H Henry Li1, Paula Busse2, William R Lumry3, Ashley Frazer-Abel4, Howard Levy5, Tamara Steele5, Jeffrey Dayno5, Marc Riedl6. 1. Institute for Asthma and Allergy, Chevy Chase, Md. Electronic address: hl@allergyasthma.us. 2. Department of Medicine, Division of Clinical Immunology, Mount Sinai School of Medicine, New York, NY. 3. Allergy and Asthma Research Association, Research Center, Dallas, Tex. 4. Complement Laboratory, National Jewish Health, Denver, Colo. 5. ViroPharma Incorporated (part of the Shire Group of Companies), Exton, Pa. 6. Department of Medicine, Division of Rheumatology, Allergy and Immunology, University of California-San Diego, La Jolla, Calif.
Abstract
INTRODUCTION: Measuring functional C1 inhibitor (C1 INH) with chromogenic or ELISA methods can confirm a diagnosis of hereditary angioedema (HAE) due to C1 INH deficiency. Previous studies found differences in the agreement of these assays. OBJECTIVE: To evaluate the agreement between chromogenic or ELISA methods in the context of an observational study. METHODS: Patients with previously confirmed HAE underwent functional C1 INH testing. These patients contacted first-degree relatives (parents, siblings, or offspring) not previously evaluated for HAE, who underwent a panel of complement testing, including for functional C1 INH. RESULTS: Overall, 31 patients with HAE and 46 untested relatives enrolled. Of 46 relatives, 14 (30.4%) were newly diagnosed with HAE based on their laboratory results. Among the 31 patients previously confirmed with HAE, all had low functional C1 INH according to the chromogenic method, whereas 22 (71.0%) had low, 7 (22.6%) had equivocal, and 2 (6.5%) had normal functional C1 INH according to the ELISA method. In the 14 newly diagnosed relatives, all had low functional C1 INH according to the chromogenic method, whereas 11 (78.5%) had low and 3 (21.4%) had equivocal results according to the ELISA method. CONCLUSION: Despite the apparent discordance in the ELISA and chromogenic assays in a small number of patients, both were useful in measuring functional C1 INH. To establish the diagnosis of HAE due to C1 INH deficiency, functional C1 INH results should be interpreted in combination with family and clinical history, and with other complement tests.
INTRODUCTION: Measuring functional C1 inhibitor (C1 INH) with chromogenic or ELISA methods can confirm a diagnosis of hereditary angioedema (HAE) due to C1 INH deficiency. Previous studies found differences in the agreement of these assays. OBJECTIVE: To evaluate the agreement between chromogenic or ELISA methods in the context of an observational study. METHODS:Patients with previously confirmed HAE underwent functional C1 INH testing. These patients contacted first-degree relatives (parents, siblings, or offspring) not previously evaluated for HAE, who underwent a panel of complement testing, including for functional C1 INH. RESULTS: Overall, 31 patients with HAE and 46 untested relatives enrolled. Of 46 relatives, 14 (30.4%) were newly diagnosed with HAE based on their laboratory results. Among the 31 patients previously confirmed with HAE, all had low functional C1 INH according to the chromogenic method, whereas 22 (71.0%) had low, 7 (22.6%) had equivocal, and 2 (6.5%) had normal functional C1 INH according to the ELISA method. In the 14 newly diagnosed relatives, all had low functional C1 INH according to the chromogenic method, whereas 11 (78.5%) had low and 3 (21.4%) had equivocal results according to the ELISA method. CONCLUSION: Despite the apparent discordance in the ELISA and chromogenic assays in a small number of patients, both were useful in measuring functional C1 INH. To establish the diagnosis of HAE due to C1 INH deficiency, functional C1 INH results should be interpreted in combination with family and clinical history, and with other complement tests.
Authors: Christian Drouet; Alberto López-Lera; Arije Ghannam; Margarita López-Trascasa; Sven Cichon; Denise Ponard; Faidra Parsopoulou; Hana Grombirikova; Tomáš Freiberger; Matija Rijavec; Camila L Veronez; João Bosco Pesquero; Anastasios E Germenis Journal: Front Allergy Date: 2022-03-31
Authors: Pedro Giavina-Bianchi; Luisa Karla Arruda; Marcelo V Aun; Regis A Campos; Herberto J Chong-Neto; Rosemeire N Constantino-Silva; Fátima R Fernandes; Maria F Ferraro; Mariana P L Ferriani; Alfeu T França; Gustavo Fusaro; Juliana F B Garcia; Shirley Komninakis; Luana S M Maia; Eli Mansour; Adriana S Moreno; Antonio A Motta; João B Pesquero; Nathalia Portilho; Nelson A Rosário; Faradiba S Serpa; Dirceu Solé; Priscila Takejima; Eliana Toledo; Solange O.R Valle; Camila L Veronez; Anete S Grumach Journal: Clinics (Sao Paulo) Date: 2018-05-03 Impact factor: 2.365