Angioedema Hereditário (AEH) é uma doença genética caracterizada pelo aparecimento de inchaços (edemas) que são temporários e voltam a acontecer, atingindo a pele (por baixo dela) e/ou as mucosas (membranas que revestem partes do corpo, como o intestino ou a boca). Esses inchaços resultam em partes do corpo inchadas e/ou dor de barriga.
Introdução
O que você precisa saber de cara
Angioedema Hereditário (AEH) é uma doença genética caracterizada pelo aparecimento de inchaços (edemas) que são temporários e voltam a acontecer, atingindo a pele (por baixo dela) e/ou as mucosas (membranas que revestem partes do corpo, como o intestino ou a boca). Esses inchaços resultam em partes do corpo inchadas e/ou dor de barriga.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
+ 29 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 59 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
7 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta-factor XIIa. Alpha-factor XIIa activates factor XI to factor XIa (PubMed:2019570, PubMed:21304106, PubMed:8427954)
Secreted
Factor XII deficiency
An asymptomatic anomaly of in vitro blood coagulation. Its diagnosis is based on finding a low plasma activity of the factor in coagulating assays. It is usually only accidentally discovered through pre-operative blood tests. Factor XII deficiency is divided into two categories, a cross-reacting material (CRM)-negative group (negative F12 antigen detection) and a CRM-positive group (positive F12 antigen detection).
Plasmin dissolves the fibrin of blood clots and acts as a proteolytic factor in a variety of other processes including embryonic development, tissue remodeling, tumor invasion, and inflammation. In ovulation, weakens the walls of the Graafian follicle. It activates the urokinase-type plasminogen activator, collagenases and several complement zymogens, such as C1, C4 and C5 (PubMed:6447255). Cleavage of fibronectin and laminin leads to cell detachment and apoptosis. Also cleaves fibrin, thrombosp
Secreted
Plasminogen deficiency
A disorder characterized by decreased serum plasminogen activity. Two forms of the disorder are distinguished: type 1 deficiency is additionally characterized by decreased plasminogen antigen levels and clinical symptoms, whereas type 2 deficiency, also known as dysplasminogenemia, is characterized by normal, or slightly reduced antigen levels, and absence of clinical manifestations. Plasminogen deficiency type 1 results in markedly impaired extracellular fibrinolysis and chronic mucosal pseudomembranous lesions due to subepithelial fibrin deposition and inflammation. The most common clinical manifestation of type 1 deficiency is ligneous conjunctivitis in which pseudomembranes formation on the palpebral surfaces of the eye progresses to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa.
Serine protease inhibitor, which acrs as a regulator of the classical complement pathway (PubMed:10946292, PubMed:11527969, PubMed:3458172, PubMed:6416294). Forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases (PubMed:10946292, PubMed:3458172, PubMed:6416294). May also regulate blood coagulation, fibrinolysis and the generation of kinins (PubMed:8495195). Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein (PubMed:8495195)
Secreted
Angioedema, hereditary, 1
An autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. Hereditary angioedema due to C1 esterase inhibitor deficiency is comprised of two clinically indistinguishable forms. In hereditary angioedema type 1, serum levels of C1 esterase inhibitor are decreased, while in type 2, the levels are normal or elevated, but the protein is non-functional.
Kininogens are inhibitors of thiol proteases. HMW-kininogen plays an important role in blood coagulation by helping to position optimally prekallikrein and factor XI next to factor XII; HMW-kininogen inhibits the thrombin- and plasmin-induced aggregation of thrombocytes. LMW-kininogen inhibits the aggregation of thrombocytes. LMW-kininogen is in contrast to HMW-kininogen not involved in blood clotting The active peptide bradykinin is a potent vasodilatator that is released from HMW-kininogen sho
Secreted, extracellular space
High molecular weight kininogen deficiency
Autosomal recessive coagulation defect. Patients with HWMK deficiency do not have a hemorrhagic tendency, but they exhibit abnormal surface-mediated activation of fibrinolysis.
Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in endocytic recycling. Implicated in VEGF signal transduction by regulating the levels of the receptor KDR (By similarity)
Cell membraneNucleus membraneCytoplasmic vesicle membraneLate endosome membrane
Angioedema, hereditary, 7
A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE7 is an autosomal dominant form characterized by onset of recurrent swelling of the face, lips, and oral mucosa in the second decade.
Binds and activates TEK/TIE2 receptor by inducing its dimerization and tyrosine phosphorylation. Plays an important role in the regulation of angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskeleton, but also maintenance of vascular quiescence. Required for normal angiogenesis and heart development during embryogenesis. After birth, activates or inhibits angiogenesis, depending on the context. Inhibits angiogenesis a
Secreted
Angioedema, hereditary, 5
A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE5 is an autosomal dominant form characterized by onset of episodic swelling of the face, lips, hands, and abdomen in the second decade of life.
Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to heparan sulfate. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes Simplex Virus-1 (HSV-1) and permits its entry. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate
Golgi apparatus membrane
Angioedema, hereditary, 8
A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE8 inheritance is autosomal dominant.
Medicamentos e terapias
Mecanismo: Plasma kallikrein inhibitor
Mecanismo: Bradykinin B2 receptor antagonist
Mecanismo: Coagulation factor XI inhibitor
Mecanismo: Plasma protease C1 inhibitor exogenous protein
Mecanismo: Plasma kallikrein inhibitor
Mecanismo: Plasma kallikrein inhibitor
Mecanismo: Plasminogen inhibitor
Mecanismo: Bradykinin B2 receptor antagonist
Variantes genéticas (ClinVar)
594 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 437 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
17 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 — Angioedema hereditário
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
13 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
173 ensaios clínicos encontrados, 30 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.805
Oral deucrictibant for on-demand treatment of hereditary angioedema attacks (RAPIDe-1): a randomised, double-blind, placebo-controlled, phase 2 trial.
Hereditary angioedema is a bradykinin-mediated disorder characterised by recurrent painful swelling attacks. Treatment relies on medications to prevent attacks and on-demand therapies for attack manifestations. Parenteral administration associated with most available on-demand therapies often leads to treatment being delayed or forgone. Deucrictibant is an orally bioavailable bradykinin B2 receptor antagonist under development for prophylaxis and on-demand treatment of hereditary angioedema attacks. We aimed to investigate the efficacy and safety of deucrictibant for the on-demand treatment of hereditary angioedema attacks. RAPIDe-1 was a double-blind, randomised, placebo-controlled, crossover, dose-ranging, phase 2 trial that recruited adults aged 18-75 years with hereditary angioedema type 1 or 2 from 38 sites (eg, university hospitals and accredited angioedema centres) across North America, Europe, and Israel. Participants were required to have experienced two or more attacks within the past 2 months or three or more attacks within the past 4 months before screening. An interactive response technology system randomly assigned eligible patients (1:1:1) to receive a blinded dose of oral deucrictibant (immediate-release capsule) 10 mg, 20 mg, or 30 mg during an attack-free period to assess pharmacokinetics and safety in the part 1 of the study; and, subsequently, to receive a crossover treatment sequence of two administrations of the same deucrictibant dose (10 mg, 20 mg, or 30 mg) and one of placebo to treat three investigator-confirmed angioedema attacks in the part 2. Randomisation was stratified by whether the participant was willing to participate in full pharmacokinetic sampling. Participants, investigators, site personnel, and the sponsor were masked to treatment assignment and capsules of deucrictibant and placebo were identical. For each attack, patients self-administered the oral study drug within 3 h after at least one symptom (skin pain, skin swelling, or abdominal pain) reached a visual analog scale (VAS) individual score of 30 or more out of 100 and within 6 h from symptom onset. The primary endpoint was change in the patient-reported composite VAS-3 score measuring severity of attack manifestations from before treatment to 4 h post-treatment and assessed in the modified intention-to-treat and per-protocol populations. Safety was assessed in all patients who received any dose of study drug. RAPIDe-1 is registered with ClinicalTrials.gov (NCT04618211) and is completed. Between Feb 3, 2021, and June 23, 2022, 89 patients were screened, of whom 74 were randomly assigned between Feb 23, 2021, and July 26, 2022. For the primary analysis set, the median follow-up was 130·0 (IQR 92·5 to 212·5) days for the deucrictibant 10 mg group, 166·5 (80·0 to 275·0) days for the deucrictibant 20 mg group, and 172·0 (65·0 to 242·0) days for the deucrictibant 30 mg group. The primary efficacy analysis included 147 attacks in 62 patients, of whom 42 (68%) were female and 60 (97%) were White. Least squares mean differences of change in VAS-3 score between deucrictibant and placebo was -16·75 (95% CI -21·52 to -11·97) for 10 mg, -15·02 (-20·22 to -9·81; p<0·0001) for 20 mg, and -16·28 (-21·27 to -11·29; p<0·0001) for 30 mg. In part 1, all treatment-emergent adverse events were grades 1-2, with the most common in two or more patients being headache (two [8%] of 25) and nasopharyngitis (two [8%] of 25) in the deucrictibant 30 mg group. In part 2, no single treatment-emergent adverse event was reported by two or more patients in any treatment group. Most adverse events were considered unrelated to the study drug and there were no grade 3 or worse adverse events. Deucrictibant significantly reduced the severity of hereditary angioedema attacks compared with placebo; these results support continued investigation of antagonism of the bradykinin B2 receptor with an orally available agent as a potentially effective approach, with a safety profile similar to placebo, for on-demand treatment. Pharvaris.
Oral deucrictibant for prophylaxis of hereditary angioedema attacks (CHAPTER-1): primary analysis of a randomised, double-blind, placebo-controlled, phase 2 trial.
Hereditary angioedema is a bradykinin-mediated, rare condition characterised by recurrent and potentially life-threatening attacks of subcutaneous and submucosal swelling. Bradykinin B2 receptor antagonism is a proven mechanism for on-demand treatment of attacks, but no evidence exists on its effects when used prophylactically. Deucrictibant is an investigational orally bioavailable bradykinin B2 receptor antagonist. We aimed to evaluate the efficacy, safety, and tolerability of two dose regimens of oral deucrictibant administered as prophylaxis against hereditary angioedema attacks. CHAPTER-1 was a multicentre, double-blind, placebo-controlled, randomised, phase 2 trial conducted in two parts, a double-blind placebo controlled first part and an open-label second part, with only part 1 reported here. Part 1 recruited adults (aged 18-75 years) with hereditary angioedema type 1 or 2 from 37 sites (university hospitals and accredited angioedema centres) across North America, Europe, and Israel. Patients required a documented history of three or more attacks within the last 3 consecutive months before screening or two or more during the screening period (up to 8 weeks) to be eligible. An interactive response technology system randomised eligible patients 1:1:1 to receive oral deucrictibant 20 mg daily, 40 mg daily, or matching placebo for 12 weeks. Randomisation to treatment groups was stratified by the baseline attack rate. Patients, investigators, site personnel, and the sponsor were blinded to treatment assignment. Masking was achieved with identically appearing deucrictibant and placebo capsules. The primary endpoint was the time-normalised number of investigator-confirmed attacks per 4 weeks (monthly attack rate) from weeks 1 to 12 and was assessed using the intention-to-treat set. The endpoint was analysed by comparing each deucrictibant group with the placebo group using a Poisson generalised linear model with a log link function and Pearson's χ2 scaling of SEs to account for potential dispersion. The safety analysis set included all patients who were randomly assigned and who received one or more doses of study drug (deucrictibant or placebo). CHAPTER-1 is registered with ClinicalTrials.gov (NCT05047185) and is now complete. Between March 9, 2022, and June 19, 2023, 44 patients were screened. Of 34 patients who were randomly assigned, 11 patients received deucrictibant 20 mg, 12 patients received deucrictibant 40 mg, and 11 patients received the placebo, with a median follow-up of 85·0 days (IQR 84·0-86·0). 21 (62%) patients were female, 13 (38%) were male, and 34 (100%) patients were White. The least squares mean monthly attack rate (primary analysis) was 0·40 (95% CI 0·18-0·92) for deucrictibant 20 mg, 0·30 (0·11-0·81) for deucrictibant 40 mg, and 1·93 (1·30-2·88) for placebo; percent reduction in attack rate compared with placebo was 79·2% (95% CI 47·2-91·8) for deucrictibant 20 mg (p=0·0010) and 84·5% (95% CI 53·8-94·8) for deucrictibant 40 mg (p=0·0008). Treatment-related treatment-emergent adverse events were experienced by two (18%) patients receiving deucrictibant 20 mg, one (8%) patient receiving deucrictibant 40 mg, and one (9%) patient receiving the placebo; all were mild in severity (grade 1) and did not require dosing modification of the study drug. There were no serious adverse events or deaths in any treatment group. To the best of our knowledge, this trial provides the first clinical evidence and proof-of-concept for bradykinin B2 receptor antagonism as a therapeutic approach for the prevention of hereditary angioedema attacks and supports further investigation of oral deucrictibant for bradykinin-mediated angioedema. Pharvaris.
Characterization of a unique pathogenic variant in the SERPING1 gene of a patient with hereditary angioedema type I.
Hereditary angioedema (HAE) is a rare genetic disease characterized by sudden onset of edema involving various organs. Among the three subtypes of the disease, HAE types I and II are caused by heterozygous variants in SERPING1 gene encoding C1 inhibitor (C1INH). The pathogenicity of each variant, however, has not fully been revealed. To assess the mechanism how a SERPING1 gene-variant identified in a patient with HAE type I caused the disease. Genetic analysis was conducted for a Japanese patient with HAE type I. The consequences resulting from the SERPING1 gene-variant were analyzed at mRNA levels. Overexpression studies in cultured cells were performed to analyze behavior of the mutant C1INH proteins. Effect of a small interfering RNA specific to the mutant SERPING1-mRNA on expression of wild-type C1INH was also tested. We identified a recurrent heterozygous variant c.820 A>G (p.Ile274Val) in the patient's SERPING1 gene. While we did not find any abnormalities in C1INH with the p.Ile274Val-variant, we found that the variant c.820 A>G caused an aberrant splicing event leading to a frameshift and a premature termination codon. This truncated protein clearly showed a dominant-negative effect against the wild-type C1INH. Finally, we showed that knock-down of the mutant SERPING1-mRNA recovered expression of the wild-type C1INH. A unique pathogenic mechanism for the SERPING1 gene-variant c.820 A>G has been disclosed. Furthermore, our findings have raised the possibility that RNA interference could be a new therapeutic tool for the disease.
CRISPR in Medicine: A Systematic Review of Clinical Trials and Therapeutic Applications.
Clustered Regularly Interspaced Short Palindromic Repeats-CRISPR associated protein 9 (CRISPR/Cas9) technology has become a revolutionary tool in medicine, offering substantial potential for treating a wide range of diseases, including hematological disorders, cancers, genetic conditions, and ophthalmological diseases. This systematic review evaluates the efficacy, safety, and applicability of CRISPR/Cas9 in clinical trials. A comprehensive search of the PubMed, Scopus, Web of Science, and Cochrane databases was conducted. All studies, up to November 2024, meeting the eligibility criteria assessing the application of CRISPR for the treatment of diseases were included. A quality assessment of the included studies was conducted using the Cochrane risk of bias tool. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 statement for systematic reviews and meta-analyses was followed, and a total of 17 studies were included. This systematic review of CRISPR/Cas9 technology focused on its effectiveness and safety across various diseases. In nonmalignant hematological disorders, CRISPR successfully treated β-thalassemia and sickle cell disease, resulting in high transfusion independence and the elimination of disease crises. In malignant hematological disorders, B-cell acute lymphoblastic leukemia, CRISPR-engineered chimeric antigen receptor T (CAR-T) cells achieved an 83.3% complete remission rate. Furthermore, CRISPR-based CAR-T cells showed promising results in B-cell non-Hodgkin's lymphoma. In oncology, lung cancer and other solid tumors are among the diseases that have been safely engineered using CRISPR gene editing technology. For genetic disorders, CRISPR improved vision in retinal degeneration and reduced symptoms in hereditary angioedema and transthyretin amyloidosis with mild side effects. The results demonstrated CRISPR's potential across a wide range of conditions. In conclusion, the findings underscore the potential role of CRISPR/Cas9 technology across a wide range of diseases. However, challenges remain, including optimizing delivery systems, minimizing off-target effects, addressing immunogenicity concerns, and ethical considerations.
Elevated serum zonulin is associated with high attack frequency in hereditary angioedema: providing insight into the gut-angioedema axis.
Zonulin is a key regulator of epithelial barrier permeability and has been implicated in barrier dysfunction across various inflammatory conditions. To elucidate the potential role of intestinal permeability in HAE, this study investigated serum zonulin levels and evaluated their association with disease activity and psychiatric status. The study included 28 patients with HAE type 1 (HAE-C1INH) and 30 age- and sex-matched healthy controls. Serum zonulin levels were measured by ELISA. Patients were stratified according to attack frequency (high: ≥2 vs. low: <2 attacks/month). Psychiatric status was assessed using the Hospital Anxiety and Depression Scale (HADS). Multivariable linear regression analysis was performed to evaluate the association between zonulin levels and attack frequency after adjustment for body mass index (BMI). Overall serum zonulin levels did not differ significantly between patients with HAE and healthy controls (p = 0.06). However, stratified analyses revealed that patients with high attack frequency exhibited significantly higher zonulin levels compared with both low-attack-frequency patients and controls (p < 0.01), whereas zonulin levels in the low-attack-frequency group were comparable to controls. In multivariable analysis, attack frequency remained independently associated with serum zonulin levels after adjustment for BMI. Although zonulin levels were higher among patients with clinically significant anxiety and/or depressive symptoms based on HADS, this association was weaker than that observed for attack frequency. This pilot study provides preliminary evidence that elevated serum zonulin levels in HAE are associated with higher attack burden, rather than representing a uniform feature of the disease. These findings suggest that zonulin elevation reflects inflammatory activity independent of psychiatric symptom burden and position intestinal barrier integrity as a relevant mechanistic component within the proposed Gut-Angioedema Axis. Future prospective studies are warranted to validate these findings. Not applicable.
Publicações recentes
Factor XII in Thrombosis and Thromboinflammation: From Molecular Biology to Clinical Translation.
Workplace and Healthcare Stigma in Hereditary Angioedema: Links to Anxiety and Functional Impairment.
'What' and 'How' to Measure in Allergy and Clinical Immunology: A Systematic Review of Core Outcome Sets and Outcome Harmonisation Processes.
Skeletal and dentoalveolar effects on the midpalatal suture and maxillary arch assessed by occlusal radiographs and three-dimensional digital models in patients treated with invisalign palatal expander and rapid palatal expander: a pilot study.
If It Is Not Immunoglobulin E-Mediated Allergy, What Is It?
📚 EuropePMC2.405 artigos no totalmostrando 194
Oral deucrictibant for on-demand treatment of hereditary angioedema attacks (RAPIDe-1): a randomised, double-blind, placebo-controlled, phase 2 trial.
The Lancet. HaematologyOral deucrictibant for prophylaxis of hereditary angioedema attacks (CHAPTER-1): primary analysis of a randomised, double-blind, placebo-controlled, phase 2 trial.
The Lancet. HaematologyAdvances in hereditary angioedema in the modern treatment era in China: a focus on diagnosis, treatment, and prognosis.
Orphanet journal of rare diseasesUnearthing Hereditary Angioedema in India-Epidemiology From Chandigarh and Reasi, India.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical ImmunologyBehavioural withdrawal during an acute stress test as a marker of psychobiological vulnerability in hereditary angioedema.
Frontiers in immunologyCharacterization of a unique pathogenic variant in the SERPING1 gene of a patient with hereditary angioedema type I.
Journal of dermatological scienceN‑Alkyl and N‑Aryl Aminopyrazole Spirocarbamates: A Two-Pronged Lead Optimization Strategy to Identify Orally Bioavailable Plasma Kallikrein Inhibitors.
ACS medicinal chemistry lettersReal-world quality of life in patients with hereditary angioedema receiving lanadelumab or other long-term prophylaxis.
Allergy and asthma proceedings[Clinical pathway to identify high-risk patients with hereditary angioedema based on abdominal pain symptoms].
Zhonghua nei ke za zhiAesthetic Interventions in Patients with Allergic Skin Diseases: Risk Assessment and Evidence-Based Preventive Risk Management.
Clinics in dermatologyMast cell mediators in hereditary angioedema.
Orphanet journal of rare diseasesSwitching Long-Term Prophylaxis to Donidalorsen for Hereditary Angioedema: 1-Year OASISplus Results.
AllergyEpidemiological and clinical characteristics of hereditary angioedema in the Baltic states.
Frontiers in immunologyLanadelumab's Enduring Effectiveness and Safety in the Management of Hereditary Angioedema for Patients from Puerto Rico: Data from EMPOWER.
International archives of allergy and immunologyPrevalence, clinical characteristics and the burden of disease of the Croatian adult patients with HAE: nationwide survey analysis.
European annals of allergy and clinical immunologyGlobal research trends in hereditary angioedema, 1972-2023: Bibliometric analysis of productivity, collaboration, and thematic evolution.
The World Allergy Organization journalInvestigation of sexual life and sleep quality in patients with hereditary angioedema.
Allergologia et immunopathologiaCRISPR in Medicine: A Systematic Review of Clinical Trials and Therapeutic Applications.
Human gene therapyCompletion of the Icatibant Outcome Survey and What We Learned.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical ImmunologySummarizing the 2024 immunotherapy manual of the Canadian society of allergy and clinical immunology.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologyDonidalorsen for hereditary angioedema: Long-term results from a 4-year phase 2 open-label extension study.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyFostering equity in precision health through diverse 3D facial data.
Frontiers in medical technologyAn Open-Label Phase 1b/2 Trial of Navenibart, a Long-Acting Plasma Kallikrein Inhibitor for Hereditary Angioedema.
The Journal of allergy and clinical immunologyAchieving a normal life in hereditary angioedema: Quality of life and treatment gaps among German HAE patients.
Allergologie selectImpact of Oral Sebetralstat on Anxiety Associated With Hereditary Angioedema Attacks.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical ImmunologyAssociation of muscle instability and long-term prophylaxis in hereditary angioedema.
The World Allergy Organization journalEosinophilic inflammation in hereditary angioedema: a single-center real-world retrospective chart review study.
Frontiers in immunologyAn International Delphi Study on Barriers to On-Demand Treatment of Hereditary Angioedema Attacks.
Clinical and translational allergyChallenges in managing recurrent luminal A breast cancer: a case study.
EcancermedicalscienceDiagnosis and Management of Pediatric and Adolescent Hereditary Angioedema: A clinical yardstick.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyAssessing Patient-Reported Outcomes in Acute Attacks of Hereditary Angioedema: Insights from a Mixed Methods Study of Participants Receiving Standard-of-Care Treatments in a Real-World Setting.
Clinical reviews in allergy & immunologyDonidalorsen for Long-Term Prophylaxis of Hereditary Angioedema Attacks: Results from the OASISplus Open-Label Extension Cohort at Year 1.
Journal of asthma and allergyA Treat-to-Target approach in hereditary angioedema: expert consensus from a European committee.
Frontiers in immunology2025 FDA TIDES (Peptides and Oligonucleotides) Harvest.
Pharmaceuticals (Basel, Switzerland)Elevated serum zonulin is associated with high attack frequency in hereditary angioedema: providing insight into the gut-angioedema axis.
Orphanet journal of rare diseasesManagement of pregnancy, delivery and breast-feeding in hereditary angioedema: an analysis of 15 pregnancies with conventional treatment approaches and a case of Lanadelumab use.
Orphanet journal of rare diseasesBurden of disease in adult patients with hereditary angioedema: results from a multinational survey.
Orphanet journal of rare diseasesRethinking the management of hereditary angioedema.
Allergy and asthma proceedingsUpdates in Hereditary Angioedema and Chronic Spontaneous Urticaria.
The Journal of allergy and clinical immunologyBurden of hereditary angioedema: results from a multinational survey of caregivers for adult and pediatric patients.
Orphanet journal of rare diseasesIs hereditary angioedema associated with deficits in emotion regulation? A quantitative study in adult patients.
Orphanet journal of rare diseases"Emerging role of plasma kallikrein inhibitors in preventing hereditary angioedema flares in pregnancy".
Annals of medicine and surgery (2012)The power of a pill: Ekterly (Sebetralstat): first oral on-demand therapy for hereditary angioedema-a paradigm shift in treatment.
Annals of medicine and surgery (2012)Clinical features of hereditary angioedema involving the gastrointestinal tract: A retrospective analysis.
The World Allergy Organization journalNovel SERPING1 Genetic Variant in Two Family Members with Hereditary Angioedema.
Acta medica portuguesaDeveloping a patient journey map to improve care and experience in Chinese patients with hereditary angioedema.
The World Allergy Organization journalUpdates on the Current and Evolving Treatment for Hereditary Angioedema.
The journal of allergy and clinical immunology. In practiceSebetralstat (Ekterly) for treatment of hereditary angioedema attacks.
The Medical letter on drugs and therapeuticsThe patient experience of hereditary angioedema: findings from a racially diverse sample of adult patients.
Orphanet journal of rare diseasesRecent advances in factor XII(a) inhibitors: an updated patent landscape (2020-present).
Expert opinion on therapeutic patentsAlgorithms in Allergy: Hereditary Angioedema.
AllergyPopulation Pharmacokinetic/Pharmacodynamic Modeling of Donidalorsen, an Antisense Oligonucleotide in Development for Prophylaxis of Hereditary Angioedema.
CPT: pharmacometrics & systems pharmacologyInternational Guideline on the Diagnosis and Management of Pediatric Patients With Hereditary Angioedema.
AllergyThe International/Canadian hereditary angioedema guideline.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologyEcological momentary assessments for patients with hereditary angioedema: a feasibility and acceptability controlled study.
Frontiers in digital healthClassification of angioedema types using decision tree modeling.
Frontiers in immunologyComparison of Clinical Characteristics Between Hereditary Angioedema Patients Aged 65 Years and Older and Those Under 65: A Perspective on Elderly Patients.
Life (Basel, Switzerland)Perioperative Hereditary Angioedema Triggered by Laryngeal Mask Airway: A Case Report and Anesthetic Implications.
CureusAttack rate reductions following berotralstat initiation among US patients with hereditary angioedema in the real-world.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologyPain management in patients with hereditary angioedema: A case report.
MedicineFunctional physiological, psychological, and biochemical reactivity to socially evaluated cold pressor test in hereditary angioedema patients (FRoSEn).
Frontiers in immunologyLong-term effectiveness and safety of lanadelumab in Canadian patients with hereditary angioedema: a subanalysis of the EMPOWER study.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologyPatient Preferences for Long-Term Prophylactic Treatment in Hereditary Angioedema: A Discrete-Choice Experiment.
The patientType II hereditary angioedema with an apparently de novo SERPING1 mutation in China: A case report and family screening.
MedicineHuman Plasma-Derived C1 Inhibitor for Short-Term Prophylaxis in Hereditary Angioedema With Normal C1 Inhibitor.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical ImmunologyExpanding the Diagnostic Lens: Mast Cell Activation Syndromes and the Hidden Spectrum of Angioedema Associated Mortality in COVID-19.
Academic forensic pathologyEfficacy and acceptability of lanadelumab for long-term prophylaxis in hereditary angioedema: A Chinese multicenter real-world analysis.
The World Allergy Organization journalNon-peptide bradykinin B2 receptor ligands possessing the substituted quinolinyl moiety: Pharmacological properties and prospective clinical uses.
PeptidesPatient-reported disease burden and health care utilization of HAE-nl-C1INH: insights from a real-world survey.
Clinical and experimental medicineAssociation Between the Angioedema Control Test and Attack Frequency in Hereditary Angioedema.
Clinical and translational allergyBradykinin reduces wound healing in human umbilical vein endothelial cells via downregulation of vascular endothelial growth factor A.
Journal of inflammation (London, England)Lanadelumab in Hereditary Angioedema: Real-World Outcomes and Implications for Access Practices in Europe.
Journal of clinical medicineDonidalorsen (Dawnzera) for prevention of hereditary angioedema attacks.
The Medical letter on drugs and therapeuticsA Comprehensive Assessment of Health-Related Quality of Life in Hereditary Angioedema as a Patient-Centered Approach.
International archives of allergy and immunologyGaradacimab-gxii-A Novel Prophylactic Treatment for Hereditary Angioedema: A Drug Review.
The Annals of pharmacotherapyNovel drug approval by the FDA: Ekterly (Sebetralstat), oral plasma kallikrein inhibitor for treating acute attacks of hereditary angioedema.
Annals of medicine and surgery (2012)Physiological evaluation of the emotional regulation of patients with hereditary angioedema.
BioPsychoSocial medicineNon-injectable versus injectable epinephrine treatment thresholds for acute allergic reactions in the community.
The journal of allergy and clinical immunology. In practiceCardiac and vascular autonomic control in patients with hereditary angioedema.
Frontiers in physiologyCorrigendum to 'Hereditary angioedema-induced laryngeal edema: A diagnostic and therapeutic race against time' [American Journal of Emergency Medicine 93 (2025) 238.e5-238.e8].
The American journal of emergency medicineLong-term prophylactic treatment preferences and willingness to switch therapy in individuals with hereditary angioedema.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyTherapeutic Potential of C1-Inhibitor in Vascular Diseases and Beyond.
Arteriosclerosis, thrombosis, and vascular biologyTreatment of Hereditary Angioedema With Plasma-Derived C1 Inhibitor: A Review.
Clinical and translational allergyFrom guidelines to global impact: updates to address disparities in hereditary angioedema care.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologyEpinephrine and emergency medical services activation recommendations during acute allergic reactions in community settings: International consensus report.
The Journal of allergy and clinical immunologySAFE-CGRP study: multicenter retrospective evaluation of the safety of CGRP pathway-targeting monoclonal antibodies in migraine with relevant comorbidities or conditions excluded from trials.
Frontiers in neurologySebetralstat: a paradigm shift in hereditary angioedema management.
Annals of medicine and surgery (2012)CRISPR-Cas9 gene editing for hereditary angioedema: current treatments and emerging therapies.
Annals of medicine and surgery (2012)Health-related quality of life in hereditary angioedema patients treated with subcutaneous C1 inhibitor (C1-INH) therapy in Canada.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologyUrgent diagnosis of hereditary angioedema in the ICU and ED: the critical role of rapid complement testing - a case report.
International journal of emergency medicineLong-term Prophylaxis With Lanadelumab in Patients With Angioedema Due to C1 Inhibitor Deficiency: A Real-life Study in Spain.
Journal of investigational allergology & clinical immunologyManagement of hereditary angioedema with normal C1Inh: a series of 163 French patients.
Orphanet journal of rare diseasesHereditary angioedema: A national investigation of associated comorbidities and surgical procedures.
The World Allergy Organization journalA sensitive and specific assay to characterize plasma kallikrein activity in plasma from patients with hereditary angioedema.
The World Allergy Organization journalImpact of injectable HAE on-demand treatments on health-related quality of life: a patient and caregiver interview study.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologyImplementation of genetic diagnosis and personalized management of hereditary angioedema in a Chinese regional center: a community case study of three families.
Frontiers in allergyHereditary Angioedema Prophylaxis Therapy: Berotralstat and Lanadelumab Safety Profile.
Medicina (Kaunas, Lithuania)On-demand treatment of hereditary angioedema attacks: Patient-reported utilization, barriers, and outcome.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyBerotralstat, the first oral prophylaxis for hereditary angioedema in children aged 2 to 12 years: The kids are alright!
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyAbdominal Pain Attacks and Angioedema in a Patient With a Homozygous MEFV Mutation: Concurrent FXII Hereditary Angioedema.
Journal of investigational allergology & clinical immunologySebetralstat for On-Demand Treatment of Mucosal Hereditary Angioedema Attacks in KONFIDENT-S.
Clinical and translational allergyRefractory Antiphospholipid Syndrome With Thoracic Outlet and Superior Vena Cava Syndromes: A Complex Case of Recurrent Thrombosis.
CureusHereditary angioedema as a cause of recurrent abdominal pain in a pediatric patient with Crohn's disease.
JPGN reportsLong-Term Attenuation of Vascular Hyperpermeability in a Hereditary Angioedema Mouse Model by Adenine Base Editing.
AllergyCommon features of rare disease patients in the emergency department: a systematised literature review.
Orphanet journal of rare diseasesClinical and genetic study in factor XII hereditary angioedema in a population from Southern Spain.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyDonidalorsen: First Approval.
DrugsA Multicentric Clinical Study to Evaluate Pharmacokinetics, Efficacy, and Safety of Immune Globulin Subcutaneous 20% Weekly/Biweekly Dosing in Treatment-Experienced Patients and Loading/Weekly Maintenance Dosing in Treatment-Naïve Patients with Primary Immunodeficiency.
Journal of clinical immunologyDelphi Consensus on Attenuated Androgen Use for Long-Term Prophylaxis in Hereditary Angioedema: AURA Project.
Clinical and translational allergyExposure-Response Analysis of Donidalorsen for the Treatment of Hereditary Angioedema.
Clinical and translational scienceUnexpected genomic architecture in a sporadic case of C1-INH Hereditary Angioedema: the hidden heritability.
Orphanet journal of rare diseasesSebetralstat: FDA approves first oral on-demand therapy for hereditary angioedema.
Irish journal of medical scienceGaradacimab (Andembry) for hereditary angioedema prophylaxis.
The Medical letter on drugs and therapeuticsSpinal Anesthesia With Short-Term Prophylaxis in a Patient With Hereditary Angioedema: A Case Report.
CureusC1 esterase inhibitor (C1-INH) response as a supportive diagnostic criterion for patients with suspected hereditary angioedema with normal C1-INH.
The World Allergy Organization journalHereditary Angioedema With Normal C1 Esterase Inhibitor: A Case of a Late Diagnosis in a 48-Year-Old Male.
CureusSelf-administered oral sebetralstat: a game-changer in treatment of hereditary angioedema.
Annals of medicine and surgery (2012)Berotralstat effectiveness and safety in patients with hereditary angioedema with normal C1 inhibitor.
The journal of allergy and clinical immunology. GlobalLeveraging lanadelumab: A phase 4 evaluation of hereditary angioedema by attack rate subgroups.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyTransient hepatitis as a novel withdrawal phenomenon after danazol discontinuation in hereditary angioedema.
The journal of allergy and clinical immunology. In practiceUnveiling the impact of hereditary angioedema: a study on quality of life in Brazilian adults.
Anais da Academia Brasileira de CienciasFrench protocol for the diagnosis and management of hereditary angioedema.
La Revue de medecine interneAn Unusual Gastrointestinal Presentation of Sjogren's Syndrome: A Case Report.
Clinical case reportsIcatibant Use During Pregnancy: A South African Case Series.
Journal of investigational allergology & clinical immunologyRemibrutinib in chronic spontaneous urticaria: 52-week results from two phase 3 studies.
The Journal of allergy and clinical immunologyUnraveling angioedema: diagnostic challenges and emerging therapies.
Frontiers in immunologyC1 Esterase Inhibitor Deficiency in an Indian Female: A Rare Case Report and a Review of Literature with Treatment Update.
Current drug targetsNational Audit of Long-Term Real-World Outcomes of Berotralstat Use in UK Patients With Hereditary Angioedema.
AllergyMisdiagnosed Hereditary Angioedema with Recurrent Abdominal Pain: A Novel SERPING1 Frameshift Variant.
Journal of asthma and allergyReal-World Evidence on the Management of Hereditary Angioedema With Normal C1 Inhibitor.
The journal of allergy and clinical immunology. In practiceTherapeutic Advances in Hereditary Angioedema: A Focus on Present and Future Options.
Advances in therapyAbsolute Configuration of Key Intermediates and the Gram Scale Synthesis of Berotralstat and ent-Berotralstat.
The Journal of organic chemistryBarriers and promoters to adapting research findings to clinical care in hereditary angioedema in the United States: A qualitative study.
PloS oneImproving the standards of medical case reports; insights from a hereditary angioedema example.
Journal of family medicine and primary careMeasurement of cleaved high-molecular-weight kininogen in patients with hereditary angioedema due to C1-inhibitor deficiency: preanalytical and analytical optimization.
Journal of immunological methods[Acquired angioedema associated with non-Hodgkin lymphoma: a clinical case report].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)[Economic Burden of Hereditary Angioedema from the Perspective of the Public Health System in Mexico].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)[Drug addiction and hereditary angioedema type 1, a dangerous combination].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)[Effectiveness and safety of Lanadelumab according to disease activity: pooled analysis of EMPOWER/ENABLE].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)Plasma Kallikrein Inhibitors for Multiple Disorders: Current Advances and Perspectives.
Journal of medicinal chemistryObservations on quality of life and disease control in patients with hereditary angioedema.
Skin health and diseaseFirst report from the Czech national registry of inborn errors of immunity (2012-2025).
Frontiers in immunologyPopulation-scale analysis reveals inherited C1-inhibitor deficiency is a polyphenotypic thrombotic disorder.
Blood advancesPerinatal Management and Clinical Outcomes of Hereditary Angioedema in Japan: A Case Series and Comprehensive Literature Review.
The Journal of dermatologySebetralstat: First Approval.
DrugsPediatric angioedema without urticaria: A rare presentation of autoimmune thyroid disease with complete remission on levothyroxine therapy.
Journal of postgraduate medicineAnaesthesia Management of a Case with Hereditary Angioedema for Whom Tracheal Dilatation was Planned.
Turkish journal of anaesthesiology and reanimationQuality of life and burden of disease in patients with hereditary angioedema and their caregivers.
Allergy and asthma proceedingsReal-world treatment patterns and burden-of-disease of sub-optimally controlled hereditary angioedema.
The World Allergy Organization journalEvaluating functional C1INH with multiple laboratory methods across Hereditary Angioedema types.
Frontiers in immunologyFDA approves anti-prekallikrein drug for hereditary angioedema.
Nature reviews. Drug discoveryOne-year real-life outcomes of lanadelumab therapy in Romanian patients with hereditary angioedema due to C1-inhibitor deficiency.
Frontiers in allergyA Phase 1 Randomized Study: Garadacimab Pharmacokinetics, Safety, and Tolerability After Administration via Autoinjector/Pre-Filled Pen Versus Pre-Filled Syringe in Healthy Participants.
Journal of clinical pharmacologyInsights From the First 820 Patients From the Brazilian Multicenter Registry of Hereditary Angioedema: The Key Role of Genetic Testing and Targeted Therapies.
The journal of allergy and clinical immunology. In practiceC1 inhibitor: from complement system to bradykinin angioedema.
Current opinion in immunologyStatus quo and future developments in the diagnosis and treatment of hereditary angioedema.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGThree-year real-world outcomes of lanadelumab prophylaxis in hereditary angioedema: Complete disease suppression and psychosocial benefits in two East Asian patients.
Intractable & rare diseases researchRevealing hidden patterns in hereditary angioedema: Insights beyond claims data.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyCOVID-19-Induced Flare of Hereditary Angioedema in a Twelve-Year-Old Female Patient.
CureusLong-Term Safety and Effectiveness of Sebetralstat: Interim Analysis of KONFIDENT-S Open-label Extension.
The journal of allergy and clinical immunology. In practiceLong-term prophylactic treatment with deucrictibant for angioedema due to acquired C1-inhibitor deficiency.
The Journal of allergy and clinical immunologyBradykinin-Mediated Angioedema Induced by Drugs.
Journal of clinical medicineGaradacimab in hereditary angioedema due to normal C1INH with F12/PLG mutations.
The Journal of allergy and clinical immunologyExpanding the Genetic and Clinical Spectrum of Hereditary Angioedema with Normal C1 Inhibitor: Novel Variants and Treatment Insights.
Journal of clinical immunologyA single-centre retrospective study on the clinical characteristics of patients with hereditary angioedema and the therapeutic effect of lanadelumab.
Orphanet journal of rare diseasesImpact of providing education on the recognition and differential diagnosis of angioedema among emergency department physicians.
The World Allergy Organization journalFamily Testing Reveals Asymptomatic Carriers in a Case of Long-Undiagnosed Type 1 Hereditary Angioedema.
The Journal of dermatologyRecurrent angioedema manifestation and treatment response in two patients from different families caring the myoferlin gene mutation: case series.
Orphanet journal of rare diseasesA Rare Case of Idiopathic Angioedema Associated With Amlodipine Use.
CureusLanadelumab's impact on hereditary angioedema control and quality of life across disease activity subgroups: Real-world evidence.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyDisease control and disease activity in hereditary angioedema: two sides of the same coin?
Frontiers in immunologyImpact of hereditary angioedema attacks on health-related quality of life and work productivity.
The World Allergy Organization journalClinical presentation and management of 239 children and adolescents with hereditary angioedema.
The journal of allergy and clinical immunology. In practiceUnmet needs in hereditary angioedema: an international survey of physicians.
Orphanet journal of rare diseasesProactive identification of rare diseases: lessons from hereditary angioedema diagnosis using electronic medical records.
Orphanet journal of rare diseasesOral berotralstat for hereditary angioedema prophylaxis in patients aged 2 to <12 years: APeX-P interim results.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyExercise-Induced Angioedema, Urticaria, and Anaphylaxis-A Narrative Review.
Sports (Basel, Switzerland)Characteristics and Comorbidities Influencing Mortality Risk Among Hereditary Angioedema Patients.
Journal of health economics and outcomes researchActivation of the Complement/Lectin Pathway, Angiopoietin/Tie-2/VEGF-System, Cytokines and Chemokines in Different Angioedema Subtypes.
European journal of immunologyEvaluating large language models for WAO/EAACI guideline compliance in hereditary angioedema management.
Allergologia et immunopathologiaBradykinin measurement by liquid chromatography tandem mass spectrometry in subjects with hereditary angioedema enhanced by cold activation.
The journal of allergy and clinical immunology. GlobalLong-Term Real-World Outcomes in Patients with Hereditary Angioedema Receiving Lanadelumab for 3 or More Years.
International archives of allergy and immunologyDonidalorsen Treatment of Hereditary Angioedema in Patients Previously on Long-Term Prophylaxis.
The journal of allergy and clinical immunology. In practiceCase reports of subcutaneous pdC1INH in pregnancy and lactation: expanding treatment options for hereditary angioedema in Portugal.
Frontiers in allergyDelays and Barriers Related to the Treatment of Hereditary Angioedema Attacks in Italy.
AllergyTreatment Patterns and Characteristics of Patients with Hereditary Angioedema Treated with Lanadelumab: A US Retrospective Chart Review.
Drugs - real world outcomesEffect of Fresh Frozen Plasma Infusion on Hospital Length of Stay for Patients With Hereditary Angioedema.
Journal of health economics and outcomes researchALERT (ChAracterizing uncontroLled sevERe asThma in Canada): Oral corticosteroid and short-acting β2-agonist overuse.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyMatching-adjusted indirect comparison between garadacimab and lanadelumab for the long-term prophylactic treatment of patients with hereditary angioedema.
Journal of comparative effectiveness researchA Rare Case of Valsartan-Induced Angioedema.
Cureus[Pharmacological characteristics and clinical trial results of garadacimab (anti-activated factor XII monoclonal antibody) for long-term prophylaxis of hereditary angioedema].
Nihon yakurigaku zasshi. Folia pharmacologica JaponicaHereditary Angioedema Characterized by Laryngeal Obstruction.
The journal of allergy and clinical immunology. In practiceHereditary angioedema in a paediatric patient presenting with abdominal pain and duodenal dilation.
BMJ case reportsConsensus on diagnosis and management of hereditary angioedema in Greece.
European annals of allergy and clinical immunologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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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.
- Oral deucrictibant for on-demand treatment of hereditary angioedema attacks (RAPIDe-1): a randomised, double-blind, placebo-controlled, phase 2 trial.
- Oral deucrictibant for prophylaxis of hereditary angioedema attacks (CHAPTER-1): primary analysis of a randomised, double-blind, placebo-controlled, phase 2 trial.
- Characterization of a unique pathogenic variant in the SERPING1 gene of a patient with hereditary angioedema type I.
- CRISPR in Medicine: A Systematic Review of Clinical Trials and Therapeutic Applications.
- Elevated serum zonulin is associated with high attack frequency in hereditary angioedema: providing insight into the gut-angioedema axis.
- Factor XII in Thrombosis and Thromboinflammation: From Molecular Biology to Clinical Translation.
- Workplace and Healthcare Stigma in Hereditary Angioedema: Links to Anxiety and Functional Impairment.
- 'What' and 'How' to Measure in Allergy and Clinical Immunology: A Systematic Review of Core Outcome Sets and Outcome Harmonisation Processes.
- Skeletal and dentoalveolar effects on the midpalatal suture and maxillary arch assessed by occlusal radiographs and three-dimensional digital models in patients treated with invisalign palatal expander and rapid palatal expander: a pilot study.
- If It Is Not Immunoglobulin E-Mediated Allergy, What Is It?
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:91378(Orphanet)
- MONDO:0019623(MONDO)
- Angioedema Hereditario(PCDT · Ministério da Saúde)
- GARD:5979(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q2096745(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
