Hereditary Angioedema with Normal C1 Inhibitor: an Updated International Consensus Paper on Diagnosis, Pathophysiology, and Treatment

被引：0

作者：

Zuraw, Bruce L. ^{[1
,2
]}

Bork, Konrad ^{[3
]}

Bouillet, Laurence ^{[4
,5
]}

Christiansen, Sandra C. ^{[1
]}

Farkas, Henriette ^{[6
]}

Germenis, Anastasios E. ^{[7
]}

Grumach, Anete S. ^{[8
]}

Kaplan, Allen ^{[9
]}

Lopez-Lera, Alberto ^{[10
]}

Magerl, Markus ^{[11
,12
,13
,14
]}

Riedl, Marc A. ^{[1
]}

Adatia, Adil ^{[15
]}

Banerji, Aleena ^{[16
]}

Betschel, Stephen ^{[17
]}

Boccon-Gibod, Isabelle ^{[4
]}

Bova, Maria ^{[18
]}

Boysen, Henrik Balle ^{[19
,20
]}

Caballero, Teresa ^{[10
,21
]}

Cancian, Mauro ^{[22
]}

Castaldo, Anthony J. ^{[19
,20
]}

Cohn, Danny M. ^{[23
]}

Corcoran, Deborah ^{[19
,20
]}

Drouet, Christian ^{[24
]}

Fukunaga, Atsushi ^{[25
]}

Hide, Michihiro ^{[26
,27
]}

Katelaris, Constance H. ^{[28
,29
]}

Li, Philip H. ^{[30
]}

Longhurst, Hilary ^{[31
,32
]}

Peter, Jonny ^{[33
,34
]}

Psarros, Fotis ^{[35
]}

Reshef, Avner ^{[36
]}

Ritchie, Bruce ^{[37
]}

Selva, Christine N. ^{[20
]}

Zanichelli, Andrea ^{[38
,39
]}

Maurer, Marcus ^{[11
,12
,13
,14
]}

机构：

[1] Univ Calif San Diego, Dept Med, Div Allergy & Immunol, 9500 Gilman Dr,Mail Code 0732, La Jolla, CA 92093 USA

[2] San Diego VA Healthcare, Med Serv, San Diego, CA 92161 USA

[3] Johannes Gutenberg Univ Mainz, Univ Med Ctr, Dept Dermatol, Mainz, Germany

[4] Univ Grenoble Alpes, T RAIG Unit, CNRS, UMR 5525, Grenoble, France

[5] Grenoble Univ Hosp, French Natl Reference Ctr Angioedema CREAK, Internal Med Dept, Grenoble, France

[6] Semmelweis Univ, Hungarian Angioedema Ctr Reference & Excellence, Dept Internal Med & Haematol, Budapest, Hungary

[7] Univ Thessaly, Sch Med, Dept Immunol & Histocompatibil, Mezourlo 41110, Larissa, Greece

[8] Univ Ctr Fac Med ABC, Angioedema Ctr Reference & Excellence ACARE, Santo Andre, Brazil

[9] Med Univ South Carolina, Charleston, SC USA

[10] Hosp La Paz Inst Hlth Res IdiPAZ, CIBERER U754, Madrid 28046, Spain

[11] Charite Univ med Berlin, Inst Allergol, Angioedema Ctr Reference & Excellence ACARE, Berlin, Germany

[12] Free Univ Berlin, Berlin, Germany

[13] Humboldt Univ, Berlin, Germany

[14] Fraunhofer Inst Translat Med & Pharmacol ITMP, Immunol & Allergol, Berlin, Germany

[15] Univ Alberta, Dept Med, Div Pulm Med, Edmonton, AB, Canada

[16] Massachusetts Gen Hosp, Dept Med, Div Rheumatol Allergy & Immunol, Boston, MA USA

[17] Univ Toronto, Div Clin Immunol & Allergy, Toronto, ON, Canada

[18] A Cardarelli Hosp, Dept Med & Med Specialties, Div Internal Med 2, Naples, Italy

[19] HAE Int HAEi, Fairfax, VA USA

[20] US Hereditary Angioedema Assoc US HAEA, Fairfax, VA USA

[21] La Paz Univ Hosp, Dept Allergy, Madrid, Spain

[22] Univ Padua, Dept Med, Padua, Italy

[23] Univ Amsterdam, Dept Vasc Med, Amsterdam Cardiovasc Sci, Amsterdam UMC, Amsterdam, Netherlands

[24] Univ Paris Cite, Inst Cochin, INSERM, Paris, France

[25] Osaka Med & Pharmaceut Univ, Fac Med, Dept Dermatol, Div Med Funct & Morphol Sensory Organs, Takatsuki, Osaka, Japan

[26] Hiroshima City Hiroshima Citizens Hosp, Dept Dermatol, Hiroshima, Japan

[27] Hiroshima Univ, Dept Dermatol, Hiroshima, Japan

[28] Campbelltown Hosp, Dept Med, Immunol & Allergy Unit, Sydney, Australia

[29] Western Sydney Univ, Sydney, Australia

[30] Univ Hong Kong, Queen Mary Hosp, Dept Med, Div Rheumatol & Clin Immunol, Hong Kong, Peoples R China

[31] Univ Auckland, Dept Med, Auckland, New Zealand

[32] Auckland City Hosp, Dept Immunol, Auckland, New Zealand

[33] Univ Cape Town, Groote Schuur Hosp, Dept Med, Div Allergy & Clin Immunol, Cape Town, South Africa

[34] Univ Cape Town, Lung Inst, Allergy & Immunol Unit, Cape Town, South Africa

[35] Athens Naval Hosp, Dept Allergy, Athens, Greece

[36] Barzilai Univ, Med Ctr, Ashqelon, Israel

[37] Univ Alberta, Dept Med, Div Hematol, Edmonton, AB, Canada

[38] IRCCS Policlin San Donato, Angioedema Ctr, Operat Unit Med, Milan, Italy

[39] Univ Milan, Dipartimento Sci Biomed Salute, Milan, Italy

来源：

CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY | 2025年 / 68卷 / 01期

关键词：

HAE; HAE-C1INH; HAE-nC1INH; Bradykinin; Diagnosis; Pathophysiology; Treatment; MOLECULAR-WEIGHT KININOGEN; CONVERTING ENZYME-INHIBITOR; NORMAL PAI-2 LEVEL; FACTOR-XII; F12; GENE; BRADYKININ FORMATION; ANGIONEUROTIC EDEMA; CARBOXYPEPTIDASE-N; MISSENSE MUTATIONS; CLINICAL-FEATURES;

D O I：

10.1007/s12016-025-09027-4

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

Hereditary angioedema (HAE) has been recognized for almost 150 years. The newest form of HAE, where C1 inhibitor levels are normal (HAE-nC1INH), was first described in 2000. Over the last two decades, new types of apparent non-mast cell-mediated angioedema with normal quantity and activity of C1INH have been described, in some cases with proven genetic pathogenic variants that co-segregate with angioedema expression within families. Like HAE due to C1INH deficiency, HAE-nC1INH patients are at risk of serious morbidity and mortality. Therefore, proactive management and treatment of HAE-nC1INH patients after an expert physician diagnosis is critically important. The underlying pathophysiology responsible for the angioedema has also been clarified in some of the HAE-nC1INH types. While several clinical guidelines and practice parameters including HAE-nC1INH have been published, we have made substantial progress in our understanding encompassing diagnostic criteria, pathophysiology, and treatment outcomes. HAE International (HAEi) and the US HAE Association (HAEA) convened a symposium of global HAE-nC1INH experts to synthesize our current knowledge in the area. Given the paucity of high-level evidence in HAE-nC1INH, all recommendations are based on expert opinion. This review and expert opinion on the best practice approach to diagnosing and treating HAE-nC1INH will support physicians to better manage patients with HAE-nC1INH.

引用

页数：24

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