PhD Scientific Days 2021

Budapest, 7-8 July 2021

CL_V_L: Clinical Medicine V. Lectures

Detailed long term follow up of a patient with acquired angioedema due to C1-inhibitor deficiency

Zsófia Pólai, Hungarian Angioedema Center of Reference and Excellence, Semmelweis University, Department of Internal Medicine and Haematology, Budapest
Zsuzsanna Balla, Hungarian Angioedema Center of Reference and Excellence, Semmelweis University, Department of Internal Medicine and Haematology, Budapest
Benedek Szabolcs, Semmelweis University, Department of Internal Medicine and Haematology, Budapest
Lilian Varga, Hungarian Angioedema Center of Reference and Excellence, Semmelweis University, Department of Internal Medicine and Haematology, Budapest
Henriette Farkas, Hungarian Angioedema Center of Reference and Excellence, Semmelweis University, Department of Internal Medicine and Haematology, Budapest

Text of the abstract

Background: Acquired angioedema (AAE) due to C1-inhibitor deficiency (C1-INH-AAE) is a very rare disease, which often appears with an underlying diseases, mainly lymphoma, monoclonal gammopathy or myeloma multiplex. It is diagnosed by complement testing and its treatment consists of the management of underlying disease and angioedema (AE) attacks.

Aim: Investigate the changes in the complement parameter profile according to the clinical course of the disease and the treatments.

Methods: For our study, we looked for a patient in the Register of the Hungarian Angioedema Center of Reference and Excellence. The measurement of the complement parameters was performed at each visit, which happened every half year.

Results: Our chosen patient was forwarded to our Center after an upper airway edema, which did not respond to antihistamine and steroid therapy and ended up with a tracheotomy. He had the results of complement testing for the past 15 years and had myeloma multiplex as an underlying disease. Before treatment for the underlying disease, the patient had decreased CH50, C1q, C4, C1-INH concentration and activity and elevated anti-C1-INH IgG and -IgM.
After the first treatment series (chemotherapy and autologous stem cell transplantation) his complement parameters got back to normal, and only several years later his results started to deteriorate. After 3 years of devolving complement values and 10 years after the first treatment series, the AE attacks recurred. Due to the frequent and serious AE attacks, the patient got another series of rituximab treatment. It resulted in the normalization of the complement values, and he had no further AE attacks.

Conclusion: In our Center, we are focusing on the long term follow-up, which can rarely be found in literature. The comparison of the laboratory results of a patient over the years instead of a cross-sectional investigation can provide valuable additional information about the disease and the status of the patient as well. The results draw attention to the recurrence of the disease already years before the reappearance of the AE attacks. Long term follow-up and investigation of the complement parameters over the years is essential in case of C1-INH-AAE patients and can help to predict the outcome of a patient’s history.

Funding: Supported by NKFI 124557.

University and Doctoral School

Semmelweis University, Doctoral School of Theoretical and Translational Medicine