Acquired angioedema due to C1-inhibitor-deficiency (AAE-C1-INH) - a bi-center retrospective study on diagnosis, course and therapy.

Acquired C1-inhibitor-deficiency (AAE-C1-INH) is a rare condition resembling hereditary angioedema (HAE), but with late onset and low C1-inhibitor (C1-INH) due to consumption potentially caused by autoimmune diseases and mainly lymphatic malignancies. Being about 10-fold rarer than HAE there is limited knowledge and no licensed therapy.To report clinical and biological data from a newly described population of 20 AAE-C1-INH-Patients assessing diagnostic delay, AAE-C1-INH:HAE-ratio, underlying conditions and therapeutic management in Germany.Retrospective data analysis of 20 patients from two angioedema-centers in southern Germany.Median age at symptoms' onset was 64 years (60% females) with predominant swellings of the face (85%) and low levels for C1-INH in almost all patients. The ratio AAE-C1-INH:HAE was 1:9.7. From symptoms' onset to diagnosis of AAE-C1-INH the median delay was 7.5 months, between AAE-C1-INH symptoms' onset and diagnosis of the underlying hematological condition (n=9) it was 4 months (median). Four patients had a history of solid neoplasm, one had a papillary thyroid carcinoma as only potential cause for AAE-C1-INH with treatment of the malignancy resulting in resolution of AAE-C1-INH. All the symptomatic patients were treated with off-label on demand Icatibant SC or C1-INH-concentrate IV, six severely affected patients needed off-label long term prophylaxis with good symptom control.AAE-C1-INH is characterized by late onset swellings mainly involving the face and low C1-INH levels. Diagnostic delay for AAE-C1-INH is further decreasing despite being about 10-fold rarer than HAE. Patients severely affected without underlying condition or no indication for treatment could benefit from off-label therapy.Copyright © 2023. Published by Elsevier Inc.

Citation

Felix Johnson, Janina Hahn, Benedikt Hofauer, Jens Greve, Barbara Wollenberg, Thomas K Hoffmann, Robin Lochbaum, Susanne Trainotti. Acquired angioedema due to C1-inhibitor-deficiency (AAE-C1-INH) - a bi-center retrospective study on diagnosis, course and therapy. The journal of allergy and clinical immunology. In practice. 2023 Sep 14

PMID: 37716525

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