Hereditary Angioedema with C1-inhibitor deficiency (C1-INH-HAE) is a rare disease
characterized by recurrent subcutaneous and/or submucosal edematous (HAE) episodes,
which may occur at any age. The mean age of the symptom onset is 10-12 years. Diagnostic
protocols differ by age group and family history.We retrospectively analyzed clinical
and laboratory data (C4-, C1-INH concentration and function) from 49 pediatric patients
diagnosed with C1-INH deficiency at our Angioedema Center between 2001 and 2020. Moreover,
we analyzed the connection between complement parameters and symptom onset.From the
49 pediatric patients [boy/girl: 23/26, the average age of diagnosis: 6.7 years (min:
0-max: 18.84)], the majority (36/49, 73%) was diagnosed as the result of family screening.
Of all the enrolled patients, 34% (17/49) experienced symptoms before the diagnosis.
During the observational period, 33% (16/49) of the patients remained asymptomatic,
while 33% (16/49) became symptomatic. The average age at symptom onset was 7.8 years
(min: 0.5-max: 18). Only 27% (13/49) of pediatric patients were diagnosed after referrals
to our center because of typical symptoms. From those patients diagnosed with family
screening, 4/36 experienced symptoms at or before the time of the diagnosis. In the
case of five newborns from the family screening group, umbilical cord blood samples
were used for complement testing. In the case of 3/36 patients, the first complement
parameters did not clearly support the disease, but the presence of the mutation identified
in the family verified the diagnosis. Complement results were available from 11 patients
who became symptomatic during the observational period. Complement parameters 1 year
prior to and after the onset of symptoms were compared, and significantly lower concentrations
of C1-INH (p = 0.0078) were detected after the onset of symptoms compared to the preceding
(symptom-free) period.The majority of pediatric patients were diagnosed as a result
of family screening before the onset of symptoms. Early diagnosis allows supplying
the patients with special acute treatment for HAE attacks, which may occur at any
time. Our results highlight the importance of DNA analysis in pediatric patients in
case of a known mutation in the family, and an ambiguous result of complement testing.
