purpura: a Case Report of a de novo Compound Heterozygote Mutation in ADAMTS13 Gene and Review of Literature.

Clinical laboratory
2020

Two novel mutations in ADAMTS13 in a Chinese boy with congenital thrombocytopenic purpura: a case report.

BMC medical genetics
2020

New mutation found to cause hereditary thrombotic thrombocytopenic purpura in a patient presenting with seizures in adulthood.

Platelets
2019

[A 2-day-old neonate with hyperbilirubinemia and thrombocytopenia].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2020

Congenital thrombotic thrombocytopenic purpura in a large cohort of patients carrying a novel mutation in ADAMTS13 gene.

Thrombosis research
2019

Congenital thrombotic thrombocytopenic purpura presenting in adulthood with recurrent cerebrovascular events.

BMJ case reports
2019

Novel Heterozygous Mutations of Congenital Thrombotic Thrombocytopenic Purpura: A Rare Case Report.

Indian journal of nephrology
2019

Patient Experience with Congenital (Hereditary) Thrombotic Thrombocytopenic Purpura: A Conceptual Framework of Symptoms and Impacts.

The patient
2019

[A case of quetiapine-induced congenital thrombotic thrombocytopenic purpura, atypical phenotype diagnosed in adulthood].

Lakartidningen
2019

The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017.

Haematologica
2019

Characterization and treatment of congenital thrombotic thrombocytopenic purpura.

Blood
2019

Risk of diagnostic delay in congenital thrombotic thrombocytopenic purpura.

Journal of thrombosis and haemostasis : JTH
2019

[Analysis of 5 children with congenital thrombotic thrombocytopenic purpura].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2019

Pharmacokinetics of plasma infusion in congenital thrombotic thrombocytopenic purpura.

Journal of thrombosis and haemostasis : JTH
2019

Upshaw-Schulman Syndrome With c.2728C>T Mutation in ADAMTS13 Gene.

Journal of pediatric hematology/oncology
2018

Child-onset thrombotic thrombocytopenic purpura caused by p.R498C and p.G259PfsX133 mutations in ADAMTS13.

European journal of haematology
2018

Inherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy: a case report.

Journal of medical case reports
2017

Successful kidney transplantation in a patient with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).

Transfusion
2017

Recombinant ADAMTS-13: first-in-human pharmacokinetics and safety in congenital thrombotic thrombocytopenic purpura.

Blood
2017

[Siblings with congenital thrombotic thrombocytopenic purpura].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2017

A novel homozygous frameshift mutation in Exon 7 of the ADAMTS13 gene in a patient with congenital thrombotic thrombocytopenic purpura from India: a case report.

Transfusion
2018

A Severe Case of Congenital Thrombotic Thrombocytopenia Purpura Resulting From Compound Heterozygosity Involving a Novel ADAMTS13 Pathogenic Variant.

Journal of pediatric hematology/oncology
2017

Interaction between Multimeric von Willebrand Factor and Complement: A Fresh Look to the Pathophysiology of Microvascular Thrombosis.

Journal of immunology (Baltimore, Md. : 1950)
2017

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 medicina
2017

Long-Term Prevention of Congenital Thrombotic Thrombocytopenic Purpura in ADAMTS13 Knockout Mice by Sleeping Beauty Transposon-Mediated Gene Therapy.

Arteriosclerosis, thrombosis, and vascular biology
2016

Severe Hemolysis and Pulmonary Hypertension in a Neonate With Upshaw-Schulman Syndrome.

Pediatrics
2016

Congenital thrombotic thrombocytopenic purpura.

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke
2016

Degradation of two novel congenital TTP ADAMTS13 mutants by the cell proteasome prevents ADAMTS13 secretion.

Thrombosis research
2016

Defining the genetics of thrombotic microangiopathies.

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis
2016

Genetic variations in complement factors in patients with congenital thrombotic thrombocytopenic purpura with renal insufficiency.

International journal of hematology
2016

Congenital thrombotic thrombocytopenic purpura related to a novel mutation in ADAMTS13 gene and management during pregnancy.

American journal of hematology
2016

High prevalence of hereditary thrombotic thrombocytopenic purpura in central Norway: from clinical observation to evidence.

Journal of thrombosis and haemostasis : JTH
2016

[Thrombotic thrombocytopenic purpura in a newborn].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2015

Upshaw-Schulman Syndrome.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2015

Treatment of Congenital Thrombotic Thrombocytopenic Purpura With Eculizumab.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2016

Congenital thrombotic thrombocytopenic purpura: Upshaw-Schulman syndrome: a cause of neonatal death and review of literature.

The journal of maternal-fetal &amp; 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 Obstetricians
2015

ADAMTS13 Secretion and Residual Activity among Patients with Congenital Thrombotic Thrombocytopenic Purpura with and without Renal Impairment.

Clinical journal of the American Society of Nephrology : CJASN
2016

The D173G mutation in ADAMTS-13 causes a severe form of congenital thrombotic thrombocytopenic purpura. A clinical, biochemical and in silico study.

Thrombosis and haemostasis
2015

Adult-onset congenital thrombotic thrombocytopenic purpura caused by a novel compound heterozygous mutation of the ADAMTS13 gene.

International journal of hematology
2016

Congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) caused by novel ADAMTS13 mutations.

British journal of haematology
Ver todos os 123 no EuropePMC

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Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

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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.

  1. Optimizing ADAMTS13 prophylaxis to reduce relapse and organ failure in congenital thrombotic thrombocytopenic purpura.
    Blood advances· 2026· PMID 40875883mais citado
  2. Thrombotic thrombocytopenic purpura in pregnancy: Lessons from a case series of three patients.
    The Journal of international medical research· 2026· PMID 41852235mais citado
  3. Pregnancy-Associated Thrombotic Thrombocytopenic Purpura: Diagnostic Pitfalls, Therapeutic Strategies, and Emerging Paradigms.
    Biomedicines· 2026· PMID 41751340mais citado
  4. Recombinant ADAMTS13: An Enzyme Replacement Therapy for the Management of Congenital Thrombotic Thrombocytopenic Purpura.
    Journal of the advanced practitioner in oncology· 2026· PMID 41695966mais citado
  5. Genetics of thrombotic thrombocytopenic purpura: systematic review in immune and congenital thrombotic thrombocytopenic purpura.
    Journal of thrombosis and haemostasis : JTH· 2026· PMID 41692098mais citado
  6. Is congenital thrombotic thrombocytopenic purpura a risk factor for ischemic osteonecrosis of the hip joint (Legg-Calvé-Perthes disease)?
    Thromb J· 2026· PMID 41680850recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:93583(Orphanet)
  2. OMIM OMIM:274150(OMIM)
  3. MONDO:0010122(MONDO)
  4. GARD:9430(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. 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

Púrpura trombocitopenia trombótica congênita, por deficiência de ADAMTS-13
Compêndio · Raras BR

Púrpura trombocitopenia trombótica congênita, por deficiência de ADAMTS-13

ORPHA:93583 · MONDO:0010122
Prevalência
<1 / 1 000 000
Casos
123 casos conhecidos
Herança
Autosomal recessive
CID-10
M31.1 · Microangiopatia trombótica
CID-11
Ensaios
5 ativos
Início
Adult, Childhood, Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1268935
EuropePMC
Wikidata
Papers 10a
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