Angioedema due to acquired C1-inhibitor deficiency without hematological condition: a multicenter French cohort study of 34 patients.

in The journal of allergy and clinical immunology. In practice by Romain Stammler, Federica Defendi, Magali Aubineau, Beatrice Bibes, Isabelle Boccon-Gibod, Laurence Bouillet, Yoann Crabol, Marie Caroline Dalmas, Claire de Moreuil, Aurelien Delluc, Claire Dingremont, Aurelie Du-Thanh, Jerome Hadjadj, Pierre-Yves Jeandel, Galith Kalmi, Marion Lacoste, Ludovic Martin, Chloé Mc Avoy, Claire Blanchard-Delaunay, Marie Caroline Taquet, Olivier Fain, Delphine Gobert

TLDR

  • The study analyzed the clinical and biological features of patients with acquired C1-inhibitor deficiency without underlying hematological conditions, finding differences compared to patients with lymphoma-associated AAE-C1-INH.

Abstract

Angioedema (AE) due to acquired C1-inhibitor deficiency (AAE-C1-INH) is a rare disease associating recurrent edema of 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. To analyze specific features of patients with AAE-C1-INH without hematological condition METHODS: A multicenter retrospective cohort study of patients with AAE-C1-INH without hematological condition included from January 1999 to May 2024 in the French national CREAK registry; the clinical and biological characteristics of patients were detailed, then compared to patients with AAE-C1-INH associated with lymphoid hemopathies or monoclonal gammopathy. 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; 26 (76%) displayed anti-C1-INH antibodies. After a median follow-up of 65 months, 4 (12%) patients were in spontaneous complete remission of angioedema; 15 (44%) were in complete response under long-term prophylactic treatment. Comparatively to 75 patients with lymphoma associated-AAE-C1-INH, patients with AAE-C1-INH without 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 AAE-C1-INH without hematological condition patients were similar to those of 30 monoclonal gammopathy associated-AAE-C1-INH patients. AAE-C1-INH without hematological condition display 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 angioedema attacks among these patients.

Overview

  • The study aimed to analyze the specific features of patients with acquired C1-inhibitor deficiency (AAE-C1-INH) without underlying hematological conditions.
  • A retrospective cohort study was conducted on 34 patients with AAE-C1-INH without hematological condition from the French national CREAK registry, comparing their clinical and biological characteristics to patients with AAE-C1-INH associated with lymphoid hemopathies or monoclonal gammopathy.
  • The primary objective was to identify the clinical and biological features of AAE-C1-INH without hematological condition and to compare them with those of patients with AAE-C1-INH due to lymphoma or monoclonal gammopathy.

Comparative Analysis & Findings

  • Patients with AAE-C1-INH without hematological condition had a higher incidence of anti-C1-INH antibodies compared to those with lymphoma-associated AAE-C1-INH.
  • These patients received more frequent symptomatic or prophylactic treatment and had a lower remission rate at last follow-up compared to patients with lymphoma-associated AAE-C1-INH.
  • Clinical and biological features of AAE-C1-INH without hematological condition patients were similar to those of patients with monoclonal gammopathy-associated AAE-C1-INH.

Implications and Future Directions

  • The findings suggest that AAE-C1-INH without hematological condition has a different clinical and biological presentation from lymphoma-associated AAE-C1-INH.
  • Long-term prophylaxis seems to be effective in preventing angioedema attacks among these patients, unlike rituximab.
  • Future studies could investigate the optimal treatment strategy for AAE-C1-INH without hematological condition, including the use of rituximab and other immunosuppressive therapies.
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