PhD Scientific Days 2021

Budapest, 7-8 July 2021

CL_V_L: Clinical Medicine V. Lectures

Diagnosing pediatric patients with hereditary C1-inhibitor deficiency – experience from the Hungarian Angioedema Center of Reference and Excellence

Noémi Andrási 1,2,3, Zsuzsanna Balla 1,2, Beáta Visy 4, Dorottya Csuka 5,6, Lilian Varga 1 and Henriette Farkas 1

1Hungarian Angioedema Center of Reference and Excellence, Department of Internal Medicine and
Haematology, Semmelweis University, Budapest, Hungary
2School of PhD Studies, Semmelweis University, Budapest, Hungary
3 2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary
4 Heim Pál Children’s Hospital, Budapest, Hungary
5Research Laboratory, Department of Internal Medicine and Haematology, Semmelweis
University, Budapest, Hungary
6MTA-SE Research Group of Immunology and Hematology, Hungarian Academy of
Sciences and Semmelweis University, Budapest, Hungary

Text of the abstract

Background: In Hereditary Angioedema with C1-inhibitor deficiency (C1-INH-HAE), edematous attacks can occur at any age from birth. The disease is characterized by recurrent subcutaneous and/or submucosal edematous attacks. Diagnostic protocols differ by age group and family history; all include complement testing, and in some cases, DNA analysis is recommended.
Aim: Our aim was to investigate the diagnostic process and the clinical characteristics of pediatric patients diagnosed with C1-INH-HAE at the National Angioedema Center of Reference and Excellence. Moreover, to analyzed the connection between complement parameters and symptom onset.
Methods: We retrospectively analyzed clinical and laboratory data from 48 pediatric patients diagnosed with C1-INH-HAE at our Center between 2001 and 2020.
Results: From the 48 pediatric patients (average age of diagnosis: 6,7 years {min: 0-max.: 18,84}) the majority (35/48) were diagnosed as the result of family screening. From all the enrolled patients, 17/48 experienced symptoms before the diagnosis. During the observational period 16/48 of the patients were asymptomatic, while 15/48 became symptomatic. Average age at symptom onset was 8,02 years (min.: 0,5 – max.: 18). From 35/48 group, only 4/35 experienced symptoms at or before the time of the diagnosis. 13/48 patients were diagnosed after referrals to our Center because of typical symptoms. In all cases, complement testing was performed. In the case of 5/35 newborns, umbilical cord blood (UCB) samples were used. 1/5 cases, the result of the UCB sample was normal, however DNA analysis and blood serum complement testing proved the disease. In the case of 3/35 patients – diagnosed as a result of family screening – first complement parameters were normal, but gene mutation could be detected by the DNA analysis. Complement parameter data was available for 11 patients who became symptomatic during the observational period. Significantly lower concentrations of C1-INH (p=0,0078) were detected after the onset of symptoms.
Conclusion: The majority of pediatric patients are diagnosed as a result of family screening. Our results highlight the importance of DNA analysis in pediatric patients in case of known mutation and positive family history. The further reduction of C-INH levels may be in connection with the appearance of symptoms.
Supported by NKFI124557

University and Doctoral School

Semmelweis University, Doctoral School of Theoretical and Translational Medicine