{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T07:59:34Z","timestamp":1768982374175,"version":"3.49.0"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T00:00:00Z","timestamp":1768348800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T00:00:00Z","timestamp":1768867200000},"content-version":"vor","delay-in-days":6,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Pharming Healthcare, Inc."}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Clin Exp Med"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Hereditary angioedema (HAE), a rare genetic disorder, is classified into 3 types: Type 1 (low C1 esterase inhibitor [C1-INH]), Type 2 (dysfunctional C1-INH), and HAE-nl-C1INH (normal C1-INH levels). This study aimed to compare characteristics among individuals with HAE Type 1\/2 and HAE-nl-C1INH. A cross-sectional online survey was conducted (June 2020\u2013September 2021) among adults with HAE to capture various patient-specific data and health care utilization. Statistical analyses included Fisher exact test,\n                    <jats:italic>t<\/jats:italic>\n                    test, and odds ratios (OR) with 95% confidence intervals (CI). Eighty-nine participants were included (HAE Type 1\/2,\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200944; HAE-nl-C1INH,\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200945). No significant differences in demographics, treatment characteristics, and HAE triggers were observed between groups. Participants with HAE-nl-C1INH were less likely to be diagnosed before 18 years of age (4% vs. 32%; OR, 0.10; 95% CI, 0.02\u20130.50) and had higher odds of experiencing frequent HAE attacks (47% vs. 14%; OR, 5.5; 95% CI, 2.0\u201315.7) than those with HAE Type 1\/2. Participants with HAE-nl-C1INH also had increased odds of orofacial-laryngeal swelling (31% vs. 16%; OR, 2.3; 95% CI, 1.1\u20134.7), more frequent doctor visits (&gt;\u20091 visit\/month: 31% vs. 11%; OR, 3.5; 95% CI, 1.1\u201310.8), and more concomitant conditions (93% vs. 77%; OR, 3.8; 95% CI, 1.6\u20139.2). The total health-related quality of life score was significantly worse in participants with HAE-nl-C1INH (53.6 vs. 38.2;\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.0001). Participants with HAE-nl-C1INH experience a significantly greater disease burden than those with HAE Type 1\/2, emphasizing the need for improved diagnosis, targeted treatment strategies, and a deeper understanding of the prevalence and pathophysiology of HAE-nl-C1INH.\n                  <\/jats:p>","DOI":"10.1007\/s10238-025-02010-5","type":"journal-article","created":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T12:04:58Z","timestamp":1768392298000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Patient-reported disease burden and health care utilization of HAE-nl-C1INH: insights from a real-world survey"],"prefix":"10.1007","volume":"26","author":[{"given":"Douglas","family":"Jones","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-5183-9153","authenticated-orcid":false,"given":"Nihal","family":"Narsipur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sally W.","family":"Wade","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph R.","family":"Harper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nami","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Adams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anurag","family":"Relan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda","family":"Harrington","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Anderson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,1,14]]},"reference":[{"issue":"1","key":"2010_CR1","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1016\/j.jaip.2020.08.046","volume":"9","author":"PJ Busse","year":"2021","unstructured":"Busse PJ, Christiansen SC, Riedl MA, Banerji A, Bernstein JA, Castaldo AJ, et al. US HAEA medical advisory board 2020 guidelines for the management of hereditary angioedema. J Allergy Clin Immunol Pract. 2021;9(1):132\u201350.e3.","journal-title":"J Allergy Clin Immunol Pract"},{"issue":"1","key":"2010_CR2","doi-asserted-by":"publisher","first-page":"100621","DOI":"10.1016\/j.waojou.2021.100621","volume":"15","author":"DH Jones","year":"2022","unstructured":"Jones DH, Bansal P, Bernstein JA, Fatteh S, Harper J, Hsu FI, et al. Clinical profile and treatment outcomes in patients with hereditary angioedema with normal C1 esterase inhibitor. World Allergy Organ J. 2022;15(1):100621.","journal-title":"World Allergy Organ J"},{"issue":"7","key":"2010_CR3","doi-asserted-by":"publisher","first-page":"1961","DOI":"10.1111\/all.15214","volume":"77","author":"M Maurer","year":"2022","unstructured":"Maurer M, Magerl M, Betschel S, Aberer W, Ansotegui IJ, Ayg\u00f6ren-P\u00fcrs\u00fcn E, et al. The international WAO\/EAACI guideline for the management of hereditary angioedema-the 2021 revision and update. Allergy. 2022;77(7):1961\u201390.","journal-title":"Allergy"},{"issue":"6","key":"2010_CR4","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1177\/0091217419837068","volume":"54","author":"\u00d6 Kuman Tun\u00e7el","year":"2019","unstructured":"Kuman Tun\u00e7el \u00d6, G\u00f6kmen NM, Demir E, G\u00fclbahar O, P\u0131r\u0131ldar \u015e. The impact of hereditary angioedema on quality of life and family planning decisions. Int J Psychiatry Med. 2019;54(6):377\u201394.","journal-title":"Int J Psychiatry Med"},{"issue":"5","key":"2010_CR5","doi-asserted-by":"publisher","first-page":"407","DOI":"10.2500\/aap.2010.31.3394","volume":"31","author":"WR Lumry","year":"2010","unstructured":"Lumry WR, Castaldo AJ, Vernon MK, Blaustein MB, Wilson DA, Horn PT. The humanistic burden of hereditary angioedema: impact on health-related quality of life, productivity, and depression. Allergy Asthma Proc. 2010;31(5):407\u201314.","journal-title":"Allergy Asthma Proc"},{"key":"2010_CR6","doi-asserted-by":"publisher","first-page":"1263432","DOI":"10.3389\/falgy.2023.1263432","volume":"4","author":"H Lima","year":"2023","unstructured":"Lima H, Zheng J, Wong D, Waserman S, Sussman GL. Pathophysiology of bradykinin and histamine mediated angioedema. Front Allergy. 2023;4:1263432.","journal-title":"Front Allergy"},{"issue":"1","key":"2010_CR7","first-page":"48","volume":"121","author":"H Zafra","year":"2022","unstructured":"Zafra H. Hereditary angioedema: a review. WMJ. 2022;121(1):48\u201353.","journal-title":"WMJ"},{"key":"2010_CR8","doi-asserted-by":"publisher","first-page":"447","DOI":"10.2147\/JAA.S398333","volume":"16","author":"D Jones","year":"2023","unstructured":"Jones D, Zafra H, Anderson J. 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Advancing patient care through specialty pharmacy services in an academic health system. J Manag Care Spec Pharm. 2017;23(8):815\u201320.","journal-title":"J Manag Care Spec Pharm"}],"container-title":["Clinical and Experimental Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10238-025-02010-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10238-025-02010-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10238-025-02010-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T17:02:30Z","timestamp":1768928550000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10238-025-02010-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,14]]},"references-count":21,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["2010"],"URL":"https:\/\/doi.org\/10.1007\/s10238-025-02010-5","relation":{},"ISSN":["1591-9528"],"issn-type":[{"value":"1591-9528","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,14]]},"assertion":[{"value":"14 November 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 December 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 January 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All participants provided informed consent. Advarra Institutional Review Board (Columbia, MD) reviewed the protocol and survey and provided an exemption for institutional review board oversight.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"DJ is a consultant for Pharming Healthcare, Inc., KalVista Pharmaceuticals, Takeda Pharmaceutical Company, Ltd, CSL Behring, BioCryst Pharmaceuticals, Inc, and Pharvaris; JA is a speakers bureau member for CSL Behring, Pharming Healthcare, Inc., BioCryst Pharmaceuticals, Inc, Takeda Pharmaceutical Company, Ltd, AstraZeneca, and GSK; has received consulting fees from CSL Behring, Pharming Healthcare, Inc., BioCryst Pharmaceuticals, Inc, Pharvaris, Ionis, Takeda Pharmaceutical Company, Ltd, and Novartis AG; and is a clinical trial investigator for BioCryst Pharmaceuticals, Inc, CSL Behring, Pharvaris, KalVista Pharmaceuticals, Astria Therapeutics, Takeda Pharmaceutical Company, Ltd, Novartis AG, and CellDex Therapeutics; SWW received consulting fees from Pharming Healthcare, Inc.; and JRH, NP, AR, PA, AH, and NN are employees of Pharming Healthcare, Inc.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"108"}}