获得性c1抑制剂缺乏所致血管性水肿，无血液学症状：一项34例法国多中心队列研究

IF 8.2 1区医学 Q1 ALLERGY

Journal of Allergy and Clinical Immunology-In Practice Pub Date : 2025-03-01 DOI:10.1016/j.jaip.2024.12.027

Romain Stammler MD , Federica Defendi MD , Magali Aubineau MD , Beatrice Bibes MD , Isabelle Boccon-Gibod MD , Laurence Bouillet MD, PhD , Yoann Crabol MD , Marie Caroline Dalmas MD , Claire de Moreuil MD, PhD , Aurelien Delluc MD, PhD , Claire Dingremont MD , Aurelie Du-Thanh MD, PhD , Jerome Hadjadj MD, PhD , Pierre-Yves Jeandel MD, PhD , Galith Kalmi MD , Marion Lacoste MD , Ludovic Martin MD, PhD , Chloé Mc Avoy MSc , Claire Blanchard-Delaunay MD , Marie Caroline Taquet MD , Delphine Gobert MD

{"title":"获得性c1抑制剂缺乏所致血管性水肿，无血液学症状：一项34例法国多中心队列研究","authors":"Romain Stammler MD , Federica Defendi MD , Magali Aubineau MD , Beatrice Bibes MD , Isabelle Boccon-Gibod MD , Laurence Bouillet MD, PhD , Yoann Crabol MD , Marie Caroline Dalmas MD , Claire de Moreuil MD, PhD , Aurelien Delluc MD, PhD , Claire Dingremont MD , Aurelie Du-Thanh MD, PhD , Jerome Hadjadj MD, PhD , Pierre-Yves Jeandel MD, PhD , Galith Kalmi MD , Marion Lacoste MD , Ludovic Martin MD, PhD , Chloé Mc Avoy MSc , Claire Blanchard-Delaunay MD , Marie Caroline Taquet MD , Delphine Gobert MD","doi":"10.1016/j.jaip.2024.12.027","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><div>Angioedema (AE) due to acquired C1-inhibitor deficiency (AAE-C1-INH) is a rare disease associating recurrent edema of the mucosa and skin. Several underlying diseases have been reported, mainly lymphoproliferative diseases and monoclonal gammopathy. However, 15% to 20% of patients never exhibit such a hematological condition.</div></div><div><h3>Objective</h3><div>To analyze specific features of patients with AAE-C1-INH without a hematological condition.</div></div><div><h3>Methods</h3><div>This is a multicenter, retrospective cohort study of patients with AAE-C1-INH without a hematological condition included from January 1999 to May 2024 in the French national CREAK (Centre de reference des angioedèmes à kinine) registry. The clinical and biological characteristics of patients were detailed and then compared with those of patients with AAE-C1-INH associated with lymphoid hemopathies or monoclonal gammopathy.</div></div><div><h3>Results</h3><div>Thirty-four patients were included. All patients displayed a functional C1-INH below 50% of the reference value, 26 (76%) also had a decreased C1-INH antigen level, and 26 (76%) displayed anti-C1-INH antibodies. After a median follow-up of 65 months, 4 (12%) patients were in spontaneous complete remission of AE; 15 (44%) were in complete response under long-term prophylactic treatment. Compared with 75 patients with lymphoma-associated AAE-C1-INH, patients with AAE-C1-INH without a hematological condition displayed a higher incidence of anti-C1-INH antibodies and received more frequently symptomatic or prophylactic treatment with a lower remission rate at last follow-up. Clinical and biological features of patients with AAE-C1-INH without a hematological condition were similar to those of 30 patients with monoclonal gammopathy–associated AAE-C1-INH.</div></div><div><h3>Conclusions</h3><div>AAE-C1-INH without a hematological condition displays a different clinical and biological presentation from lymphoma-associated AAE-C1-INH. No autoimmune disease was identified. Unlike rituximab, long-term prophylaxis seems to prevent AE attacks among these patients.</div></div>","PeriodicalId":51323,"journal":{"name":"Journal of Allergy and Clinical Immunology-In Practice","volume":"13 3","pages":"Pages 542-550.e2"},"PeriodicalIF":8.2000,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Angioedema Due to Acquired C1-Inhibitor Deficiency Without Hematological Condition: A Multicenter French Cohort Study of 34 Patients\",\"authors\":\"Romain Stammler MD , Federica Defendi MD , Magali Aubineau MD , Beatrice Bibes MD , Isabelle Boccon-Gibod MD , Laurence Bouillet MD, PhD , Yoann Crabol MD , Marie Caroline Dalmas MD , Claire de Moreuil MD, PhD , Aurelien Delluc MD, PhD , Claire Dingremont MD , Aurelie Du-Thanh MD, PhD , Jerome Hadjadj MD, PhD , Pierre-Yves Jeandel MD, PhD , Galith Kalmi MD , Marion Lacoste MD , Ludovic Martin MD, PhD , Chloé Mc Avoy MSc , Claire Blanchard-Delaunay MD , Marie Caroline Taquet MD , Delphine Gobert MD\",\"doi\":\"10.1016/j.jaip.2024.12.027\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><div>Angioedema (AE) due to acquired C1-inhibitor deficiency (AAE-C1-INH) is a rare disease associating recurrent edema of the mucosa and skin. Several underlying diseases have been reported, mainly lymphoproliferative diseases and monoclonal gammopathy. However, 15% to 20% of patients never exhibit such a hematological condition.</div></div><div><h3>Objective</h3><div>To analyze specific features of patients with AAE-C1-INH without a hematological condition.</div></div><div><h3>Methods</h3><div>This is a multicenter, retrospective cohort study of patients with AAE-C1-INH without a hematological condition included from January 1999 to May 2024 in the French national CREAK (Centre de reference des angioedèmes à kinine) registry. The clinical and biological characteristics of patients were detailed and then compared with those of patients with AAE-C1-INH associated with lymphoid hemopathies or monoclonal gammopathy.</div></div><div><h3>Results</h3><div>Thirty-four patients were included. All patients displayed a functional C1-INH below 50% of the reference value, 26 (76%) also had a decreased C1-INH antigen level, and 26 (76%) displayed anti-C1-INH antibodies. After a median follow-up of 65 months, 4 (12%) patients were in spontaneous complete remission of AE; 15 (44%) were in complete response under long-term prophylactic treatment. Compared with 75 patients with lymphoma-associated AAE-C1-INH, patients with AAE-C1-INH without a hematological condition displayed a higher incidence of anti-C1-INH antibodies and received more frequently symptomatic or prophylactic treatment with a lower remission rate at last follow-up. Clinical and biological features of patients with AAE-C1-INH without a hematological condition were similar to those of 30 patients with monoclonal gammopathy–associated AAE-C1-INH.</div></div><div><h3>Conclusions</h3><div>AAE-C1-INH without a hematological condition displays a different clinical and biological presentation from lymphoma-associated AAE-C1-INH. No autoimmune disease was identified. Unlike rituximab, long-term prophylaxis seems to prevent AE attacks among these patients.</div></div>\",\"PeriodicalId\":51323,\"journal\":{\"name\":\"Journal of Allergy and Clinical Immunology-In Practice\",\"volume\":\"13 3\",\"pages\":\"Pages 542-550.e2\"},\"PeriodicalIF\":8.2000,\"publicationDate\":\"2025-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Allergy and Clinical Immunology-In Practice\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2213219824012765\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ALLERGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Allergy and Clinical Immunology-In Practice","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2213219824012765","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ALLERGY","Score":null,"Total":0}

引用次数: 0

摘要

背景：获得性c1抑制剂缺乏（AAE-C1-INH）引起的血管性水肿（AE）是一种罕见的与粘膜和皮肤复发性水肿相关的疾病。一些基础疾病已被报道，主要是淋巴增生性疾病和单克隆伽玛病。然而，15%至20%的患者从未表现出这种血液学状况。目的：分析无血液学状况的AAE-C1-INH患者的具体特征方法：对1999年1月至2024年5月在法国国家CREAK登记处登记的无血液学状况的AAE-C1-INH患者进行多中心回顾性队列研究；详细分析患者的临床和生物学特征，并与AAE-C1-INH合并淋巴样血液病或单克隆γ病的患者进行比较。结果：纳入34例患者。所有患者C1-INH均低于参考值的50%；26例（76%）患者C1-INH抗原水平降低；26例（76%）显示抗c1 - inh抗体。中位随访65个月后，4例（12%）患者自发性血管性水肿完全缓解；15例（44%）在长期预防性治疗下完全缓解。与75例淋巴瘤相关-AAE-C1-INH患者相比，无血液学症状的AAE-C1-INH患者抗c1 - inh抗体的发生率更高，接受对症或预防性治疗的频率更高，末次随访缓解率更低。无血液病的AAE-C1-INH患者的临床和生物学特征与30例单克隆γ病相关的AAE-C1-INH患者相似。结论：无血液学症状的AAE-C1-INH与淋巴瘤相关的AAE-C1-INH具有不同的临床和生物学表现。未发现自身免疫性疾病。与利妥昔单抗不同，长期预防似乎可以预防这些患者的血管性水肿发作。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Angioedema Due to Acquired C1-Inhibitor Deficiency Without Hematological Condition: A Multicenter French Cohort Study of 34 Patients

Background

Angioedema (AE) due to acquired C1-inhibitor deficiency (AAE-C1-INH) is a rare disease associating recurrent edema of the mucosa and skin. Several underlying diseases have been reported, mainly lymphoproliferative diseases and monoclonal gammopathy. However, 15% to 20% of patients never exhibit such a hematological condition.

Objective

To analyze specific features of patients with AAE-C1-INH without a hematological condition.

Methods

This is a multicenter, retrospective cohort study of patients with AAE-C1-INH without a hematological condition included from January 1999 to May 2024 in the French national CREAK (Centre de reference des angioedèmes à kinine) registry. The clinical and biological characteristics of patients were detailed and then compared with those of patients with AAE-C1-INH associated with lymphoid hemopathies or monoclonal gammopathy.

Results

Thirty-four patients were included. All patients displayed a functional C1-INH below 50% of the reference value, 26 (76%) also had a decreased C1-INH antigen level, and 26 (76%) displayed anti-C1-INH antibodies. After a median follow-up of 65 months, 4 (12%) patients were in spontaneous complete remission of AE; 15 (44%) were in complete response under long-term prophylactic treatment. Compared with 75 patients with lymphoma-associated AAE-C1-INH, patients with AAE-C1-INH without a hematological condition displayed a higher incidence of anti-C1-INH antibodies and received more frequently symptomatic or prophylactic treatment with a lower remission rate at last follow-up. Clinical and biological features of patients with AAE-C1-INH without a hematological condition were similar to those of 30 patients with monoclonal gammopathy–associated AAE-C1-INH.

Conclusions

AAE-C1-INH without a hematological condition displays a different clinical and biological presentation from lymphoma-associated AAE-C1-INH. No autoimmune disease was identified. Unlike rituximab, long-term prophylaxis seems to prevent AE attacks among these patients.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Journal of Allergy and Clinical Immunology-In Practice ALLERGYIMMUNOLOGY-IMMUNOLOGY

CiteScore

11.10

自引率

9.60%

发文量

683

审稿时长

50 days

期刊介绍： JACI: In Practice is an official publication of the American Academy of Allergy, Asthma & Immunology (AAAAI). It is a companion title to The Journal of Allergy and Clinical Immunology, and it aims to provide timely clinical papers, case reports, and management recommendations to clinical allergists and other physicians dealing with allergic and immunologic diseases in their practice. The mission of JACI: In Practice is to offer valid and impactful information that supports evidence-based clinical decisions in the diagnosis and management of asthma, allergies, immunologic conditions, and related diseases. This journal publishes articles on various conditions treated by allergist-immunologists, including food allergy, respiratory disorders (such as asthma, rhinitis, nasal polyps, sinusitis, cough, ABPA, and hypersensitivity pneumonitis), drug allergy, insect sting allergy, anaphylaxis, dermatologic disorders (such as atopic dermatitis, contact dermatitis, urticaria, angioedema, and HAE), immunodeficiency, autoinflammatory syndromes, eosinophilic disorders, and mast cell disorders. The focus of the journal is on providing cutting-edge clinical information that practitioners can use in their everyday practice or to acquire new knowledge and skills for the benefit of their patients. However, mechanistic or translational studies without immediate or near future clinical relevance, as well as animal studies, are not within the scope of the journal.