Uma doença que afeta a formação dos vasos sanguíneos, resultando em ligações diretas e dilatadas entre artérias e veias. Isso se manifesta como pequenos vasinhos vermelhos ou roxos na pele e nas mucosas que sangram, e também como desvios de sangue (curto-circuitos) nos órgãos internos.
Introdução
O que você precisa saber de cara
Uma doença que afeta a formação dos vasos sanguíneos, resultando em ligações diretas e dilatadas entre artérias e veias. Isso se manifesta como pequenos vasinhos vermelhos ou roxos na pele e nas mucosas que sangram, e também como desvios de sangue (curto-circuitos) nos órgãos internos.
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Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 33 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 70 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
4 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Potent circulating inhibitor of angiogenesis. Signals through the type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta coreceptor endoglin/ENG
Secreted
Telangiectasia, hereditary hemorrhagic, 5
A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain.
Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and est
Cell membrane
Telangiectasia, hereditary hemorrhagic, 1
A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain.
In muscle physiology, plays a central role in the balance between atrophy and hypertrophy. When recruited by MSTN, promotes atrophy response via phosphorylated SMAD2/4. MSTN decrease causes SMAD4 release and subsequent recruitment by the BMP pathway to promote hypertrophy via phosphorylated SMAD1/5/8. Acts synergistically with SMAD1 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. Binds to SMAD binding elements (SBEs) (5'-GTCT/AGAC-3') within BMP response el
CytoplasmNucleus
Pancreatic cancer
A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue.
Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well
Cell membrane
Telangiectasia, hereditary hemorrhagic, 2
A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain.
Medicamentos e terapias
Mecanismo: Beta-1 adrenergic receptor antagonist
Mecanismo: Plasminogen inhibitor
Mecanismo: Vascular endothelial growth factor A inhibitor
Mecanismo: Matrix metalloproteinase 8 inhibitor
Mecanismo: Somatostatin receptor agonist
Mecanismo: CRL4(CRBN) E3 ubiquitin ligase inhibitor
Mecanismo: Vascular endothelial growth factor receptor inhibitor
Mecanismo: Beta-1 adrenergic receptor antagonist
Mecanismo: Fibroblast growth factor receptor inhibitor
Variantes genéticas (ClinVar)
2,883 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1,419 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
28 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 — Telangiectasia hemorrágica hereditária
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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Outros ensaios clínicos
95 ensaios clínicos encontrados, 23 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.393
Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia: Data from the Comprehensive HHT Outcomes Registry of the US (CHORUS).
Hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant vasculopathy afflicting 1 in 5000 individuals, is the second-most-common inherited bleeding disorder worldwide. Despite this prevalence, comprehensive data on disease manifestations and complications remain limited. To address this gap, the U.S. Congress allocated funding leading to the Comprehensive HHT Outcomes Registry of the United States (CHORUS; NCT06259292), a prospective, 15-center longitudinal registry enrolling unselected patients with confirmed HHT. In this initial report, we describe findings from the first 600 participants, with a median (range) age of 53 (0-88) years and 60% female. Despite most participants developing typical HHT manifestations by age 13, the majority (63%) were not diagnosed until mid-to-late adulthood. Recurrent spontaneous epistaxis occurred in 95% of participants, chronic gastrointestinal bleeding in 30%, and heavy menstrual bleeding in 35% of post-menarche females, together resulting in moderate-to-severe mucosal bleeding in 76%. Iron deficiency and/or anemia were diagnosed in 68%, with 41% requiring intravenous iron and 25% requiring red cell transfusions. Serious complications of solid-organ arteriovenous malformations were frequent, including intracranial hemorrhage (3%), pulmonary hemorrhage (2%), venous thromboembolism (7%), arterial thromboembolism (11%), heart failure (7%), and pulmonary hypertension (7%). This data from CHORUS, the first national registry of its kind, provides reliable, real-world estimates of the incidence, prevalence and severity of numerous HHT manifestations and complications. HHT has a high burden of moderate-to-severe bleeding, anemia, thrombosis, and major neurologic and cardiopulmonary complications. There is a mean interval between first symptoms and diagnosis of over two decades, during which substantial serious, preventable HHT morbidity, including early intracranial hemorrhage, may occur.
Hereditary Hemorrhagic Telangiectasia-Uncommon Findings and Novel Genetic Variants: A Single Centre Case Series from Southern India.
Hereditary hemorrhagic telangiectasia (HHT) is an important but under diagnosed bleeding disorder. Indian literature on HHT is limited to individual case reports and almost no information on the genetics of HHT. Here, we report a series of five unrelated patients who presented with various bleeding manifestations and anaemia. Two patients had history of bleeding from fingertips. Telangiectasias and visceral A-V malformations were the common phenotypic features. Splenic and bronchial artery aneurysms were present in 2 patients. Clinical exome sequencing identified known pathogenic variants in Activin A receptor-like type 1 in 2 patients and novel variants in Endoglin gene in 2 patients. 1 patient did not undergo genetic testing. Treatment included blood transfusion and thalidomide in 3 patients. HHT has to be considered during the evaluation of iron deficiency anemia in adult patients.
Characteristics Associated with Clinical Response to Pomalidomide in Hereditary Hemorrhagic Telangiectasia.
Hereditary hemorrhagic telangiectasia (HHT) results in recurrent severe epistaxis, chronic gastrointestinal bleeding, and other morbid manifestations. Pomalidomide was recently demonstrated to be efficacious for bleeding in HHT in the landmark PATH-HHT trial. Given that the vascular remodeling that results in bleeding improvement may require several months, characteristics associated with treatment response would be invaluable to plan treatment. Using data from PATH-HHT (NCT03910244), we identified characteristics associated with change from baseline in Epistaxis Severity Score (ESS, a well-validated 10-point HHT bleeding scale and the trial's primary endpoint) using multivariable-adjusted repeated measures models. Characteristics associated with a better response to pomalidomide at weeks 16-24 of the trial included a higher (more severe) baseline ESS (change from baseline, -0.76 [95% CI -0.99,-0.54] points per 1 point higher baseline score, P<0.001) and concomitant antifibrinolytic therapy (-0.73 [95% CI -1.48, 0.01] vs. no therapy, p=0.05). Characteristics associated with a less robust response were older age (0.29 [95% CI 0.05, 0.53] per 10 years older, P=0.02) and underlying ACVRL1 germline mutation (0.62 [95% CI -0.04,1.27] vs. ENG, SMAD4 or mutation not known, p=0.06]. Characteristics notably associated with placebo response (placebo effect) were patient-reported outcome measures, such that those experiencing more severe disease at baseline had less placebo effect. In conclusion, several baseline patient and disease characteristics were associated with pomalidomide response, findings that may help guide patient selection for the use of pomalidomide in HHT. Clinicaltrials.gov identifier: NCT03910244.
Cerebral vascular malformation screening in hereditary hemorrhagic telangiectasia: Balancing low diagnostic yield against high-risk hemorrhage.
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder predisposed to cerebral vascular malformations (CVMs). With conflicting international guidelines on systematic CVM screening in adults, we evaluated the prevalence, clinical relevance, and risks of screening in a national Danish HHT cohort. This combined prospective and retrospective study analyzed data from the Danish HHT Registry. The prospective arm involved systematic non-contrast brain MRI in 202 HHT patients (aged 18-65, no MRI in previous 5 years). The retrospective arm included 119 patients who underwent opportunistic MRI. Primary outcomes were CVM prevalence and characteristics; secondary outcomes included incidental findings and their clinical consequences. Systematic screening (n = 202) showed a low CVM yield (2.0 %), none required intervention, but a high rate of incidental findings (36.1 %), of which 41.1 % were clinically actionable. In a unified analysis of all CVM patients from both cohorts, all 8 spontaneous hemorrhages occurred in HHT Type 1 (ENG) patients. CVM prevalence was markedly higher in HHT Type 1 (ENG) (13.6 %) than HHT Type 2 (ACVRL1) (1.5 %). Systematic CVM screening in an unselected adult HHT cohort has a low diagnostic yield for immediately actionable CVMs, but a high rate of incidental findings. However, hemorrhage from undiagnosed CVMs, while devastating, was exclusively observed in HHT Type 1 (ENG) patients in our cohort. Consequently, our findings suggest that a risk-stratified approach, prioritizing HHT Type 1 (ENG), may offer a pragmatic strategy, while acknowledging that the high rate of incidental findings necessitates careful shared decision-making for other genotypes. Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, fingers, and nose. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. Some individuals with HHT have GI bleeding, which is rarely seen before age 50 years. The clinical diagnosis of HHT can be established in a proband with at least three of the following diagnostic criteria: recurrent epistaxis; mucocutaneous telangiectases in characteristic locations; visceral AVMs; a first-degree relative diagnosed with HHT on the basis of the preceding criteria. The molecular diagnosis is established by identification of a heterozygous pathogenic variant in ACVRL1, ENG, or SMAD4 by molecular genetic testing. Targeted therapies: Oral tranexamic acid or intravenous bevacizumab for epistaxis and GI bleeding; pomalidomide or pazopanib for refractory epistaxis and GI bleeding. Supportive care: In addition to targeted therapies, epistaxis is treated with humidification, topical moisturizing therapy, hemostatic products, ablation therapy, septodermoplasty, and Young's nasal closure as needed. GI bleeding and anemia is treated with iron replacement therapy and (if needed) blood transfusions. Pulmonary AVMs with a feeding vessel 2-3 mm or greater in diameter typically require occlusion for stroke prevention. When pulmonary shunting is present, use antibiotic prophylaxis for dental and non-sterile invasive procedures, taking care to prevent air bubbles from being introduced in intravenous lines; this may include an air filter when available and compatible with the medication being administered. Symptomatic hepatic AVMs are managed medically; liver transplantation is recommended for individuals who do not respond to medical therapy and who develop refractory high-output heart failure. Cerebral AVMs are treated as indicated by size, location, or symptoms by surgery, embolotherapy, and/or stereotactic radiosurgery. Treatment of pulmonary artery hypertension per cardiologist, pulmonologist, and other relevant specialists. Gastrointestinal polyps are treated according to guidelines for juvenile polyposis syndrome. Surveillance: Annual evaluation by a health care provider familiar with HHT for signs and symptoms of complications; annual hematocrit, hemoglobin, and ferritin; evaluation for pulmonary AVMs every five years with transthoracic contrast echocardiography (TCE) in adults and TCE or chest radiograph with pulse oximetry in children; brain MRI with and without contrast using sequences that detect blood products in infancy and again by age 18-20 years for cerebral AVMs; clinical evaluation for manifestations of heart or liver failure and hepatic imaging in adults to screen for hepatic AVM; colonoscopy at age 15 years and repeated every three years if no polyps are found, or annually with esophagogastroduodenoscopy if colonic polyps are identified in those with SMAD4-related HHT. Agents/circumstances to avoid: Vigorous nose blowing; lifting heavy objects; straining during bowel movements; finger manipulation in the nose; anticoagulant and nonsteroidal anti-inflammatory agents that interfere with clotting (including aspirin) should be avoided in individuals with significant nose or GI bleeding unless required for treatment of other medical condition; scuba diving unless TCE within the last five years was negative for evidence of a right-to-left shunt; liver biopsy. Evaluation of relatives at risk: Molecular genetic testing should be offered to at-risk family members if the germline pathogenic variant has been identified in the family. If the pathogenic variant in the family is not known, at-risk family members should be evaluated for signs and symptoms of HHT, and screening should be offered to at-risk family members if the diagnosis cannot be ruled out. Pregnancy management: Women with HHT considering pregnancy are screened and treated for pulmonary and cerebral AVMs; sizable pulmonary AVMs discovered during pregnancy are treated during the second trimester. Iron replacement is preferred for anemia, but transfusion of packed red blood cells may be necessary for symptomatic anemia despite aggressive iron replacement therapy. HHT is inherited in an autosomal dominant manner with considerable intrafamilial variability and age-related penetrance of individual manifestations. Most individuals diagnosed with HHT have an affected parent. If a parent of the proband is affected and/or is known to have the HHT-related pathogenic variant identified in the proband, the risk to the sibs of inheriting the pathogenic variant is 50%. Each child of an individual with HHT has a 50% chance of inheriting the pathogenic variant. Once the HHT-related pathogenic variant has been identified in an affected family member, predictive testing for at-risk relatives and prenatal/preimplantation genetic testing are possible.
Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder marked by mucocutaneous telangiectasias, recurrent epistaxis, and visceral arteriovenous malformations (AVMs). Neurologic risks include brain AVMs and hemorrhagic stroke. Several rare genetic and sporadic syndromes ("HHT-like" syndromes) share overlapping vascular features, complicating diagnosis. Differentiating these conditions is essential for accurate neurovascular risk assessment. A comprehensive literature review (PubMed, Scopus, Embase, Google Scholar; 1990-2025) targeted cerebrovascular manifestations of HHT and related syndromes. Key entities included Wyburn-Mason syndrome, Cobb syndrome, Klippel-Trénaunay syndrome (KTS), neurofibromatosis type 1 (NF1), PHACE(S) syndrome, capillary malformation-AVM (CM-AVM), Parkes Weber syndrome (PWS), juvenile polyposis/HHT overlap (JP-HHT), HHT type 5 (BMP9/GDF2), PTEN hamartoma tumor syndrome (PHTS), and blue rubber bleb nevus syndrome (BRBNS). Data on gene variants, lesion types, neuroimaging, stroke risk, and neurologic outcomes were synthesized. High-flow cerebrovascular malformations similar to HHT are prominent in Wyburn-Mason syndrome, CM-AVM, and PWS, conferring a substantial hemorrhagic stroke risk. NF1 and PHACE(S) primarily feature occlusive arteriopathies linked to ischemic events. KTS, BRBNS, and PHTS predominantly show low- or mixed-flow anomalies with lower CNS hemorrhagic risk but increased thrombotic complications. JP-HHT carries added gastrointestinal cancer risk via SMAD4 variants, while HHT type 5 often presents incompletely. Genetic testing and tailored neuroimaging are critical for differentiation. Although many syndromes mimic HHT, few combine mucosal telangiectasias, high-flow AVMs, and recurrent hemorrhage. Integrating clinical, imaging, and genetic data enables precise diagnosis, risk stratification, and personalized management.
Publicações recentes
Genotype-driven cerebrovascular risk across age and sex in hereditary hemorrhagic telangiectasia.
🥈 Ensaio clínicoVariability in Agitated Saline Echocardiography Protocols: A Cross-Sectional Analysis of Bubble Study Techniques in Echo Labs Across Alberta, Canada.
🥇 Ensaio randomizadoWhen findings hurt: Mental health effects of cerebral MRI screening in patients with Hereditary Hemorrhagic Telangiectasia.
🥉 Relato de casoGenotype-phenotype correlations and protein domain-level predictors of cerebrovascular malformations in hereditary hemorrhagic telangiectasia.
🥈 ObservacionalTelangiectatic Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia.
📖 Revisão📚 EuropePMC1.899 artigos no totalmostrando 196
Overcoming Complexity: Percutaneous Embolization for Hepatic Artery Pseudoaneurysms in Hereditary Hemorrhagic Telangiectasia (HHT).
The Indian journal of radiology & imagingLeft atrial appendage closure for atrial fibrillation stroke prevention in hereditary hemorrhagic telangiectasia is effective and safe with simplified, time-limited antithrombotic therapy.
European journal of internal medicineInfluence of hormonal status in hereditary hemorrhagic telangiectasia - analysis of an online patient questionnaire.
BMC pregnancy and childbirthLeft Atrial Appendage Occlusion in Patients With Hereditary Hemorrhagic Telangiectasia and Atrial Fibrillation.
JACC. Clinical electrophysiologySafety and Efficacy of the LOBO Vascular Occlusion Device for Embolization of Pulmonary Arteriovenous Malformations (PAVM): A Single-Center Retrospective Experience.
Journal of vascular and interventional radiology : JVIRClinical Spectrum of Hereditary Hemorrhagic Telangiectasia: Data from the Comprehensive HHT Outcomes Registry of the US (CHORUS).
BloodMolecular dynamics simulations refine the pathogenicity of ACVRL1 kinase domain variants by quantifying impacts on ATP binding in pulmonary arterial hypertension.
Journal of structural biologyFlow-induced Klf4-Akt signaling links EC cycling to mural cell defects in arterial-venous malformations.
TheranosticsBMPR2 Splice-Site Variant in a Patient With Pulmonary Arteriovenous Malformation and Delayed-Onset Pulmonary Arterial Hypertension: A Case Report and Mechanistic Phenocopy Hypothesis.
American journal of medical genetics. Part ANavigating Risk in Atrial Fibrillation and Hereditary Hemorrhagic Telangiectasia: Antithrombotic Versus Antifibrinolytic Therapy.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryProspective evidence of increased venous thromboembolism in hereditary hemorrhagic telangiectasia.
Journal of thrombosis and thrombolysisCompressive Coronary Hematoma in an Elderly Woman Receiving Oral Anticoagulation Treated With Cutting Balloon Fenestration.
JACC. Case reportsAn Interesting Case of Hereditary Hemorrhagic Telangiectasia in a Patient with Recurrent Epistaxis.
Annals of African medicinePulmonary arteriovenous malformation in pregnancy: a case report and literature review.
Maternal health, neonatology and perinatologyThe Effect of Bevacizumab Therapy on Reducing Erythrocyte Transfusion Requirements and Preventing Iron Deficiency in Patients With Hereditary Hemorrhagic Telangiectasia.
CureusCharacterizing Self-Reported Daily Diary Epistaxis Measures in Hereditary Hemorrhagic Telangiectasia.
Laryngoscope investigative otolaryngologyModeling Somatic Second-Hit Mutations in Novel Mouse Models of Hereditary Hemorrhagic Telangiectasia.
bioRxiv : the preprint server for biologyUnmasking a Rare Genetic Puzzle: Hereditary Hemorrhagic Telangiectasia in a Black Kenyan Woman: A Case Report.
Case reports in gastrointestinal medicineApplications of genetic testing in cardiovascular disease.
Current opinion in cardiologyHereditary Hemorrhagic Telangiectasia-Uncommon Findings and Novel Genetic Variants: A Single Centre Case Series from Southern India.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionOsteomalacia Following Iron Infusion Therapy in a Patient With Rendu-Osler-Weber Syndrome: F-18-FDG PET/CT Discrimination of a Stress Fracture in the Setting of a Musculoskeletal Tumor Mimic.
Clinical case reportsCharacteristics Associated with Clinical Response to Pomalidomide in Hereditary Hemorrhagic Telangiectasia.
Blood advancesAn Uncommon Cause of Massive Hemothorax: Pulmonary Arteriovenous Malformation in the Right Middle Lobe.
Open respiratory archivesPulmonary hypertension associated with hereditary hemorrhagic telangiectasia: from genetics to clinical management.
The European respiratory journalCerebral vascular malformation screening in hereditary hemorrhagic telangiectasia: Balancing low diagnostic yield against high-risk hemorrhage.
Clinical neurology and neurosurgeryEngasertib in Hereditary Hemorrhagic Telangiectasia. Reply.
The New England journal of medicineEngasertib in Hereditary Hemorrhagic Telangiectasia.
The New England journal of medicineCerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview.
European journal of neurologyIncreased 99mTc-MAA Uptake in Supraclavicular Brown Adipose Tissue in a Pediatric Patient With Hereditary Hemorrhagic Telangiectasia.
Clinical nuclear medicineDiverse Genetic Etiologies of Unilateral Polymicrogyria.
Annals of neurologyBmp9 regulates Notch signaling and the temporal dynamics of angiogenesis via Lunatic Fringe.
Developmental cell[Clinical phenotype and genetic analysis of a child with Hereditary hemorrhagic telangiectasia combined with growth hormone deficiency due to variant of ENG gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsVascular Disease Patient Information Page: Hereditary hemorrhagic telangiectasia (HHT).
Vascular medicine (London, England)Hereditary hemorrhagic telangiectasia patient with pulmonary arteriovenous malformation: A case report.
MedicineGlobal prevalence of hereditary hemorrhagic telangiectasia-associated variants estimated by analysis of large-scale genomic databases.
Journal of thrombosis and haemostasis : JTHLiver transplantation for hepatocellular carcinoma in a patient with hereditary hemorrhagic telangiectasia: a case report.
Frontiers in surgeryBeyond epistaxis: cascade screening and presymptomatic treatment of hereditary hemorrhagic telangiectasia.
BMC pediatricsSomatic PIK3CA Activating Mutation in a Plexiform Lesion of a Patient With HHT and PAH.
JACC. Case reportsLong-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 SurgeryFamilial multiple fetal cerebral arteriovenous malformations: a case report of maternal genetic susceptibility and fetal manifestation.
Frontiers in geneticsA contemporary picture of bacterial infections in patients with hereditary hemorrhagic telangiectasia: A nationwide cohort study.
The Journal of infectionSecreted exosomes induce filopodia formation.
eLifePharmacotherapy Risks in Rare Genetic Diseases: Cross-Referencing ACMG Secondary Findings v3.2 List With Clinical Databases.
Clinical and translational scienceManagement Challenges of Life-Threatening Thrombosis and Hemorrhage in a Jehovah's Witness Patient With Hereditary Hemorrhagic Telangiectasia: A Case Report.
CureusA 45-Year-Old Woman With Hereditary Hemorrhagic Telangiectasia and Persistent Exertional Dyspnea and Peripheral Edema.
ChestPropranolol Reduces Epistaxis in Hereditary Hemorrhagic Telangiectasia: A Large Retrospective Study.
Journal of clinical medicinePomalidomide for hereditary hemorrhagic telangiectasia: after trial longitudinal assessment study (PATH-HHT ATLAS).
Blood advancesA CASE OF REFRACTORY IRON DEFICIENCY ANEMIA REVEALING HEREDITARY HEMORRHAGIC TELANGIECTASIA.
Georgian medical newsLeft atrial appendage closure in patients with hereditary hemorrhagic telangiectasia and atrial fibrillation: a prospective study and systematic review.
European journal of internal medicineModulating ACVRL1 Expression in HMEC1 Cells as a Simplified In Vitro Model for Hereditary Hemorrhagic Telangiectasia (HHT) Type 2 Studies.
In vivo (Athens, Greece)Arteriovenous Malformations (AVMs): Molecular Pathogenesis, Clinical Features, and Emerging Therapeutic Strategies.
BiomoleculesUnusual Onset of Hereditary Hemorrhagic Telangiectasia Due to Somatic Mutational Mosaicism: Case Report and Review of the Literature.
Children (Basel, Switzerland)Long-Term Outcomes of Transarterial Embolization for Pulmonary Arteriovenous Malformations in Pediatric Hereditary Hemorrhagic Telangiectasia.
Cardiovascular and interventional radiologyRole of Sclerotherapy in Treating Oral Vascular Malformations in Hereditary Hemorrhagic Telangiectasia.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryInterventional Management of Pulmonary Arteriovenous Malformations: Imaging Primer.
Radiographics : a review publication of the Radiological Society of North America, IncDecreased endothelial cell retinoic acid signaling accelerates progression of single ventricle pulmonary arteriovenous malformations.
bioRxiv : the preprint server for biologyBalancing Bleeding and Thrombosis: A Rare Case of Hereditary Hemorrhagic Telangiectasia With Antiphospholipid Syndrome.
CureusManagement of splanchnic venous thrombosis after splenectomy in hematologic diseases. systematic review, meta-analysis and consensus guidelines.
International journal of surgery (London, England)Spontaneous Unilateral Superior Ophthalmic Vein Thrombosis Associated With Hereditary Hemorrhagic Telangiectasia.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyThe role of otorhinolaryngologists in the treatment of hereditary hemorrhagic telangiectasia.
Head & face medicineBiofeedback vs Respiratory Retraining for Inducible Laryngeal Obstruction: A Randomized Clinical Trial.
JAMA otolaryngology-- head & neck surgeryA novel ACVRL1 mutation in a patient with hereditary hemorrhagic telangiectasia coexisting with pulmonary arterial hypertension.
Polish archives of internal medicineWhat's new in hereditary hemorrhagic telangiectasia?
Hematology. American Society of Hematology. Education ProgramAntiangiogenic Treatment of Patients with Hereditary Hemorrhagic Telangiectasia: Experience of a Hungarian Center.
Journal of clinical medicinePatient interpretation and implementation of air embolism prevention guidelines in hereditary hemorrhagic telangiectasia (HHT): a survey-based study.
CVIR endovascularEngasertib versus Placebo for Bleeding in Hereditary Hemorrhagic Telangiectasia.
The New England journal of medicineLeft extended hepatectomy with biliary resection and reconstruction for hilar cholangiocarcinoma in patient with Osler-Rendu-Weber disease: a case report and review of literature.
Updates in surgeryNasal Septal Perforation and Hereditary Hemorrhagic Telangiectasia: Evolution in Management.
Laryngoscope investigative otolaryngologyAn angiopoietin-2 vaccine improves arteriovenous malformation pathology in hereditary hemorrhagic telangiectasia mice.
bioRxiv : the preprint server for biologyAssociation of In-Office Sclerotherapy With Epistaxis Severity and Quality-of-Life in Hereditary Hemorrhagic Telangiectasia.
International forum of allergy & rhinologyExecutive summary of the 15th HHT international scientific conference.
AngiogenesisTargeting a Pathogenic Variant Creating an Upstream AUG in the ENG 5' Untranslated Region with Antisense Oligonucleotides Fails to Restore Protein Expression.
Nucleic acid therapeuticsSplenomegaly in a Patient with Hereditary Hemorrhagic Telangiectasia.
The American journal of medicineTreatment outcomes of cerebral arteriovenous malformations in patients with Hereditary hemorrhagic Telangiectasia: A case series from a Single-Center experience.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaClinical Efficacy and Safety of Intralesional Bevacizumab in Dermatology: Insights from a Systematic Review.
Dermatology practical & conceptualCommon features of rare disease patients in the emergency department: a systematised literature review.
Orphanet journal of rare diseasesPreoperative Computed Tomography Utilization in Patients Undergoing Balloon Sinus Dilation.
JAMA otolaryngology-- head & neck surgeryBalloon Sinus Dilation Use.
JAMA otolaryngology-- head & neck surgeryCase report: Successful use of sotatercept to treat pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia.
Respiratory medicine case reportsEpistaxis Prevention, Treatment, and Future Perspectives for Hereditary Hemorrhagic Telangiectasia.
Journal of clinical medicineA case of hereditary hemorrhagic telangiectasia with hypoxemia onset in the neonatal period.
BMC pulmonary medicinePolidocanol Sclerotherapy in Hereditary Hemorrhagic Telangiectasia Patients Does Not Seem to Decrease Epistaxis-Related Outpatient and Emergency Visits-A Retrospective View.
Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial SurgeryA Case Report of Pulmonary Arterial Hypertension Associated With Hereditary Hemorrhagic Telangiectasia Successfully Treated With Riociguat.
CureusSix-year follow-up after liver transplantation using a graft from a deceased donor with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): pushing the limit in the use of extended criteria donor.
Updates in surgeryDermatologic findings in hereditary hemorrhagic telangiectasia: association with epistaxis, visceral involvement, and genetics.
Italian journal of dermatology and venereologyHereditary Hemorrhagic Telangiectasia: A Review of Gene Targets and Emerging Therapies.
Cardiology in reviewPerioperative management of critical obstetric hemorrhage after cesarean delivery in a patient with hereditary hemorrhagic telangiectasia: a case report.
JA clinical reportsFrom Scar to Shunt: Incidental Discovery of Pulmonary Arteriovenous Malformation in a Healthy Adult Trauma Patient.
CureusNasal RADA16 hydrogel application decreases epistaxis severity scores in adults with hereditary hemorrhagic telangiectasia.
Blood vessels, thrombosis & hemostasisValidation and clinical application of the hereditary hemorrhagic telangiectasia-specific quality of life scale.
Journal of thrombosis and haemostasis : JTHReduced-Dose Chest CTA for the Detection of Pulmonary Arteriovenous Malformations in Pediatric Patients With Hereditary Hemorrhagic Telangiectasia.
Journal of computer assisted tomographyEndoscopic Vascular Grading Directs Stepwise Therapy in Hereditary Hemorrhagic Telangiectasia.
Laryngoscope investigative otolaryngologyEvolution of angiogenic and inflammatory biomarkers in patients with hereditary hemorrhagic telangiectasia during treatment with bevacizumab: study protocol.
Revista clinica espanolaLetter by Jiang et al Regarding Article, "Arterial-Lymphatic-Like Endothelial Cells Appear in Hereditary Hemorrhagic Telangiectasia 2 and Contribute to Vascular Leakage and Arteriovenous Malformations".
CirculationFactors Associated With Dizziness Among Patients With Vestibular Schwannoma.
JAMA otolaryngology-- head & neck surgeryCase report: Use of sotatercept to treat pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia.
Respiratory medicine case reportsHereditary Hemorrhagic telangiectasia: a rare familial case with delayed diagnosis despite decades of recurrent bleeding.
Oxford medical case reportsHereditary hemorrhagic telangiectasia in a 68-year-old man.
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienneA retrospective study on triggering factors and management of epistaxis - our experience in a tertiary ENT clinic.
Journal of medicine and lifeObstructive airway disorders affecting individuals with hereditary hemorrhagic telangiectasia: A database review.
PloS oneFamily phenotypic profile in hereditary hemorrhagic telangiectasia: genotype-phenotype correlation in a pediatric Italian population.
Italian journal of pediatricsUnanticipated Hypoxemia in Late Pregnancy Revealing Hereditary Hemorrhagic Telangiectasia.
Internal medicine (Tokyo, Japan)Complications of liver vascular malformations in hereditary hemorrhagic telangiectasia during pregnancy.
European journal of obstetrics, gynecology, and reproductive biologyHereditary Hemorrhagic Telangiectasia Prevalence Estimates Calculated From GnomAD Allele Frequencies of Predicted Pathogenic Variants in ENG and ACVRL1.
Circulation. Genomic and precision medicineRare Non-Tumoral Lesions of the Liver: A Pictorial Review.
Seminars in ultrasound, CT, and MRCase Report: Shared manifestation, distinct etiologies: severe pulmonary hypertension in both mother and neonate.
Frontiers in pediatricsLiver Transplantation Using a Whole-Liver Graft Donated from a Brain-Dead Donor Complicated with Rendu-Osler-Weber Syndrome: A Case Report.
Surgical case reportsCerebrovascular malformations different from AVMs in patients with hereditary hemorrhagic telangiectasia: a systematic review.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyEpistaxis due to hereditary hemorrhagic telangiectasia: A case report and literature review.
The Journal of international medical researchPrenatal discovery of hereditary hemorrhagic telangiectasia-associated hepatic arteriovenous malformations by multimodal ultrasound and whole-exome sequencing: a rare case description and literature analysis.
Quantitative imaging in medicine and surgeryAssessing racial differences in North American hereditary hemorrhagic telangiectasia study recruitment and care.
Orphanet journal of rare diseasesSuccessful Treatment of an Advanced Larynx Carcinoma Using Neo-Adjuvant Chemo-Immunotherapy and Cisplatin/Radiotherapy for a Patient with Rendu-Osler Disease.
Journal of clinical medicineFrom Epistaxis to Embolization: A Case of Hereditary Hemorrhagic Telangiectasia Presenting With Spontaneous Hemothorax.
CureusGeneration of patient-derived and gene-corrected hiPSC lines from Hereditary Hemorrhagic Telangiectasia type 2 patients with ACVRL1 c.1042delG mutation.
Stem cell researchLiving Donor Liver Transplantation for Symptomatic Liver Involvement in Infant With Hereditary Hemorrhagic Telangiectasia.
Hepatology research : the official journal of the Japan Society of HepatologyNovel Simplified Nasal Endoscopy Grading System for Hereditary Hemorrhagic Telangiectasia Patients.
The LaryngoscopeALK1-BMPRII agonism by clustering bispecific antibodies treats hereditary hemorrhagic telangiectasia.
bioRxiv : the preprint server for biologyBumping Into Doors: A Case Report of Brain Abscess as a Complication of Pulmonary Arteriovenous Malformation.
CureusPulsatility of Telangiectasias on Dermoscopy: A Clue to the Diagnosis of Hereditary Hemorrhagic Telangiectasia.
Indian dermatology online journalPromise, Pitfalls, and Precision: Standardizing Clinical Framework for Hereditary Hemorrhagic Telangiectasia and a Call for Cost-Conscious Innovation.
American journal of hematologyEarly Cyanosis: Do Not Wait Too Long.
Pediatric pulmonologyCommon and distinct circulating microRNAs in four neurovascular disorders.
Biochemistry and biophysics reportsProvince of Alberta Jurisdictional Standardized Operating Protocol (SOP) for Screening Brain Vascular Malformations.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesConsensus on Sclerotherapy for Patients With Hereditary Hemorrhagic Telangiectasia-Related Epistaxis.
JAMA otolaryngology-- head & neck surgeryRE: acute aortic dissection in a patient with hereditary hemorrhagic telangiectasia associated with juvenile polyposis due to SMAD4 mutation.
AngiogenesisHereditary hemorrhagic telangiectasia in pediatrics: descriptive study in a specialized unit.
Archivos argentinos de pediatriaA Rare Case of Intracranial Hemorrhage Mimicking a Neoplasm in a Child With Hereditary Hemorrhagic Telangiectasia.
CureusCobalamin and iron deficiency still presents a challenge in hereditary hemorrhagic telangiectasia.
Scientific reportsFamily planning, sexual activity and contraception in hereditary hemorrhagic telangiectasia: a European survey study.
Orphanet journal of rare diseasesReviewing the Efficiency of the Initial Work-Up for Hereditary Hemorrhagic Telangiectasia in a Tertiary Referral University Center in Belgium.
Ear, nose, & throat journalContrast-Enhanced Cardiac Computed Tomography and the Presence of Intravascular Air: A Patient Safety Study.
Journal of clinical medicineDiagnosis of hereditary hemorrhagic telangiectasia based on endoscopic detection of oral telangiectasias.
EndoscopyHereditary hemorrhagic telangiectasia with pulmonary hypertension: a report of three cases.
Journal of thoracic diseaseOverlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia.
Communications biologyAllelic dropout in the endoglin (ENG) gene caused by common duplication beyond the primer binding site.
Frontiers in geneticsPIEZO1 Overexpression in Hereditary Hemorrhagic Telangiectasia Arteriovenous Malformations.
CirculationStandardization of Terminology, Definitions, and Outcome Criteria for Bleeding in Hereditary Hemorrhagic Telangiectasia: International Consensus Report.
American journal of hematologyCoexistence of Hereditary Hemorrhagic Telangiectasia and Moyamoya Disease: A Case Report Highlighting a Potential Genetic Synergy.
The application of clinical geneticsThe Role of Somatic Mutation in Hereditary Hemorrhagic Telangiectasia Pathogenesis.
Journal of clinical medicineGenotype-Phenotype Relationship in Hereditary Hemorrhagic Telangiectasia: Quality of Life and Cardiovascular Risk Evaluation.
Journal of clinical medicinePulmonary Arterious Malformation as Rare Cause of ST-Segment Elevation Myocardial Infarction.
JACC. Case reportsCharacterizing the Healthcare Utilization and Costs of Hereditary Hemorrhagic Telangiectasia.
American journal of hematologyWhen Cholangitis Reveals Liver Involvement in Hereditary Hemorrhagic Telangiectasia: A Case Report.
CureusBone morphogenetic protein-9 controls pulmonary vascular growth and remodeling.
Proceedings of the National Academy of Sciences of the United States of AmericaPosttreatment Monitoring of Pulmonary Arteriovenous Malformations: Challenges and Approaches.
ChestOsler-Weber-Rendu Syndrome: A Case Report and Brief Literature Review.
South Dakota medicine : the journal of the South Dakota State Medical AssociationPediatric Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia: Screening, Diagnosis, and Management.
Journal of clinical medicineCase Report: Multiple cerebral infarctions in a patient with hereditary hemorrhagic telangiectasia following a fall.
Frontiers in geneticsGastrointestinal Bleeding in Hereditary Hemorrhagic Telangiectasia Accompanied with Very Severe Thrombocytopenia.
The American journal of case reportsCongenital Pulmonary Airway Malformation with Pulmonary Arteriovenous Malformation in Adulthood: A Case Report.
Surgical case reportsInterventional approach to splenic vascular malformation, a rare manifestation of Rendu-Osler-Weber syndrome.
Radiology case reportsHemoptysis caused by hereditary hemorrhagic telangiectasia: A case report and literature review.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesClinical Phenotypes of a Pediatric Cohort with GDF2-Related Hereditary Hemorrhagic Telangiectasia.
Journal of clinical medicineSuccessful use of aflibercept for high cardiac output in hereditary hemorrhagic telangiectasia after failure of pazopanib and bevacizumab therapy.
Journal of thrombosis and haemostasis : JTHHereditary hemorrhagic telangiectasia and atrial fibrillation - percutaneous left atrial appendage closure as an alternative strategy for anticoagulation.
Kardiologia polskaAcute aortic dissection in a patient with Hereditary Hemorrhagic Telangiectasia associated with Juvenile Polyposis due to SMAD4 mutation: case report and literature review.
AngiogenesisMechanotransduction in Development: A Focus on Angiogenesis.
BiologyA novel SMAD9 nonsense variant in an 11-year-old Japanese patient with diffuse pulmonary arteriovenous malformation: A case report.
Journal of cardiology casesArteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center.
Frontiers in geneticsThe Complexities of Managing Acute Coronary Syndrome in a Patient With Hereditary Hemorrhagic Telangiectasia: A Case Report and Literature Review.
CureusRapid improvement in postpartum pulmonary hypertension associated with hereditary hemorrhagic telangiectasia: A case report and review of literature.
World journal of clinical casesSpecifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-ENG and ACVRL1.
Human mutationSuccessful coil embolization of 3 pulmonary arteriovenous malformations using a gadolinium contrast agent in a patient with severe iodine allergy: A case report.
Radiology case reportsSilastic Septal Splints in the Management of Refractory Epistaxis in Hereditary Hemorrhagic Telangiectasia.
International forum of allergy & rhinologyACVRL1 variation-induced hereditary hemorrhagic telangiectasia presenting with pulmonary arterial hypertension: clinical and genetic analyses of three case studies.
BMC cardiovascular disordersImaging manifestations of hereditary hemorrhagic telangiectasia with pulmonary arterial hypertension: a case report.
Frontiers in cardiovascular medicineCase report: Novel homozygous ACVRL1 missense variant in a family with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension: findings suggest a hypomorphic allele.
Frontiers in genetics[A case of hereditary hemorrhagic telangiectasia treated with bevacizumab].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyCombined Fascia Iliaca and Sacral Erector Spinae Plane Blocks for Hip Surgery in Hereditary Hemorrhagic Telangiectasia: A Case Report.
A&A practiceThe Effect of Systemic Bevacizumab on Epistaxis-Related Outcomes in Hereditary Hemorrhagic Telangiectasia: A Systematic Review and Meta-Analysis.
International forum of allergy & rhinologyImaging and interventions in vascular malformations of the gastrointestinal tract.
Abdominal radiology (New York)Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis.
American journal of human geneticsGenetic Insights Into Hemorrhagic Stroke and Vascular Malformations: Pathogenesis and Emerging Therapeutic Strategies.
StrokeA Framework for Clinical Trials in Hereditary Hemorrhagic Telangiectasia-Associated Epistaxis-Navigating the PATH.
JAMA otolaryngology-- head & neck surgeryThe disruptive influence of the Ala218Val variant on the ENG protein.
microPublication biologySurgical resection of diffuse pulmonary arteriovenous malformations (PAVMs).
JTCVS openQuantifying the burden of hereditary hemorrhagic telangiectasia on quality of life and psychological health: a cross-sectional study.
Orphanet journal of rare diseasesHealth outcomes following COVID-19 infection and vaccination in hereditary hemorrhagic telangiectasia.
Orphanet journal of rare diseasesBasic Knowledge and Overview of Brain AVMs.
Journal of neuroendovascular therapyAn unusual gastric submucosal prominence diagnosed as hereditary hemorrhagic telangiectasia.
Gastroenterology reportPulmonary arteriovenous malformation causing lung sequestration and media infarction: a case report.
Frontiers in medicineSurgical Management of Moderate to Severe Epistaxis in Hereditary Hemorrhagic Telangiectasia: Systematic Review and Meta-Analysis.
American journal of rhinology & allergyUpdates on the Pathogenesis and Therapeutic Approaches for Hereditary Hemorrhagic Telangiectasia.
Current vascular pharmacologyEmbolotherapy for Pulmonary Arteriovenous Malformations in the Pediatric Population with Hereditary Hemorrhagic Telangiectasias-A Retrospective Case Series.
Journal of vascular and interventional radiology : JVIRFrom bench to bedside: murine models of inherited and sporadic brain arteriovenous malformations.
AngiogenesisEfficacy of bevacizumab in hereditary hemorrhagic telangiectasia: a systematic review and network meta-analysis.
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 SurgeryReuse, recycle, repurpose: pazopanib for bleeding in hereditary hemorrhagic telangiectasia.
Journal of thrombosis and haemostasis : JTHFactors associated with development of depression in adult patients with brain arteriovenous malformations.
Clinical neurology and neurosurgeryIschemic cholangiopathy after cholecystectomy in a patient with hereditary hemorrhagic telangiectasia, a complex differential diagnosis.
Revista espanola de enfermedades digestivasDivergent endothelial mechanisms drive arteriovenous malformations in Alk1 and SMAD4 loss-of-function.
bioRxiv : the preprint server for biologyA case of fatal cerebral air embolism in a patient with Osler-Weber-Rendu Disease.
Acta neurologica BelgicaMolecular Basis of Interchain Disulfide Bond Formation in BMP-9 and BMP-10.
Journal of molecular biologyConservative Pulmonary Arteriovenous Malformation Screening in Children: Re-Evaluation of Safety.
Pediatric pulmonologyElective Thoracic Surgical Resections for Pulmonary Arteriovenous Malformations - A 16 Year Single-Center Experience.
Pulmonary circulationReperfusion of Pulmonary Arteriovenous Malformations Treated by Catheter Embolization.
Journal of clinical medicineDiagnostic and Prognostic Value of Angiogenic Status in Hereditary Hemorrhagic Telangiectasia.
Diagnostics (Basel, Switzerland)Associações
Organizações que acompanham esta doença — pra ter apoio e orientação
Associação brasileira dedicada a Hemofilia.
Comunidades
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Ainda não existe comunidade no Raras para Telangiectasia hemorrágica hereditária
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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.
- Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia: Data from the Comprehensive HHT Outcomes Registry of the US (CHORUS).
- Hereditary Hemorrhagic Telangiectasia-Uncommon Findings and Novel Genetic Variants: A Single Centre Case Series from Southern India.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion· 2026· PMID 41728146mais citado
- Characteristics Associated with Clinical Response to Pomalidomide in Hereditary Hemorrhagic Telangiectasia.
- Cerebral vascular malformation screening in hereditary hemorrhagic telangiectasia: Balancing low diagnostic yield against high-risk hemorrhage.
- Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview.
- Genotype-driven cerebrovascular risk across age and sex in hereditary hemorrhagic telangiectasia.
- Variability in Agitated Saline Echocardiography Protocols: A Cross-Sectional Analysis of Bubble Study Techniques in Echo Labs Across Alberta, Canada.
- When findings hurt: Mental health effects of cerebral MRI screening in patients with Hereditary Hemorrhagic Telangiectasia.
- Genotype-phenotype correlations and protein domain-level predictors of cerebrovascular malformations in hereditary hemorrhagic telangiectasia.
- Telangiectatic Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:774(Orphanet)
- MONDO:0019180(MONDO)
- GARD:6626(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q776881(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
