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1. A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency

Author

Sofia Vatsiou, Maria Zamanakou, Gedeon Loules, Fotis Psarros, Faidra Parsopoulou, Dorottya Csuka, Anna Valerieva, Maria Staevska, Grzegorz Porebski, Krystyna Obtulowicz, Markus Magerl, Marcus Maurer, Matthaios Speletas, Henriette Farkas, and Anastasios E. Germenis

Subjects
C1-inhibitor deficiency, Hereditary angioedema, Intronic mutations, Next-generation sequencing, SERPING1 gene, Immunologic diseases. Allergy, RC581-607
Abstract

Background: In about 5% of patients with hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) no mutation in the SERPING1 gene is detected. Methods: C1-INH-HAE cases with no mutation in the coding region of SERPING1 after conventional genotyping were examined for defects in the intronic or untranslated regions of the gene. Using a next-generation sequencing (NGS) platform targeting the entire SERPING1, 14 unrelated C1-INH-HAE patients with no detectable mutations in the coding region of the gene were sequenced. Detected variants with a global minor allele frequency lower than the frequency of C1-INH-HAE (0.002%), were submitted to in silico analysis using ten different bioinformatics tools. Pedigree analysis and examination of their pathogenic effect on the RNA level were performed for filtered in variants. Results: In two unrelated patients, the novel mutation c.-22-155G > T was detected in intron 1 of the SERPING1 gene by the use NGS and confirmed by Sanger sequencing. All bioinformatics tools predicted that the variant causes a deleterious effect on the gene and pedigree analysis showed its co-segregation with the disease. Degradation of the mutated allele was demonstrated by the loss of heterozygosity on the cDNA level. According to the American College of Medical Genetics and Genomics 2015 guidelines the c.-22-155G > T was curated as pathogenic. Conclusions: For the first time, a deep intronic mutation that was detected by NGS in the SERPING1 gene, was proven pathogenic for C1-INH-HAE. Therefore, advanced DNA sequencing methods should be performed in cases of C1-INH-HAE where standard approaches fail to uncover the genetic alteration.

Published
2020
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2. The international WAO/EAACI guideline for the management of hereditary angioedema – The 2021 revision and update

Author

Marcus Maurer, MD, Markus Magerl, MD, Stephen Betschel, MD, Werner Aberer, MD, Ignacio J. Ansotegui, MD, PhD, Emel Aygören-Pürsün, MD, Aleena Banerji, MD, Noémi-Anna Bara, MD, Isabelle Boccon-Gibod, MD, Konrad Bork, MD, Laurence Bouillet, Pr, MD, PhD, Henrik Balle Boysen, Nicholas Brodszki, MD, PhD, Paula J. Busse, MD, Anette Bygum, MD, DMSci, Teresa Caballero, MD, PhD, Mauro Cancian, MD, PhD, Anthony J. Castaldo, Danny M. Cohn, MD, PhD, Dorottya Csuka, MD, Henriette Farkas, MD, PhD, DSc, Mark Gompels, MBBS, BSc, MD, Richard Gower, MD, Anete S. Grumach, MD, PhD, Guillermo Guidos-Fogelbach, MD, PhD, Michihiro Hide, MD, PhD, Hye-Ryun Kang, MD, PhD, Allen P. Kaplan, MD, Constance H. Katelaris, MBBS, PhD, Sorena Kiani-Alikhan, PhD, Wei-Te Lei, MD, Richard F. Lockey, MD, Hilary Longhurst, PhD, William Lumry, MD, Andrew MacGinnitie, MD, PhD, Alejandro Malbran, MD, PhD, Inmaculada Martinez Saguer, MD, Juan José Matta Campos, MD, Alexander Nast, MD, Dinh Nguyen, MD, PhD, Sandra A. Nieto-Martinez, MD, Ruby Pawankar, MD, PhD, Jonathan Peter, MB ChB, MMed, FCP (SA), PhD, Grzegorz Porebski, MD, Nieves Prior, MD, PhD, Avner Reshef, MD, Marc Riedl, MD, Bruce Ritchie, MD, Farrukh Rafique Sheikh, MBBS, William B. Smith, MBBS, PhD, Peter J. Spaeth, PhD, Marcin Stobiecki, MD, Elias Toubi, MD, Lilian Agnes Varga, PhD, Karsten Weller, MD, Andrea Zanichelli, MD, Yuxiang Zhi, MD, Bruce Zuraw, MD, and Timothy Craig, MD

Subjects
Hereditary angioedema, C1-inhibitor, diagnosis, GRADE therapy, management, disease control, Immunologic diseases. Allergy, RC581-607
Abstract

Hereditary Angioedema (HAE) is a rare and disabling disease for which early diagnosis and effective therapy are critical. This revision and update of the global WAO/EAACI guideline on the diagnosis and management of HAE provides up-to-date guidance for the management of HAE. For this update and revision of the guideline, an international panel of experts reviewed the existing evidence, developed 28 recommendations, and established consensus by an online DELPHI process. The goal of these recommendations and guideline is to help physicians and their patients in making rational decisions in the management of HAE with deficient C1-inhibitor (type 1) and HAE with dysfunctional C1-inhibitor (type 2), by providing guidance on common and important clinical issues, such as: 1) How should HAE be diagnosed? 2) When should HAE patients receive prophylactic on top of on-demand treatment and what treatments should be used? 3) What are the goals of treatment? 4) Should HAE management be different for special HAE patient groups such as children or pregnant/breast feeding women? 5) How should HAE patients monitor their disease activity, impact, and control? It is also the intention of this guideline to help establish global standards for the management of HAE and to encourage and facilitate the use of recommended diagnostics and therapies for all patients.

Published
2022
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3. How are patients with chronic urticaria interested in using information and communication technologies to guide their healthcare? A UCARE study

Author

Ivan Cherrez-Ojeda, Emanuel Vanegas, Annia Cherrez, Miguel Felix, Karsten Weller, Markus Magerl, Rasmus Robin Maurer, Valeria L. Mata, Alicja Kasperska-Zajac, Agnieszka Sikora, Daria Fomina, Elena Kovalkova, Kiran Godse, Nimmagadda Dheeraj Rao, Maryam Khoshkhui, Sahar Rastgoo, Roberta FJ. Criado, Mohamed Abuzakouk, Deepa Grandon, Martijn B.A. Van Doorn, Solange Oliveira Rodrigues Valle, Eduardo Magalhães De Souza Lima, Simon Francis Thomsen, German D. Ramón, Edgar E. Matos Benavides, Andrea Bauer, Ana M. Giménez-Arnau, Emek Kocatürk, Carole Guillet, Jose Ignacio Larco, Zuo-Tao Zhao, Michael Makris, Carla Ritchie, Paraskevi Xepapadaki, Luis Felipe Ensina, Sofia Cherrez, and Marcus Maurer

Subjects
Chronic urticaria, Information and communication technologies, Internet, e-mail, WhatsApp, Immunologic diseases. Allergy, RC581-607
Abstract

Background: Patients with chronic urticaria (CU) are increasingly using information and communication technologies (ICTs) to manage their health. What CU patients expect from ICTs and which ICTs they prefer remains unknown. We assessed why CU patients use ICTs, which ones they prefer, and what drives their expectations and choices. Methods: In this cross-sectional study, 1841 patients across 17 countries were recruited at UCAREs (Urticaria Centers of Reference and Excellence). Patients with CU who were >12 years old completed a 23-item questionnaire. Results: Most patients were interested in receiving disease information (87.3%), asking physicians about CU (84.1%), and communicating with other patients through ICTs (65.6%). For receiving disease information, patients preferred one-to-one and one-to-many ICTs, especially web browsers. One-to-one ICTs were also the ICTs of choice for asking physicians about urticaria and for communicating with other patients, and e-mail and WhatsApp were the preferred ICTs, respectively. Many-to-many ICTs such as Facebook, Instagram, LinkedIn, and Twitter were least preferred for all 3 purposes. Living in rural areas and higher education were linked to higher odds of being interested in receiving disease information, asking physicians, and communicating with patients through ICTs. Conclusions: Most patients and especially patients with higher education who live in rural areas are interested in using ICTs for their healthcare, but prefer different ICTs for different purposes, ie, web browsers for obtaining information, e-mail for asking physicians, and WhatsApp for communicating with other patients. Our findings may help to improve ICTs for CU.

Published
2021
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4. The usage, quality and relevance of information and communications technologies in patients with chronic urticaria: A UCARE study

Author

Marcus Maurer, Karsten Weller, Markus Magerl, Rasmus Robin Maurer, Emanuel Vanegas, Miguel Felix, Annia Cherrez, Valeria L. Mata, Alicja Kasperska-Zajac, Agnieszka Sikora, Daria Fomina, Elena Kovalkova, Kiran Godse, Nimmagadda Dheeraj Rao, Maryam Khoshkhui, Sahar Rastgoo, Roberta Fachini Jardim Criado, Mohamed Abuzakouk, Deepa Grandon, Martijn van Doorn, Solange Olliveira Rodrigues Valle, Eduardo Magalhães de Souza Lima, Simon Francis Thomsen, German D. Ramón, Edgar E. Matos Benavides, Andrea Bauer, Ana Maria Giménez-Arnau, Emek Kocatürk, Carole Guillet, Jose Ignacio Larco, Zuo-Tao Zhao, Michael Makris, Carla Ritchie, Paraskevi Xepapadaki, Luis Felipe Ensina, Sofia Cherrez, and Ivan Cherrez-Ojeda

Subjects
(3–5) ICT, Information and communications technology, Urticaria, Self-management, Immunologic diseases. Allergy, RC581-607
Abstract

Background: Chronic urticaria (CU) is characterized by itchy recurrent wheals, angioedema, or both for 6 weeks or longer. CU can greatly impact patients' physical and emotional quality of life. Patients with chronic conditions are increasingly seeking information from information and communications technologies (ICTs) to manage their health. The objective of this study was to assess the frequency of usage and preference of ICTs from the perspective of patients with CU. Methods: In this cross-sectional study, 1800 patients were recruited from primary healthcare centers, university hospitals or specialized clinics that form part of the UCARE (Urticaria Centers of Reference and Excellence) network throughout 16 countries. Patients were >12 years old and had physician-diagnosed chronic spontaneous urticaria (CSU) or chronic inducible urticaria (CIndU). Patients completed a 23-item questionnaire containing questions about ICT usage, including the type, frequency, preference, and quality, answers to which were recorded in a standardized database at each center. For analysis, ICTs were categorized into 3 groups as follows: one-to-one: SMS, WhatsApp, Skype, and email; one-to-many: YouTube, web browsers, and blogs or forums; many-to-many: Instagram, Twitter, Facebook, and LinkedIn. Results: Overall, 99.6% of CU patients had access to ICT platforms and 96.7% had internet access. Daily, 85.4% patients used one-to-one ICT platforms most often, followed by one-to-many ICTs (75.5%) and many-to-many ICTs (59.2%). The daily ICT usage was highest for web browsers (72.7%) and WhatsApp (70.0%). The general usage of ICT platforms increased in patients with higher levels of education. One-to-many was the preferred ICT category for obtaining general health information (78.3%) and for CU-related information (75.4%). A web browser (77.6%) was by far the most commonly used ICT to obtain general health information, followed by YouTube (25.8%) and Facebook (16.3%). Similarly, for CU-specific information, 3 out of 4 patients (74.6%) used a web browser, 20.9% used YouTube, and 13.6% used Facebook. One in 5 (21.6%) patients did not use any form of ICT for obtaining information on CU. The quality of the information obtained from one-to-many ICTs was rated much more often as very interesting and of good quality for general health information (53.5%) and CU-related information (51.5%) as compared to the other categories. Conclusions: Usage of ICTs for health and CU-specific information is extremely high in all countries analyzed, with web browsers being the preferred ICT platform.

Published
2020
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5. WAO Guideline for the Management of Hereditary Angioedema

Author

Timothy Craig, DO, Emel Aygören Pürsün, MD, Konrad Bork, MD, Tom Bowen, MD, Henrik Boysen, Henriette Farkas, MD PhD, Anete Grumach, MD PhD, Constance H. Katelaris, MB BS PhD, Richard Lockey, MD, Hilary Longhurst, MD, William Lumry, MD, Markus Magerl, MD, Immaculada Martinez-Saguer, MD PhD, Bruce Ritchie, MD, Alexander Nast, MD, Ruby Pawankar, MD PhD, Bruce Zuraw, MD, and Marcus Maurer, MD

Subjects
Immunologic diseases. Allergy, RC581-607
Abstract

Hereditary Angioedema (HAE) is a rare disease and for this reason proper diagnosis and appropriate therapy are often unknown or not available for physicians and other health care providers. For this reason we convened a group of specialists that focus upon HAE from around the world to develop not only a consensus on diagnosis and management of HAE, but to also provide evidence based grades, strength of evidence and classification for the consensus. Since both consensus and evidence grading were adhered to the document meets criteria as a guideline. The outcome of the guideline is to improve diagnosis and management of patients with HAE throughout the world and to help initiate uniform care and availability of therapies to all with the diagnosis no matter where the residence of the individual with HAE exists. Keywords: Hereditary Angioedema, Guidelines, HAE, therapy, management, diagnosis, medications, international

Published
2012
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6. A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency

Author

Faidra Parsopoulou, Grzegorz Porebski, Anna Valerieva, Krystyna Obtułowicz, Anastasios E. Germenis, Sofia Vatsiou, Gedeon Loules, Marcus Maurer, Maria Zamanakou, Matthaios Speletas, Markus Magerl, Henriette Farkas, Dorottya Csuka, Maria Staevska, and Fotis Psarros

Subjects
lcsh:Immunologic diseases. Allergy, Genotype, Intronic mutations, Genomics, Biology, DNA sequencing, C1-inhibitor deficiency, Loss of heterozygosity, symbols.namesake, Gene Frequency, Humans, Immunology and Allergy, Coding region, Genetic Predisposition to Disease, Allele, Alleles, Genetics, Sanger sequencing, Hereditary angioedema, Angioedemas, Hereditary, intronic mutations, Computational Biology, High-Throughput Nucleotide Sequencing, General Medicine, Introns, hereditary angioedema, Minor allele frequency, Mutation, Mutation (genetic algorithm), symbols, Next-generation sequencing, SERPING1 gene, next-generation sequencing, lcsh:RC581-607, Complement C1 Inhibitor Protein
Abstract

Background In about 5% of patients with hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) no mutation in the SERPING1 gene is detected. Methods C1-INH-HAE cases with no mutation in the coding region of SERPING1 after conventional genotyping were examined for defects in the intronic or untranslated regions of the gene. Using a next-generation sequencing (NGS) platform targeting the entire SERPING1, 14 unrelated C1-INH-HAE patients with no detectable mutations in the coding region of the gene were sequenced. Detected variants with a global minor allele frequency lower than the frequency of C1-INH-HAE (0.002%), were submitted to in silico analysis using ten different bioinformatics tools. Pedigree analysis and examination of their pathogenic effect on the RNA level were performed for filtered in variants. Results In two unrelated patients, the novel mutation c.-22-155G > T was detected in intron 1 of the SERPING1 gene by the use NGS and confirmed by Sanger sequencing. All bioinformatics tools predicted that the variant causes a deleterious effect on the gene and pedigree analysis showed its co-segregation with the disease. Degradation of the mutated allele was demonstrated by the loss of heterozygosity on the cDNA level. According to the American College of Medical Genetics and Genomics 2015 guidelines the c.-22-155G > T was curated as pathogenic. Conclusions For the first time, a deep intronic mutation that was detected by NGS in the SERPING1 gene, was proven pathogenic for C1-INH-HAE. Therefore, advanced DNA sequencing methods should be performed in cases of C1-INH-HAE where standard approaches fail to uncover the genetic alteration.

Published
2020

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