Introdução
O que você precisa saber de cara
Doença hemorrágica rara autossômica dominante, com início na idade adulta, caracterizada por hipercoagulabilidade, levando a episódios de embolia pulmonar e trombose venosa profunda. Causada por mutações no gene THBD.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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
+ 3 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 5 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 dominant.
Endothelial cell receptor that plays a critical role in regulating several physiological processes including hemostasis, coagulation, fibrinolysis, inflammation, and angiogenesis (PubMed:10761923). Acts as a cofactor for thrombin activation of protein C/PROC on the surface of vascular endothelial cells leading to initiation of the activated protein C anticoagulant pathway (PubMed:29323190, PubMed:33836597, PubMed:9395524). Also accelerates the activation of the plasma carboxypeptidase B2/CPB2, w
Membrane
Thrombophilia due to thrombomodulin defect
A hemostatic disorder characterized by a tendency to thrombosis.
Variantes genéticas (ClinVar)
56 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 205 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 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 — Doença hemorrágica relacionada com a trombomodulina
Selecione um estado ou use sua localização para ver resultados.
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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Non-cirrhotic portal-splenic-mesenteric vein thrombosis unmasking JAK2 V617F-positive polycythemia vera.
Este caso descreve um homem com tromboses extensas e simultâneas nas veias do abdômen (portal, esplênica e mesentérica superior), que não eram causadas por cirrose. Essa condição rara e grave "desmascarou" uma policitemia vera (PV) subjacente, uma doença sanguínea que estava previamente oculta ou "mascarada" pela deficiência de ferro. Para pacientes, o aparecimento de dor abdominal intensa e tromboses não explicadas pode ser um sinal de uma condição hematológica séria como a PV; para médicos, este caso ressalta a importância de investigar a PV com testes específicos (JAK2 V617F e eritropoietina) em pacientes com trombose venosa esplâncnica sem cirrose, permitindo um tratamento precoce com anticoagulantes e manejo da PV, que mostrou bons resultados.
🇧🇷 traduzidoDevelopment and Validation of a Novel Thrombosis Prediction Model for Adult Immune Thrombocytopenia (ITP-THROMBO).
Este artigo descreve o desenvolvimento de um novo modelo preditivo, o ITP-THROMBO, crucial para identificar pacientes adultos com trombocitopenia imune (PTI) que correm maior risco de desenvolver trombose, apesar da condição ser caracterizada por sangramento. O modelo utiliza fatores como fibrilação atrial, histórico de eventos trombóticos/cerebrovasculares, doença vascular periférica, pneumonia recente e níveis de D-dímero, permitindo uma avaliação rápida e robusta do risco. Para médicos e pacientes, esta ferramenta é fundamental para facilitar a tomada de decisões personalizadas sobre o tratamento, ajudando a equilibrar a prevenção de hemorragias e tromboses em pacientes com PTI. *(Nota: O resumo foi focado no artigo fornecido, "ITP-THROMBO", pois o conteúdo não mencionava "Thrombomodulin-related bleeding disorder".)*
🇧🇷 traduzidoGastric outlet obstruction secondary to Peutz-Jeghers syndrome successfully managed by polypectomy.
O artigo fornecido descreve um caso de obstrução da saída gástrica em um bebê de 1 ano com Síndrome de Peutz-Jeghers (PJS), causada por um pólipo, e não aborda especificamente distúrbios hemorrágicos relacionados à trombomodulina. Para pacientes e médicos, o estudo destaca que a PJS pode se manifestar precocemente, com sintomas como vômitos e sangramento, sendo o ultrassom e a série gastrointestinal ferramentas úteis para o diagnóstico da obstrução. Além disso, a remoção do pólipo por via endoscópica demonstrou ser uma alternativa segura e eficaz à cirurgia em casos de pólipos que causam obstrução em PJS.
🇧🇷 traduzidoCase Report: Ataxia telangiectasia with severe hemorrhagic cystitis.
Este relato descreve um caso de Ataxia Telangiectasia (AT) em um menino de 12 anos que desenvolveu **cistite hemorrágica grave e recorrente** após quimioterapia para leucemia, causada por novas variantes genéticas no gene ATM. A condição foi associada a **lesões telangiectáticas na bexiga**, confirmadas por cistoscopia, e o sangramento foi controlado por eletrocoagulação. Médicos e pacientes com AT devem estar cientes do **risco de cistite hemorrágica tardia e potencialmente fatal**, especialmente após exposição a quimioterápicos como a ciclofosfamida, sendo a cistoscopia essencial para diagnóstico e manejo.
🇧🇷 traduzidoDeleterious NKAP Mutations Are Associated with Musculoskeletal Abnormalities in Hemizygous Males and Skewed X Chromosome Inactivation in Heterozygous Females.
Este estudo mostra que mutações no gene NKAP causam anomalias musculoesqueléticas, como hipotonia, em homens. Em mulheres, essas mutações levam a uma inativação do cromossomo X (XCI) significativamente desequilibrada, o que pode fazer com que doenças ligadas ao X, como a hemofilia A, se manifestem em portadoras, pois as células com o cromossomo X contendo a mutação NKAP ativa são desfavorecidas. Isso é crucial para o diagnóstico e aconselhamento genético, tanto para problemas musculoesqueléticos em homens quanto para entender a manifestação de doenças ligadas ao X em mulheres.
🇧🇷 traduzidoPublicações recentes
Circulating Platelet-Neutrophil Aggregates as Novel Biomarker for Coagulopathy Diagnosis and Disseminated Intravascular Coagulation Prediction in Sepsis.
Case Report: Differential diagnosis and clinical management of isolated prolonged activated partial thromboplastin time.
Hypocoagulability among people living with HIV at Hoima Regional Referral Hospital, Western Uganda: a cross-sectional study.
Primary Sjögren's syndrome-associated immune thrombocytopenia: from pathogenesis to treatment.
Thrombotic thrombocytopenic purpura in pregnancy: Lessons from a case series of three patients.
📚 EuropePMCmostrando 199
Non-cirrhotic portal-splenic-mesenteric vein thrombosis unmasking JAK2 V617F-positive polycythemia vera.
Clinical journal of gastroenterologyCase Report: Differential diagnosis and clinical management of isolated prolonged activated partial thromboplastin time.
Frontiers in immunologyDevelopment and Validation of a Novel Thrombosis Prediction Model for Adult Immune Thrombocytopenia (ITP-THROMBO).
Journal of blood medicineUltrasound signs of adenomyosis in pregnancy and counselling related to infertility and obstetric outcomes.
Minerva obstetrics and gynecologyA Longitudinal Imaging and Clinical Data Workflow Identifies Potential Time-Dependent Risk Factors for Post-Subarachnoid Hemorrhage Epilepsy.
Neurocritical carePhlegmasia Cerulea Dolens Secondary to Iliac Vein Compression From Posttransplant Hematoma Despite Anticoagulation.
Ochsner journalPolycystic ovary syndrome and risk of endometrial hyperplasia and endometrial cancer in women with abnormal uterine bleeding: A systematic review and meta-analysis.
Biomolecules & biomedicine[Prediction of High-Risk Factors for Survival Outcomes in Children Undergoing Massive Intraoperative Blood Transfusion].
Zhongguo shi yan xue ye xue za zhiEfficacy and safety of TPO-RA combined with sirolimus in the treatment of relapsed immune thrombocytopenia.
Hematology (Amsterdam, Netherlands)Gastric outlet obstruction secondary to Peutz-Jeghers syndrome successfully managed by polypectomy.
Clinical journal of gastroenterologyEndotheliopathy within the thromboinflammatory network of sepsis-induced coagulopathy.
Inflammation research : official journal of the European Histamine Research Society ... [et al.][Damage control resuscitation in severe pediatric trauma. Part I: Limited crystalloids administration, permissive hypotension, balanced transfusion in hemostatic resuscitation].
Andes pediatrica : revista Chilena de pediatriaPreceding Infections and Coagulation Biomarkers in Early-Onset Cryptogenic Ischemic Stroke.
StrokeCase Report: Ataxia telangiectasia with severe hemorrhagic cystitis.
Frontiers in pediatricsCase Report: Endothelial-targeted bridging therapy for a TTP-like phenotype in fulminant iMCD-TAFRO.
Frontiers in immunologyLow-dose mifepristone for the management of refractory heavy menstrual bleeding in women with bleeding disorders: a retrospective study.
BMC women's healthGlycoside Compounds from Blood-Nourishing Chinese Medicinal Herbs: Structural Characteristics, Pharmacological Mechanisms, and Therapeutic Potential for Thrombocytopenia.
Molecules (Basel, Switzerland)Deleterious NKAP Mutations Are Associated with Musculoskeletal Abnormalities in Hemizygous Males and Skewed X Chromosome Inactivation in Heterozygous Females.
International journal of molecular sciencesGenotype-Specific Postural Control Deficits in Hemophilia A: Insights from Center of Pressure Analysis Beyond Radiographic Arthropathy.
International journal of molecular sciencesPrevalence and influence of cardiovascular kidney metabolic syndrome on outcomes after transcatheter aortic valve implantation.
European journal of heart failureAortoesophageal fistula from an ingested large hand needle in a nonverbal adult with autism.
Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma & emergency surgery : TJTESNovel compound heterozygous mutation of the KNG1 gene associated with severe HMWK deficiency in a Chinese pedigree.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisNeonatal Glanzmann's Thrombasthenia Presenting as Refractory Post-circumcision Hemorrhage in a Region of High Consanguinity: A Case Report.
Cureus[Acquired hemophilia A secondary to marginal zone lymphoma].
Revue medicale de LiegePhase 1 pilot study for hemophilia-A: AAV8 vector with prophylactic tacrolimus-glucocorticoid achieves therapeutic FVIII activity.
Signal transduction and targeted therapyTransfusing HPA-mismatched platelets to mimic fetomaternal hemorrhage elicits fetal/neonatal alloimmune thrombocytopenia.
BloodRegional variations and trends in hemophilia prevalence: A global analysis with future projection.
PLOS global public health[Molecular pathogenesis of a novel p.Cys467Tyr missense variant underlying Hereditary factor Ⅻ deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsUntargeted Proteomics Profiling of Liver and Plasma in Fed and Fasted Liver-Specific Glycogen Storage Disease Type Ia (GSD Ia) Mice: Toward Potential Protein Biomarkers.
Journal of inherited metabolic diseaseNational Bleeding Disorder Foundation Clinical Practice Recommendations for Laboratory Screening of Iron Deficiency With and Without Anemia in the Inherited Bleeding Disorders Population.
Haemophilia : the official journal of the World Federation of HemophiliaHeyde syndrome secondary to hypertrophic obstructive cardiomyopathy: a case report.
The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of CardiologySubclinical Cardiac Diseases and the Role of Extracellular Vesicles in Patients with Hemophilia A Treated on-Demand.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisA Novel Homozygous ITGA2B Variant Associated With Recurrent Epistaxis in a Four-Year-Old Girl: A Case Report.
CureusUpper Gastrointestinal Bleeding Due to Ruptured Gastric Varices: A Diagnostic Challenge.
CureusPlatelet dense granule defect: experience in the French population.
Research and practice in thrombosis and haemostasisAdaptive immune and platelet activation during the maintenance phase of therapy in adults with B cell acute lymphoblastic leukemia.
PlateletsEnhanced Peripartum Hemostatic Management Does Not Decrease Postpartum Hemorrhage Incidence in Hemophilia Carriers: the Pregnancy and Inherited Bleeding Disorders study (PRIDES).
Journal of thrombosis and haemostasis : JTHExcessive intraoperative hemorrhage during orthognathic surgery in a patient with neurofibromatosis type 1: a case report and literature review.
Oral and maxillofacial surgeryCase Report: Co-Occurrence of Lung Adenocarcinoma and Congenital Dysfibrinogenemia-Diagnostic and Perioperative Management Challenges.
Cancer reports (Hoboken, N.J.)Delayed acute respiratory distress syndrome and sepsis-associated disseminated intravascular coagulation following aluminium phosphide poisoning.
BMJ case reportsInherited Bleeding Disorders in Pregnancy: Obstetric Management and Outcomes From a Tertiary Care Centre.
Haemophilia : the official journal of the World Federation of HemophiliaKinesiophobia in Parents of Children with Haemophilia.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPInfluence of Psychiatric Comorbidities on Outcomes in Cirrhosis: A Propensity-Matched Cohort Analysis.
Gastroenterologia y hepatologiaAn Interesting Case of Hereditary Hemorrhagic Telangiectasia in a Patient with Recurrent Epistaxis.
Annals of African medicineFactors Influencing Sport-Induced Bleeding in Patients With Haemophilia Without Inhibitors: A Single Centre Retrospective Study of People Born in the 2000s.
Haemophilia : the official journal of the World Federation of HemophiliaTimely Diagnosis and Management in Adult Patients With Ehlers-Danlos Syndrome Experiencing Gynaecological Bleeding.
Haemophilia : the official journal of the World Federation of HemophiliaComparative Efficacy and Safety of Non-Clotting Factor Prophylaxis Versus. on-Demand Therapy in Hemophilia: A Meta-Analysis of Randomized Controlled Trials.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisCurrent Status of Clinical Gene Therapy for Hemophilia and Globin Disorders.
Journal of blood medicineCOVID-19-Associated Acquired Hemophilia A With an Exceptionally High Inhibitor Titer: A Case of Remission and Overwhelming Sepsis.
CureusMulticenter survey on viscoelastic assays access and use in trauma in Swiss emergency departments.
European journal of trauma and emergency surgery : official publication of the European Trauma SocietyDuplication of the prothrombin gene is associated with a significant increase in thrombin generation.
Research and practice in thrombosis and haemostasisPropofol and/or etomidate-induced immune thrombocytopenia: A case report.
Hematology (Amsterdam, Netherlands)Machine learning estimation of FVIII pharmacokinetic parameters in Chinese children with severe Hemophilia A.
NPJ systems biology and applicationsAdjunctive Molecular Hydrogen Therapy Modulates T Cell Markers and Reduces Anti-Ro Antibody in Refractory Oral Ulcers of Behçet's Disease and Sjögren's Syndrome: A Case Report.
In vivo (Athens, Greece)Neonatal Sepsis-Induced Coagulopathy: An Evolving Frontier at the Crossroads of Inflammation and Hemostasis.
Seminars in thrombosis and hemostasisSafety of recombinant thrombomodulin during percutaneous transhepatic gallbladder drainage in patients with biliary tract infections and disseminated intravascular coagulation: A retrospective cohort study.
MedicineA Novel Autoimmune Presentation of Wiskott-Aldrich Syndrome: Type 1 Diabetes.
Immunity, inflammation and diseasePreoperative Hemostatic Management for Refractory Abnormal Uterine Bleeding in Patients With von Willebrand Disease: A Case Report.
Case reports in obstetrics and gynecologyGlucosylsphingosine (Lyso-Gb1): An Update on Its Use as a Biomarker in Gaucher Disease.
International journal of molecular sciencesVitamin K Prophylaxis in Newborns: A Narrative Review of the Molecular Basis, Clinical Evidence, and Comparative Effectiveness of Intramuscular Versus Oral Administration and Parental Hesitation.
International journal of molecular sciencesThe Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.
GenesDiagnostic Potential of Metabolomic and Proteomic Biomarkers in Cardiology-A Narrative Review.
BiomedicinesGroup A β-hemolytic streptococcus causing purpura fulminans: two case reports.
Frontiers in immunologyUnderstanding Treatment Care and Delays in Acquired Hemophilia A: A Population-Based Study From Nova Scotia, Canada.
EJHaemAge-driven shifts in T and NK cell responses amplify inflammation and coagulopathy during viral infection in mice and humans.
Frontiers in immunologyUnmasking a Rare Genetic Puzzle: Hereditary Hemorrhagic Telangiectasia in a Black Kenyan Woman: A Case Report.
Case reports in gastrointestinal medicineBleeding assessment tools and quality of life in bleeding disorder of unknown cause.
Research and practice in thrombosis and haemostasisFactor-VIII mimetic bispecific antibodies for the treatment of hemophilia A: an update.
Expert review of clinical pharmacologyEfficacy and Safety of Rituximab as Frontline Therapy for Eradication of Inhibitors in Congenital Haemophilia A.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionClinicopathological Spectrum of Functional Platelet Disorders Diagnosed Using Light Transmission Aggregometry.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionMulticentre development and validation of a risk model integrating immunotherapy and coagulation biomarkers for thrombosis in autoimmune neurological disorders.
International immunopharmacologyImage-guided puncture drainage as a first-line management for postoperative abscess following head and neck reconstruction: A case series.
Auris, nasus, larynxExercise Programmes for People With Haemophilia: A Scoping Review.
Haemophilia : the official journal of the World Federation of HemophiliaIntravascular Rewarming in Major Burns: A Rare but Serious Catheter-Related Complication.
European burn journalExploring gene editing as a potential therapeutic strategy for hemophilia.
Frontiers in bioengineering and biotechnologyAn ultra-expansible chitosan-silk fibroin miniaturized sponge loaded with tranexamic acid modified gelatin for coagulation abnormalities.
Carbohydrate polymersPeripartum management of caesarean delivery in type 2 von Willebrand disease.
BMJ case reportsGTH 2026: Connected Science - Advanced Solutions.
HamostaseologieA Multifactorial Case of Acquired Hemophilia A.
CureusUnveiling the Invisible: A Case of Canine Diffuse Microscopic Pancreatic Adenocarcinoma With Normal Imaging and Gross Appearance of the Pancreas Complicated by Sterile Peritonitis and Disseminated Intravascular Coagulation.
Veterinary medicine and scienceHereditary Antithrombin Deficiency in Pediatric Patients: Pathophysiology, Clinical Features, Diagnosis, and Antithrombin Replacement Therapy.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisA Potential Case of Tetanus-Diphtheria Vaccine-Induced Immune Thrombocytopenia.
CureusExpanding the Clinical Spectrum of VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) Syndrome: The First Report of Histologically Confirmed Neutrophilic Colitis With Rare Muscular and Pancreatic Involvement.
CureusThrombin Generation Assays: Possibilities and Limitations.
HamostaseologieVon Willebrand Factor at the Crossroads of Hemostasis and Inflammation.
HamostaseologieSevere hemophilia A with inhibitors and pancreatic cancer - when emicizumab is not enough.
Blood transfusion = Trasfusione del sangueRare inherited autosomal bleeding disorders in women: sex-related bleeding, pregnancy and delivery. A narrative review.
Blood transfusion = Trasfusione del sangueThe emerging role of complement inhibitory approaches in the treatment of acute sickle cell disease complications.
Expert review of hematologyOne Health horsepower in hemostasis: SEL1Lecting stable platelet adhesion.
The Journal of clinical investigationER-associated degradation pathway protein SEL1L plays an evolutionarily conserved role in platelet adhesion.
The Journal of clinical investigationRecombinant von Willebrand factor for von Willebrand disease: mechanism of action and clinical application.
Therapeutic advances in hematologyRefractory Intrahepatic Cholestasis of Pregnancy in Twin Gestation Managed With Ursodeoxycholic Acid and Adjunctive Cholestyramine: A Case Report.
CureusNeuraxial Anesthesia in a Parturient With Newly Diagnosed Klippel-Trenaunay Syndrome: A Case Report.
CureusUterine rupture in the second trimester with fetal demise.
BMJ case reportsRefractory Primary Immune Thrombocytopenia With Bleeding and Thrombosis: A Case Report.
The American journal of case reportsMalignant renovascular hypertension consequent to IgA vasculitis in a young male patient: a case report.
Journal of medical case reportsChallenges in Balancing Hemostasis and Thrombosis in Therapy Tailoring for Hemophilia: A Narrative Review.
International journal of molecular sciencesEffect of a truncated mutant factor V on hemostatic function and embryonic development in mice.
Scientific reportsImmunopathology of immune thrombocytopenia.
Journal of thrombosis and haemostasis : JTHClinical Spectrum, Subtype Distribution, and Treatment Outcomes in von Willebrand Disease: A Prospective Study from a Hemophilia Treatment Center in Pakistan.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisThe Genetic Link Between Primary Immune Thrombocytopenia and Depression/Anxiety Disorders: A Two-Sample Mendelian Randomization Study.
Journal of clinical laboratory analysisSuccessful Vaginal Delivery in a Pregnant Woman With Bernard-Soulier Syndrome: A Case Report.
Clinical case reportsOne-Year Outcome of Japanese Patients With Atrial Fibrillation: Insights From APHRS-AF Registry.
Journal of arrhythmiaRelationships between bleeding assessment tools (ISTH-BAT, Self-BAT) and quality of life in patients with bleeding symptoms.
Research and practice in thrombosis and haemostasisRisk-stratified perioperative tranexamic acid utilization for total hip and knee arthroplasty: Analysis of trends of the past decade.
Bulletin of the Hospital for Joint Disease (2013)Severe venom-induced consumption coagulopathy, snakebite-associated thrombotic microangiopathy, and local necrosis following Western bush viper (Atheris chlorechis) envenoming in France.
Toxicon : official journal of the International Society on ToxinologyTorque Teno Virus Levels During Viral Respiratory Infections: The Interplay With Immune Dysregulation and Coagulopathy Biomarkers.
Journal of medical virologyManagement of essential thrombocythaemia-associated toe ulcer with a novel topical macrophage-modulating cream containing extract of Plectranthus amboinicus.
Journal of wound careBleeding from umbilicus in a neonate: exploring aetiologies of a common presentation.
BMJ case reportsThe MAPTO survey: worldwide approaches on unmasking factor VIII inhibitors in children with emicizumab treatment: communication from the ISTH SSC Subcommittee on Factor VIII, Factor IX and Rare Coagulation Disorders.
Journal of thrombosis and haemostasis : JTHIntestinal barrier compromise, viral persistence, and immune dysregulation converge on neurological sequelae in Long COVID.
Frontiers in aging neuroscienceEarly catheter-directed portal vein thrombolysis in myeloproliferative disorder-related diffuse mesenteric venous ischemia: A case report.
World journal of gastroenterologyCatastrophic antiphospholipid syndrome with eosinophilia mimicking hypereosinophilic syndromes with disseminated intravascular coagulation: a case report.
Journal of medical case reportsAntiphosphatidylserine/prothrombin antibodies define a high-risk antiphospholipid syndrome profile associated with organ damage.
Clinical chemistry and laboratory medicineA Case Report on Emergency Medicine: Suspected Acquired Hemophilia A in an Older Adult Male.
CureusTranslational insights from nonclinical studies of AAV gene therapies for hemophilia: mechanisms underpinning variability and durability of gene expression.
Therapeutic advances in hematology[Immune-mediated thrombotic thrombocytopenic purpura successfully diagnosed and treated through repeated ADAMTS13 inhibitor testing].
[Rinsho ketsueki] The Japanese journal of clinical hematology[Plasma-derived human protein C replacement concentrate therapy in a patient with severe congenital protein C deficiency presenting with purpura fulminans and disseminated intravascular coagulation].
[Rinsho ketsueki] The Japanese journal of clinical hematologyExplainable machine learning model for predicting traumatic brain injury-induced coagulopathy in elderly patients: A multicenter cohort study.
Neurosurgical reviewHematologic malignancies in pediatric patients with RUNX1-Familial Platelet Disorder with Associated Myeloid Malignancy.
Blood advancesIsolated Hepatic Hemangiomatosis Leading to Fatal Consumptive Coagulopathy in an Elderly Patient: A Case Report.
The American journal of case reportsInvestigation of the Suitability of the ROTEM Assay to Measure Coagulation Potential in Blood From Patients on Concizumab Prophylaxis.
Haemophilia : the official journal of the World Federation of HemophiliaAnti-beta2-glycoprotein I IgG antibodies are associated with early-onset cryptogenic ischemic stroke.
European stroke journalHemophilia Severity and Its Association With Mental Health and Health-Related Quality of Life-Results From a Cross-Sectional Multicenter Study.
Haemophilia : the official journal of the World Federation of HemophiliaComplications of Chiropractic Manipulation in a Patient With Von Willebrand Disease: A Clinical Case Report and Literature Review.
CureusKyphoscoliotic Ehlers-Danlos syndrome associated with superior mesenteric artery aneurysm and abdominal aortic rupture: a case report.
Frontiers in pediatricsComplex Triple Deformity of the Knee Managed with Knee Arthrodesis in a Severe Hemophilia A Patient: A Case Report.
JBJS case connector[Management of thrombotic microangiopathy].
Revue medicale suisseDe Novo MYH9-Related Macrothrombocytopenia in a Toddler: Insights From Platelet Mass Index.
British journal of hospital medicine (London, England : 2005)Aortic graft invasion into duodenum as an atypical pathergy phenomenon in vascular Behçet's disease.
Modern rheumatology case reportsEndothelial thrombomodulin-Its role in trauma-induced coagulopathy.
TransfusionDevelopment and internal validation of an interpretable machine learning model to predict coagulopathy following extracorporeal membrane oxygenation: a retrospective multicenter study.
Scandinavian journal of trauma, resuscitation and emergency medicineFocused ultrasound therapy for neurological disease.
Journal of medical ultrasonics (2001)Quantitative Evaluation of Coagulability in Obstetric DIC Using TEG6s for New Japanese Diagnostic Criteria of Obstetrical Disseminated Intravascular Coagulation.
The journal of obstetrics and gynaecology researchMolecular Mechanisms of Factor IX Signal Peptide and Propeptide Mutations Underlying Hemophilia B.
Thrombosis and haemostasisPrevalence and clinical relevance of sarcopenia in Chinese patients with porto-sinusoidal vascular disorder.
Frontiers in medicineEnzyme-Responsive Hemostatic Elastin-like Polypeptides for Fibrin Stabilization and Coagulation Restoration in Thrombocytopenia.
Journal of the American Chemical SocietyCoagulation Abnormalities in Liver Cirrhosis: Diagnostic and Therapeutic Approaches.
Medicina (Kaunas, Lithuania)Construction of a nomogram prediction model for prolonged ICU length of stay in patients with sepsis-induced coagulopathy.
European journal of medical researchGeriatric trauma coagulation profiles: Impact of sex on clot formation.
The journal of trauma and acute care surgerySuboptimal screening and correction of maternal iron deficiency anaemia in the general population and in inherited bleeding disorders: A population-based cohort study.
British journal of haematologyThe Effect of von Willebrand Disease on Platelet Adhesion Dynamics: Correlating a Multiscale Platelet Model to In Vitro Results.
IEEE transactions on bio-medical engineeringFactor XIII Deficiency: A Review of Biology, Testing, and Treatment.
Clinical hematology international[Guideline for perioperative coagulation management in adult liver transplant recipients (2026 edition)].
Zhonghua wai ke za zhi [Chinese journal of surgery]Fibrinogen replacement to prevent intracranial hemorrhage in ischemic stroke patients after thrombolysis - a prospective randomized open blinded endpoint trial (FibER): rationale and methods.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke AssociationCoagulation risk in sepsis patients with elevated lactate-to-albumin ratio: a retrospective cohort study.
BMC infectious diseasesDiagnostic reassessment in myeloproliferative neoplasms: the value of functional iron parameters and JAK2 allelic burden.
Annals of hematologyPerioperative factor XIII and viscoelastic measurements of open compared to minimal invasive major upper gastrointestinal surgery- A prospective observational study.
Thrombosis researchThe impact of coagulopathy on prognosis in critically ill patients with sepsis: A nationwide cohort study.
Journal of critical care[Microangiopathies thrombotiques].
La Revue du praticienPerioperative anesthesia management of high-molecular-weight kininogen deficiency: a case report and literature review.
Frontiers in medicineTransplanted gene-modified placental cells boost FVIII activity in pediatric sheep without eliciting immunity, toxicity, or adverse events.
Frontiers in immunologyExperimental infection of horses with African horse sickness virus results in overt disseminated intravascular coagulation.
Equine veterinary journalHMB-002: A Monovalent Antibody that Elevates Circulating VWF and FVIII Levels for Treatment of Von Willebrand Disease.
Blood advancesImmune thrombocytopenia in patients with connective tissue disease.
Clinical rheumatologyClinical characteristics and whole exome sequencing in JAK2V617F- and CALR-unmutated essential thrombocythemia.
Hematology (Amsterdam, Netherlands)Bernard-Soulier Syndrome: Identification of a Novel GP1BB Variant in a Mauritanian Patient.
Molecular genetics & genomic medicineEffects of the space environment and re-adaptation to Earth's gravity on astronauts' plasma proteome.
Life sciences in space researchRedefining hemophilia management: treatment goals, nonfactor replacement therapies, and the role of fitusiran.
The American journal of managed careSARS-CoV-2 spike protein expression drives post-acute coagulopathy.
Journal of virologyCase report: Epidermolysis bullosa acquisita following dipeptidyl peptidase-4 inhibitor therapy and complicated by immune thrombocytopenic purpura.
Frontiers in immunologyPlatelet function abnormalities in acquired hemophilia A.
Research and practice in thrombosis and haemostasisImmune repertoire profiling in immune thrombocytopenia: A path towards biomarkers, for The British Journal of Haematology.
British journal of haematologyLong-term outcomes of blue light laser therapy for epistaxis in patients with hereditary hemorrhagic telangiectasia within a multimodal treatment concept.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryUpdated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.
Scientific reportsMass Spectrometry-Based Proteomics to Understand Immune Thrombocytopenic Purpura: A Review.
Rapid communications in mass spectrometry : RCMPlatelet count, fibrinogen and ROTEM® parameters predict deep vein thrombosis in elderly patients with femoral fracture.
Journal of anesthesia, analgesia and critical careElevated IGF1R and abnormal methylated IGF1R in immune thrombocytopenia.
Annals of hematologyCoagulation dysfunction in children with secondary hemophagocytic lymphohistiocytosis: a comprehensive analysis.
Annals of medicineBone Health in Adults With Severe Haemophilia Receiving Different Prophylactic Treatments.
Haemophilia : the official journal of the World Federation of HemophiliaEvaluation of the Burden of Bone Fractures in People Living With Haemophilia: A Registry-Based Matched Cohort Study.
Haemophilia : the official journal of the World Federation of HemophiliaMetabolic Workup for Bone Stress Injury: A Practical Approach for Evaluating Bone Health in Athletes.
Sports healthEstablishing the clinical utility of integrated quasistatic acoustic tweezing thromboelastometry for blood coagulation analysis.
Journal of thrombosis and haemostasis : JTH[A Case Study of Severe Myelosuppression Induced by Adjuvant Chemotherapy in a Breast Cancer Patient with Concurrent Immune Thrombocytopenia(ITP)].
Gan to kagaku ryoho. Cancer & chemotherapyComparative analysis of whole blood clot viscoelastic properties via thromboelastography and plasma fibrin clot characteristics.
Thrombosis researchA Case Report of Coagulation Factor XII Deficiency.
Clinical laboratoryComparative safety of drug therapies used in hemophilia A and B in Canada: a multi-center, retrospective study.
Research and practice in thrombosis and haemostasisFrom Hip Effusion to Hemophilia: Unveiling the Cause of Pain in 6-Month-Old Infant. A Case Report.
Journal of orthopaedic case reportsCD34-positive circulating cells quantification during follow-up in myeloproliferative neoplasms.
Annals of hematologySpatiotemporal multi-omics profiling of secondary brain injury after intracerebral hemorrhage in an optimized autologous blood-induced mouse model with human tissue validation.
Experimental neurologyExploring the therapeutic potential of Anoectochilus roxburghii in glucose and lipid metabolism disorder: From phenotypic effects to molecular mechanisms and network pharmacology.
Journal of pharmaceutical and biomedical analysisThe interleukin-1 receptor antagonist gene VNTR polymorphism confers a genetic contribution to the risk of immune thrombocytopenia purpura: A systematic review and meta-analysis.
CytokineImprovements in pharmacokinetics, bleeding control, and cost analysis after PK-guided transition to extended-half-life factor IX in hemophilia B: A multicentric study.
Thrombosis researchImpact of antiplatelet therapy on the hemostatic efficacy of platelet-targeted FVIII gene therapy in hemophilia A mice.
Blood advancesPrognostic Impact of Alactic Base Excess in Critically Ill Patients with Sepsis-Associated Disseminated Intravascular Coagulation: A Retrospective Observational Study.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisDeep Cerebral Vein Thrombosis Triggered by Contraceptive Use in a Woman with Non-Overt Essential Thrombocythemia.
Journal of Nippon Medical School = Nippon Ika Daigaku zasshiPredicting Chronicity in Children and Adolescents With Newly Diagnosed Immune Thrombocytopenia at the Timepoint of Diagnosis Using Machine Learning-Based Approaches.
Pediatric blood & cancerExploration of the Pathogenic Mechanism of the Factor XIII A Subunit in a Patient With Congenital Factor XIII Deficiency.
Molecular genetics & genomic medicineRare Bleeding Disorders: Strategy for Diagnosis and Management- A Tertiary Care Experience from North India.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionComplications and adverse outcomes related to induced abortion in female from the Ukrainian-Russian military conflict regions: A multicentre study.
Wiadomosci lekarskie (Warsaw, Poland : 1960)Evaluation of Autoimmune FVIII Inhibitor Using Clot Waveform Analysis in Emicizumab-Treated Patients.
Journal of clinical medicineHyperfibrinolysis During Caesarean Section and Vaginal Delivery: A Prospective Cross-Sectional Study in the Delivery Room.
Journal of clinical medicineComparative Analysis of Coagulation and Liver Parameters in Individuals with Alcohol and Substance Use Disorders and Healthy Controls.
Diagnostics (Basel, Switzerland)Impact of Exercise/Sport on Well-being in von Willebrand Disease and Other Congenital Bleeding Disorders: An Update.
Seminars in thrombosis and hemostasisA CASE OF REFRACTORY IRON DEFICIENCY ANEMIA REVEALING HEREDITARY HEMORRHAGIC TELANGIECTASIA.
Georgian medical newsThe Humanitarian and Medical Crisis in Palestinian Territories: The Plight of Patients With Congenital Bleeding Disorders and Health Care Under Siege.
Haemophilia : the official journal of the World Federation of HemophiliaNovel compound heterozygous ITGA2B mutations in Glanzmann thrombasthenia associated with adolescent osteoporosis.
PlateletsComplement activation and altered fibrin clot properties in obstetric antiphospholipid syndrome: impact on thromboembolism and pregnancy.
Clinical rheumatologyReal-World Effectiveness and Safety of Fostamatinib in Difficult-to-Treat Immune Thrombocytopenia Patients. A Prospective, Multicenter Registry in France.
American journal of hematologyAssociações
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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.
- Non-cirrhotic portal-splenic-mesenteric vein thrombosis unmasking JAK2 V617F-positive polycythemia vera.
- Development and Validation of a Novel Thrombosis Prediction Model for Adult Immune Thrombocytopenia (ITP-THROMBO).
- Gastric outlet obstruction secondary to Peutz-Jeghers syndrome successfully managed by polypectomy.
- Case Report: Ataxia telangiectasia with severe hemorrhagic cystitis.
- Deleterious NKAP Mutations Are Associated with Musculoskeletal Abnormalities in Hemizygous Males and Skewed X Chromosome Inactivation in Heterozygous Females.
- Circulating Platelet-Neutrophil Aggregates as Novel Biomarker for Coagulopathy Diagnosis and Disseminated Intravascular Coagulation Prediction in Sepsis.
- Case Report: Differential diagnosis and clinical management of isolated prolonged activated partial thromboplastin time.
- Hypocoagulability among people living with HIV at Hoima Regional Referral Hospital, Western Uganda: a cross-sectional study.
- Primary Sjögren's syndrome-associated immune thrombocytopenia: from pathogenesis to treatment.
- Thrombotic thrombocytopenic purpura in pregnancy: Lessons from a case series of three patients.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:436169(Orphanet)
- OMIM OMIM:614486(OMIM)
- MONDO:0013775(MONDO)
- GARD:17726(GARD (NIH))
- Variantes catalogadas(ClinVar)
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
