In addition to a wide range of case reports, reviews, and small case series, here are summaries of recently published HAE-related scientific papers. Data search was undertaken on 23 June 2025.
Global frequency, diagnosis, and treatment of hereditary angioedema with normal C1 inhibitor
Markus Magerl, et al
A global group of authors sought to find out more about the prevalence of HAE with normal C1-inhibitor (HAE-nC1INH) and its current treatment. They conclude that HAE-nC1INH may be more prevalent than previously reported. Additionally, they indicate that there are differences in the way the disease is diagnosed and treated. They call for more clinical trials to identify biomarkers and treatments.
(Journal of Allergy and Clinical Immunology, August 2025)
Hereditary angioedema and venous thromboembolism: Where there’s smoke, there’s fire
Steven P Grover
The author reviews the growing body of evidence that there are links between HAE and increased risks of blood clots in the blood vessels (venous thromboembolism). He discusses the potential impact of disease-modifying treatment for HAE on blood clotting.
(Seminars in Thrombosis and Hemostasis, April 2025)
Adherence and persistence among patients with hereditary angioedema receiving long-term prophylaxis in the United States
Bruce L Zuraw, et al
The authors set out to assess how well patients followed an agreed course of treatment (adherence), and how long they used their medication continuously (persistence). They did this by following up with HAE patients based on their electronic health records. They found that the rates of adherence and persistence were uniformly high for all three long-term prophylaxis treatments evaluated.
(Allergy and Asthma Proceedings, May 2025)
Population pharmacokinetic/pharmacodynamic and exposure-response modeling of garadacimab in healthy volunteers and patients with hereditary angioedema
Ramon Garcia, et al
The authors wanted to identify how the human body responds to a particular dose of garadacimab (200mg, once a month). The findings, the authors suggest, support the use of garadacimab 200mg once-monthly in patients 12 years or over, with no need for dose adjustments. They also indicate that an initial higher dose may provide the onset of protection from week one.
(CPT: Pharmacometrics & Systems Pharmacology, May 2025)
Expert consensus on the diagnosis and treatment of hereditary angioedema in China (2024 edition)
Yingyan Xu, et al
The authors updated the previous consensus on how HAE should be diagnosed and treated in China. The authors included specialists in allergy, dermatology, and emergency medicine, amongst others. They conclude that, as this is the first time the guidance has been updated since 2019, it standardizes HAE management across China. It emphasizes early diagnosis to prevent life-threatening attacks and recommends individualized treatment strategies tailored to China’s therapeutic landscape.
(International Archives of Allergy and Immunology, 10 April 2025)
Comparison of real-world healthcare resource utilization and costs among patients with hereditary angioedema on lanadelumab or berotralstat long-term prophylaxis
Nicole Princic, et al
The authors conducted a health economic assessment to compare the costs of HAE treatment with berotralstat and lanadelumab with the expenditure on healthcare resources (such as hospital visits). The authors concluded that HAE patients treated with lanadelumab may require less care and incur lower treatment and healthcare-related costs than those treated with berotralstat.
(Journal of Comparative Effectiveness Research, April 2025)
Hereditary angioedema diagnosis evaluation score (HADES): A new clinical scoring system for predicting hereditary angioedema with C1 inhibitor deficiency
Ricardo Zweiner, et al
The authors developed a predictive scoring system in order to improve the diagnosis of HAE patients. This study looked at the effectiveness of this scoring system in practice. The authors conclude that their HADES scoring offers a simple and efficient method for improving testing for suspicion of HAE using clinical parameters such as family history and recurrent edema lasting for 24 hours or more.
(Journal of Allergy and Clinical Immunology: Global, Jan 2025)
Th2 predominance and decreased NK cells in patients with hereditary angioedema
Linda Sundler Björkman, et al.
The authors studied specific cells in the blood of people with HAE to identify if they were elevated compared to healthy people, and if this indicated a higher risk of autoimmune diseases such as lupus. The authors concluded that blood lymphocyte populations are altered in HAE, which may be an important consideration given the increased risks of autoimmunity and allergy associated with the condition.
(Frontiers in Immunology, May 2025)
Can depression and anxiety be predicted in hereditary angioedema? A comprehensive assessment
Hatice Serpil Akten, et al
The authors assessed the levels of depression and anxiety in patients with HAE, along with factors that influence them. They concluded that patients who experienced frequent severe attacks or recent throat attacks faced a higher risk of psychological distress.
(Allergy and Asthma Proceedings, May 2025)
Hereditary angioedema: Patient health care experiences within underrepresented racial and ethnic groups in the United States
Timothy Craig, et al
The authors wanted to better understand the experiences and perspectives of HAE care and treatment among patients from underrepresented racial and ethnic groups in the United States. After their research, the authors conclude that barriers to diagnosis and effective treatment (such as difficulties in getting their healthcare provider to consider their background when making decisions) persist among US patients from underrepresented racial and ethnic groups.
(Annals of Allergy, Asthma and Immunology, April 2025)
Long-term safety and efficacy of once-daily berotralstat in patients with hereditary angioedema: APeX-S final results
Henriette Farkas, et al
The authors aimed to assess the long-term safety and efficacy of berotralstat in patients with HAE due to C1 inhibitor deficiency. Following their research, in which HAE patients received one of two different doses of berotralstat over 96 weeks in the US and 240 weeks in other countries, the authors conclude that their study supports the long-term safety of berotralstat and its efficacy at preventing HAE attacks and improving quality of life.
(Annals of Allergy, Asthma and Immunology, June 2025)
Pharmacokinetics, pharmacodynamics, and safety of subcutaneous and intravenous garadacimab following single-dose administration in healthy Japanese and white adults
Fiona Glassman, et al
The authors investigated how the human body responds to doses of garadacimab, both in Japanese people and white participants. They conclude that there were no safety concerns or differences in the safety profile of garadacimab between healthy Japanese and white participants.
(Journal of Clinical Pharmacology, April 2025)
A national survey of four decades of hereditary angioedema prophylaxis: Efficacy and safety of old and new drugs
Hanga Réka Horváth, et al
The authors aimed to assess the use, efficacy, and safety of various long-term prophylaxis (LTP) therapies among Hungarian HAE patients. They conclude that the use of modern prophylaxis is increasing among Hungarian HAE patients. Both modern and traditional LTP options proved safe and effective in Hungarian patients when used with appropriate monitoring.
(Clinical Immunology, June 2025)
Garadacimab improves long-term health-related quality of life in patients with hereditary angioedema
Mar Guilarte, et al
The authors’ stated objective was to report on health-related quality of life data collected from a phase-3 study of the HAE medicine, garadacimab. The authors conclude that the data show treatment with garadacimab elicited clinically meaningful long-term improvements in health-related quality of life, work productivity, and treatment satisfaction in patients with HAE.
(Allergy and Asthma Proceedings, May 2025)
On-demand treatment of hereditary angioedema attacks: Patient-reported utilization, barriers and outcomes
Sandra Christiansen, et al
The authors wanted to investigate how patients with HAE approach treating attacks in the real world, especially barriers and delays to treatment, and the impact of any delays when using on-demand treatment. The authors indicate that their data shows that patients felt they treated their attacks earlier than they did. The reasons for delaying on-demand therapy included treatment-related anxiety, and these delays led to more HAE attack severity, duration, and spread to other sites.
(Annals of Allergy, Asthma and Immunology, May 2025)
Hereditary angioedema diagnosis: Reflecting on the past, envisioning the future
Anete S Grumach, et al
The authors look at the currently available tools for doctors to use in diagnosing HAE, and look at some of the new options that may aid in HAE diagnosis and support better care for people with the condition.
(World Allergy Organization Journal, May 2025)
Elevated level of circulating VEGF in Chinese patients with hereditary angioedema and its correlation with disease status
Ruoyu Ji, et al
A substance found in the human body, called VEGF, is involved in problems in the walls of blood vessels. The authors wanted to see the importance of this in people with HAE. The authors said their results showed that levels of VEGF were higher in patients with HAE during attack-free periods, suggesting the involvement of VEGF in the process that leads to HAE attacks. They feel VEGF may be a biomarker for disease monitoring in HAE.
(Orphanet Journal of Rare Diseases, May 2025)
Effective long-term prophylaxis with lanadelumab in adolescents with hereditary angioedema: EMPOWER/ENABLE
Raffi Tachdjian, et al
The authors drew together a range of data on the use of lanadelumab to prevent HAE attacks in adolescents (12 to <18 years). They conclude that their data support the effectiveness and safety of lanadelumab in adolescents with HAE.
(Pediatric Allergy and Immunology, April 2025)
Reductions in medical visits and hospitalizations following berotralstat initiation in patients with hereditary angioedema in the United States
Sandra C Christiansen, et al
The authors investigated hospital visits and hospitalizations in people with HAE before and after they started taking the HAE medication berotralstat as a long-term prophylaxis (LTP). The authors reviewed a large healthcare database over a two-year period, including 260 patients. The authors found that prophylaxis with berotralstat led to significant reductions in health resource use, regardless of the cause, including fewer HAE attack-related medical visits and use of on-demand treatment.
(Journal of Managed Care and Specialty Pharmacy, June 2025)
Content validation of the Angioedema Quality of Life Questionnaire (AE-QoL) in a population of adult and adolescent patients with hereditary angioedema (HAE)
Lynne Broderick, et al
The purpose of this study was to find out if the AE-QoL tool was a fit-for-purpose instrument in capturing the impact of HAE attacks on the health-related quality of life of people with HAE. Their research asked a small number of HAE patients to rate their experience with the tool. The authors conclude that there may need to be some revisions for use among adolescents, in general, people with HAE found it relevant, comprehensive, and comprehensible.
(Journal of Patient Reported Outcomes, April 2025)
Cascade screening of hereditary angioedema in Pakistan
Muhammed Hussain, et al
The authors aimed to establish cascade family screening of newly diagnosed HAE patients in Pakistan, in order to improve early diagnosis of asymptomatic or mildly symptomatic family members of HAE patients. The authors conclude that their work led to further diagnoses and that these will support better management for patients.
(Journal of the College of Physicians and Surgeons Pakistan, May 2025)
Recent advances in clinical research on rare and intractable hereditary skin diseases in Japan
Masashi Akiyama, et al
The authors describe their work within the Research Group for Rare and Intractable Skin Diseases in the Project for Intractable Diseases of the Ministry of Health, Labour and Welfare of Japan. They indicate that the Angioedema Activity Score and Angioedema Quality of Life Questionnaire have been established for HAE, and that information on HAE (amongst other diseases) has been shared with academic societies, medical professionals, patients, and the general public.
(Keio Journal of Medicine, March 2025)
Sustained Effectiveness, Tolerability, and Safety of Long-Term Prophylaxis with Lanadelumab in Hereditary Angioedema: The Prospective, Phase 4, Noninterventional EMPOWER Real-World Study
Jonathan A Bernstein, et al
The authors report final data from a trial of lanadelumab used as a long-term prophylaxis treatment for HAE attacks in patients 2 years and over (in the US) and 12 years and over (in Canada). They conclude, based on a study of 109 patients, that there was a marked reduction in the HAE attack rate up to three years after starting treatment with lanadelumab, with no new safety problems identified.
(Advances in Therapy, June 2025)
Becoming attack-free further improves health-related quality of life in patients with hereditary angioedema receiving garadacimb
Petra Staubach, et al
The authors demonstrated that patients treated with garadacimab who were attack-free had the greatest improvements in their health-related quality of life, bringing them closer to complete disease control and a normal life.
(Allergy and Asthma Proceedings, May 2025)
Hereditary angioedema plasma proteomics following specific plasma kallikrein inhibition with lanadelumab
Dan Sexton, et al
The authors looked at the biological consequences of specific plasma kallikrein inhibition with lanadelumab. They looked at the levels of certain proteins found in the blood of people with HAE after they had taken lanadelumab. The authors conclude that their analyses confirmed the known biomarkers for HAE and identified potential new options for further investigation.
(Frontiers of Immunology, May 2025)
From anxiety to work productivity and activity impairment: The mediating role of fatigue in hereditary angioedema
Hugo WF Mak, et al
The authors looked at the impact of fatigue on the lives of people with HAE, and suggest that it is associated with anxiety, work productivity, and the inability to do activities. The authors believe that addressing the unmet need around fatigue would benefit patients’ quality of life.
(Clinical and Experimental Allergy, June 2025)
Prediction of hereditary angioedema during attacks in patients with recurrent angioedema: Awareness at a glance with the hereditary angioedema prediction score
Semra Demir, et al
The authors aimed to develop a practical scoring system that can be used by doctors unfamiliar with HAE, to predict HAE in patients with recurrent angioedema attacks. After trialing their tool among patients, the authors conclude that their scoring system, called HAEps, is a valuable tool for diagnosing HAE in patients with recurrent angioedema, with a score of 38 or more indicating a strong likelihood of HAE.
(Clinical and Translational Allergy, April 2025)
Subjective assessment of sleep quality in adult patients with hereditary angioedema
Esra Karabiber, et al
The authors wanted to understand better sleep disorders, such as insomnia, in people with HAE. After asking 23 HAE patients about their quality of sleep, including questions about difficulty falling asleep and insomnia, the authors were able to conclude that poor sleep quality, taking a long time getting to sleep, and increased awakenings are common in people with HAE. They feel that screening for sleep disorders and providing more care for these could help people with HAE have better disease control and quality of life.
(Frontiers in Neurology, April 2025)
Factors contributing to non-compliance with on-demand treatment guidelines in hereditary angioedema
Stephen D Betschel, et al
The authors asked 107 people with HAE about their use of on-demand therapy and how they did or didn’t use treatment in the event of an attack. The authors found that 57% of respondents did not treat all attacks. In conclusion, the authors state that many HAE patients do not treat attacks early, despite the guidelines recommending that this happen. They believe that open patient-physician communication could be important to improve guideline compliance and management of HAE.
(Allergy, Asthma and Clinical Immunology, May 2025)
Assessment of potential drug-drug interactions in patients with hereditary angioedema from the ITACA cohort: simulations from a real-life dataset considering danazol versus berotralstat.
Andrea Zanichelli, et al
The authors looked at HAE patients who were taking medications for unrelated conditions, and investigated how likely they would be to have potentially problematic interactions between those medicines and the HAE treatments danazol or berotralstat. The authors conclude that berotralstat was consistently associated with a reduced risk of interactions between drugs compared with danazol.
(Frontiers in Pharmacology, April 2025)
The potential of factor XII inhibitors in preventing hereditary angioedema attacks
James KY Hooi, et al
The authors review the role of factor XII (FXII) in HAE and how stopping this could provide a new treatment option for the condition. The authors offer an expert opinion that FXII inhibition represents a promising new strategy for HAE management and may address existing unmet needs.
(Expert Opinion on Biological Therapy, May 2025)
Urticaria unveiled in hereditary angioedema with carboxypeptidase N mutation
Pedro Giavina-Bianchi, et al
The authors describe a novel form of HAE associated with a genetic mutation that affects carboxypeptidase N (CPN). They describe this as causing episodes of both angioedema and urticaria, which is unusual. They indicate that this has added complexity to the understanding of HAE, and a careful approach to diagnosis and treatment is necessary.
(Journal of Allergy and Clinical Immunology: Global, January 2025)
Dominant inheritance in hereditary angioedema associated with carboxypeptidase N deficiency
Tokimasa Hida, et al
In a similar article to the one above, the authors describe some novel genetic mutations that cause HAE, including those affecting CPN. The authors found a Japanese family who had HAE as a result of this mutation.
(Allergology International, April 2025)
Analyzing social media conversations to gain insights into the experiences of patients with hereditary angioedema
Julia Braverman, et al
The authors used a social media listening study to hear the experiences of HAE patients and better understand unmet needs. The authors conclude that using social media listening can be a valuable tool to aid in optimizing HAE management, and that disease burden is still considerable for people living with HAE.
(Allergy and Asthma Proceedings, May 2025)
Patient-reported outcomes in the phase-III OASIS-HAE study of donidalorsen for hereditary angioedema
Marc A Riedl, et al
The authors report on an analysis of donidalorsen, a potential new treatment for HAE, on quality of life and other patient-reported outcomes. The authors conclude that donidalorsen significantly improved quality of life and other patient-reported outcomes versus placebo in patients with HAE.
(Allergy, April 2025)
Establishing a hereditary angioedema prevalence for the United States using a large administrative claim database
Anthony J Castaldo, et al
The authors, who included individuals working with the US HAE Association, sought to create the first US prevalence estimate for HAE of all types, by using a database of medical insurance claims. The authors conclude that their calculations exceed the frequently cited HAE with C1 Inhibitor deficiency prevalence estimate of two patients per 100,000 people. For the last year of data examined (2020), the prevalence was 2.43 per 100,000. The authors believe their estimate affords a real-world projected prevalence that encompasses all types of HAE.
(Annals of Allergy, Asthma and Immunology, May 2025)
Health care providers’ experiences with genetic testing in patients at risk for hereditary angioedema
Dawn A Laney, et al
The authors aimed to assess healthcare providers’ (HCPs) experiences, practices, and comfort levels with genetic testing in patients who might have HAE. The authors conclude that although HCPs consider genetic testing for HAE, many lack confidence in ordering or interpreting results. The authors feel that further education of HCPs is needed and that increased collaboration with genetic experts will further support them.
(Journal of Allergy and Clinical Immunology: Global, February 2025)
Safety and pharmacokinetics of long-acting plasma kallikrein inhibitor navenibart (STAR-0215) in healthy adults
William Lumry, et al
The authors aimed to evaluate the safety, tolerability, and ways in which the human body processes navenibart, a potential new treatment to prevent HAE attacks. The authors gave the medicine to health volunteers, and in doing so, conclude that up to 1200mg of the medicine was well tolerated and lasted a long time in the human body.
(Annals of Allergy, Asthma and Immunology, July 2025)
Clinical validity of dried blood spot assay for the measurement of functional C1 inhibitor in angioedema due to C1 inhibitor deficiency
Jonathan A Bernstein, et al
The authors aimed to investigate the value of a new potential way to diagnose HAE, using only a dried spot of blood. The authors conclude that this new method is as sensitive and specific in aiding HAE diagnosis as another commonly used laboratory method of analysis. The authors believe this new method may have extra value in regions where diagnosis is currently hampered.
(Journal of Allergy and Clinical Immunology: Global, January 2025)
Substitution of reactive centre loop residues from C1 esterase inhibitor increases the inhibitory specificity of alpha-1 antitrypsin for plasma kallikrein
Sangavi Sivananthan, et al
The authors report some early scientific work aimed at developing more effective C1-esterase inhibitors.
(Journal of Biotechnology, May 2025)
The impact of COVID-19 on patients with bradykinin-mediated angioedema in the ITACA cohort
Riccardo Senter, et al
The authors used a large registry of HAE patients to find out whether they were at greater risk of COVID-19 and/or suffered worse disease. They conclude that HAE patients were not at greater risk of COVID and the clinical course of a COVID infection was not worse in HAE, although the severity of COVID-19 influences the features of acute angioedema attacks.
(Clinical and Experimental Allergy, May 2025)
Real-world evidence of the effectiveness and utilization of subcutaneous C1INH long-term prophylaxis in patients with HAE in Spain and Germany
Marcus Maurer, et al
The authors reviewed the outcomes of patients with HAE treated with subcutaneous long-term prophylaxis with C1-inhibitor replacement therapy. The authors conclude that emergency room visits and use of rescue medication were reduced, as was the annual rate of attacks in patients on long-term prophylaxis.
(Frontiers of Immunology, May 2025)
A call to action to use icatibant down to age 2 for hereditary angioedema
Aisha Mutch, et al
The authors suggest that, from their professional practice, it is appropriate to prescribe icatibant for children as young as two years old, as there is a need for therapies for young children with HAE in the United States.
(Annals of Allergy, Asthma and Immunology, May 2025)
Lanadelumab for prevention of attacks of non-histaminergic normal C1 inhibitor angioedema: results from the randomized, double-blind CASPIAN Study and CASPIAN open-label extension
Marc A Riedl, et al
The authors indicate that there is a lack of clinical trial data in preventing HAE with normal C1-inhibitor. They present the results of 77 patients treated either with lanadelumab, a targeted treatment for HAE, or receiving a placebo. The authors conclude that lanadelumab safety was similar in this patient population to that seen in previous studies. They report that efficacy was inconclusive, although there may be some benefit in symptom control.
(Frontiers of Immunology, May 2025)
Inhibition of activated coagulation factor XII by the phosphodiesterase-4 inhibitor roflumilast: In vitro and in silico studies
Hassan A Madkhali, et al
The authors are investigating the effect of existing medicines, phosphodiesterase-4 inhibitors, on the function of Factor XII in the human body. This could have potential benefits for HAE as a result of FXII mutations. The authors conclude that one medicine, called roflumilast, could have future potential in preventing HAE.
(Frontiers of Bioscience-Landmark, May 2025)