Article
Allergy
Zsuzsanna Balla, Noemi Andrasi, Zsofia Polai, Beata Visy, Ibolya Czaller, Gyorgy Temesszentandrasi, Dorottya Csuka, Lilian Varga, Henriette Farkas
Summary: Early diagnosis is crucial in preventing lethal upper airway edemas in patients with bradykinin-mediated angioedemas, as shown by our retrospective survey.
CLINICAL AND TRANSLATIONAL ALLERGY
(2021)
Article
Medicine, General & Internal
Katarzyna Piotrowicz-Wojcik, Malgorzata Bulanda, Aldona Juchacz, Joanna Jamroz-Brzeska, Jacek Gocki, Krzysztof Kuziemski, Robert Pawlowicz, Grzegorz Porebski
Summary: This study investigated the clinical characteristics and treatment practices of 138 adult HAE patients in Poland, finding that plasma-derived C1-INH, icatibant, and recombinant C1-INH were the main treatments used for attacks. Symptomatic women had a higher frequency of attacks and were more likely to treat themselves compared to men, while older patients experienced longer delays in diagnosis and self-administered rescue medication less frequently.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Allergy
Andrea Zanichelli, Henriette Farkas, Laurance Bouillet, Noemi Bara, Anastasios E. Germenis, Fotis Psarros, Lilian Varga, Noemi Andrasi, Isabelle Boccon-Gibod, Marco Castiglioni Roffia, Michal Rutkowski, Mauro Cancian
Summary: Hereditary angioedema (HAE) is a rare condition caused by genetic deficiency. Establishing a global registry can help collect data to better understand the clinical characteristics of this disease.
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
(2021)
Article
Allergy
Marcel Gutierrez, Camila L. Veronez, Solange O. Rodrigues Valle, Rozana Fatima Goncalves, Mariana Paes Leme Ferriani, Adriana S. Moreno, L. Karla Arruda, Marcelo Vivolo Aun, Pedro Giavina-Bianchi, Maria Luiza Oliva Alonso, Joao B. Pesquero, Anete S. Grumach
Summary: The study evaluates the prevalence of surgical procedures and/or acute abdomen in HAE patients with the coagulation factor XII mutation. Many HAE patients with coagulation factor XII mutation were misdiagnosed with acute abdomen and subjected to unnecessary invasive procedures.
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
(2021)
Article
Allergy
Konrad Bork, Karin Wulff, Gunther Witzke, Petra Staubach, Jochen Hardt, Peter Meinke
Summary: In patients with chronic recurrent angioedema without wheals that is unresponsive to antihistamines, it is possible to detect patients and families with hereditary angioedema with normal C1 inhibitor (HAEnCI) through genetic investigation. This is important because it allows for the identification of family members at risk for potentially life-threatening angioedema.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2023)
Article
Allergy
Erika Kajdacsi, Nora Veszeli, Blanka Mezo, Zsofia Jandrasics, Kinga Viktoria Kohalmi, Anne Lise Ferrara, Laszlo Cervenak, Lilian Varga, Henriette Farkas
Summary: Hereditary angioedema (HAE) with C1-inhibitor deficiency is a type of bradykinin-mediated angioedema, where patients show activation of neutrophil granulocytes during symptom-free periods and a further increase during attacks, indicating the potential important role of neutrophil granulocytes in the pathomechanism of HAE.
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
(2021)
Review
Medicine, General & Internal
Joshua Jacobs, Teresa Neeno
Summary: The majority of angioedema cases are histamine-mediated, with a small portion being bradykinin-related, particularly hereditary angioedema (HAE). Failure to recognize and intervene in HAE can lead to years of pain, disability, and even life-threatening situations when laryngeal involvement occurs. Management strategies include on-demand treatment, short-term prophylaxis, and long-term prophylaxis, with individualized care and focus on improving quality of life.
POSTGRADUATE MEDICINE
(2021)
Article
Medicine, General & Internal
P. Triggianese, R. Senter, A. Petraroli, A. Zoli, M. Lo Pizzo, D. Bignardi, E. Di Agosta, S. Agolini, F. Arcoleo, O. Rossi, S. Modica, E. Greco, M. S. Chimenti, G. Spadaro, C. De Carolis, M. Cancian
Summary: Most C1INH-HAE women can undergo successful pregnancy and delivery, with reassuring outcomes for those being treated with pdC1INH during pregnancy.
FRONTIERS IN MEDICINE
(2022)
Article
Allergy
Anna Valerieva, Maria T. Staevska, Vesna Grivcheva-Panovska, Milos Jesenak, Kinga Viktoria Kohalmi, Katarina Hrubiskova, Andrea Zanichelli, Luca Bellizzi, Anurag Relan, Roman Hakl, Henriette Farkas
Summary: The European treatment registry provided real-world data on the efficacy and safety of recombinant human C1 esterase inhibitor (rhC1-INH) in treating hereditary angioedema due to C1 esterase inhibitor deficiency (C1-INH-HAE), showing rapid symptom improvement with a majority of attacks requiring only one dose. No hypersensitivity, thrombotic/thromboembolic events, or drug-related serious adverse events were reported, indicating the treatment's consistency with clinical trial data.
WORLD ALLERGY ORGANIZATION JOURNAL
(2021)
Article
Genetics & Heredity
Paola Palao-Ocharan, Nieves Prior, Elia Perez-Fernandez, Magdalena Caminoa, DV-HAE-QoL Study Group, Teresa Caballero
Summary: This study validates the use of SF-36v2 for assessing health related quality of life in adult patients with C1-INH-HAE. The results show good internal consistency, construct validity, and test-retest reliability of SF-36v2. Although there are some limitations in content validity, this questionnaire is a useful tool for evaluating the HRQoL of C1-INH-HAE patients.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Immunology
Roberta Parente, Silvio Sartorio, Luisa Brussino, Tiziana De Pasquale, Alessandra Zoli, Stefano Agolini, Ester Di Agosta, Paolina Quattrocchi, Paolo Borrelli, Donatella Bignardi, Angelica Petraroli, Riccardo Senter, Valentina Popescu Janu, Chiara Cogliati, Maria Domenica Guarino, Oliviero Rossi, Davide Firinu, Stefano Pucci, Giuseppe Spadaro, Massimo Triggiani, Mauro Cancian, Andrea Zanichelli
Summary: This study aimed to collect data on the safety and tolerability of COVID-19 vaccines in patients with angioedema due to C1 inhibitor deficiency. The results showed no increase in the frequency of acute attacks within 72 hours following COVID-19 vaccinations compared to the rate before vaccination. This suggests that adult patients with angioedema due to C1 inhibitor deficiency can safely receive SARS-CoV-2 vaccination in a controlled medical setting and should have access to on-demand therapy.
Article
Allergy
Patrick F. K. Yong, Tanya Coulter, Tariq El-Shanawany, Tomaz Garcez, Scott Hackett, Rashmi Jain, Sorena Kiani-Alikhan, Ania Manson, Sadia Noorani, Catherine Stroud, Christine Symons, Ravishankar Sargur, Cathal Steele, Hana Alachkar, Ariharan Anantharachagan, Peter D. Arkwright, Jolanta Bernatoniene, Malini Bhole, Lindsay Brown, Elizabeth Drewe, Jillian Edmonds, Anjali Ekbote, Shuayb Elkhalifa, Sarah Goddard, Dorothea Grosse-Kreul, Padmalal Gurugama, Rosie Hague, Richard Herriot, Archana Herwadkar, Stephen M. Hughes, Laura Jones, Sara Lear, Elizabeth Mcdermott, Sai Hurng Kham Murng, Arthur Price, Vyanka Redenbaugh, Alex Richter, Andrew Riordan, Fiona Shackley, Julia Stichbury, Debbie Springett, Michael D. Tarzi, Moira Thomas, Pavaladurai Vijayadurai, Austen Worth
Summary: This study provides valuable demographic data and treatment modalities used in HAE and acquired C1 inhibitor deficiency in the United Kingdom, which are helpful for improving services and focusing on areas of improvement.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2023)
Review
Allergy
John Anderson, Njeri Maina
Summary: This article provides an overview of updated guideline recommendations for long-term prophylaxis (LTP) in hereditary angioedema (HAE) and explores clinical considerations and pharmacologic management options, with a focus on C1 inhibitor (C1INH). The consensus is that LTP should be considered routinely for risk reduction and prevention of future episodes. First-line options for LTP include C1INH and lanadelumab, with C1INH being broadly recommended for a range of patient types.
CLINICAL AND TRANSLATIONAL ALLERGY
(2022)
Review
Physiology
Aleksandr Shamanaev, S. Kent Dickeson, Ivan Ivanov, Maxim Litvak, Mao-Fu Sun, Sunil Kumar, Quifang Cheng, Priyanka Srivastava, Tracey Z. He, David Gailani
Summary: Patients with hereditary angioedema (HAE) experience soft tissue swelling due to excessive bradykinin production. While the underlying cause is often a deficiency of plasma C1 inhibitor, at least 10% of HAE patients have normal levels of this inhibitor. Two mutations in plasma protease zymogens have been identified as causative for HAE with normal C1 inhibitor activity, altering protease activity and accelerating the kallikrein-kinin system. The understanding of these mechanisms has important clinical implications.
FRONTIERS IN PHYSIOLOGY
(2023)
Article
Genetics & Heredity
Zsofia Polai, Erika Kajdacsi, Laszlo Cervenak, Zsuzsanna Balla, Szabolcs Benedek, Lilian Varga, Henriette Farkas
Summary: The newly developed complex ELISA method was used to measure C1-INH/C1-INH-Ab complexes (CAC) and investigate their connection to C1-INH-Ab and their changes in titer over time. The increasing titer of C1-INH-Ab is correlated with the decreasing level of CAC and vice versa. CAC measurements can predict the development of an underlying disease and monitor the effectiveness of its treatment.
ORPHANET JOURNAL OF RARE DISEASES
(2023)