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2017 ; 12
(1
): 55
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Clinical characteristics and real-life diagnostic approaches in all Danish
children with hereditary angioedema
#MMPMID28302171
Aabom A
; Andersen KE
; Fagerberg C
; Fisker N
; Jakobsen MA
; Bygum A
Orphanet J Rare Dis
2017[Mar]; 12
(1
): 55
PMID28302171
show ga
BACKGROUND: With a potentially early onset, hereditary angioedema (HAE) requires
special knowledge also in infancy and early childhood. In children from families
with HAE, the diagnosis should be confirmed or refuted early, which can be
difficult. Studies of childhood HAE and the diagnostic approaches are limited.
Our aim was to investigate the entire Danish cohort of children with HAE and
non-HAE children of HAE patients for diagnostic approaches and clinical
characteristics. RESULTS: We included 41 children: 22 with HAE and 19 non-HAE. Of
the HAE children, 14 were symptomatic-median age at onset was 4 [1-11] years. The
first attack was peripheral in 8/14 children and abdominal in 6/14 children, i.e.
no one had their first attacks in the upper airways. Most children had less than
one attack per month. All of the symptomatic children had been treated with
tranexamic acid and/or C1 inhibitor concentrate. Unlike in other countries,
androgens were not used in our pediatric cohort. Home therapy with C1 inhibitor
concentrate was established in 9 cases: 6 children were trained in
self-administration and 3 children were treated by parents. Of the children, 10
had been diagnosed by symptoms, including 3 without family history-median age of
diagnosis among these children was 5.35 [2-13.2] years. In 31 children, HAE was
diagnosed or refuted before symptoms by blood samples. In 23 of these children,
complement values were investigated, and in 9 cases genetic testing was added to
the complement measurements. In 8 children recently investigated, genetic testing
was first choice. Cord blood was used for complement measurements in 9 children
and for genetic testing in 4 children. Results of complement measurements were
equivocal in several cases, especially in the cord blood samples, and the
sensitivity of low complement C4 for the diagnosis of HAE was 75%. CONCLUSIONS:
We investigated clinical characteristics in all Danish children with HAE. The
rate of home therapy was high and androgens had been avoided. Complement values
were often equivocal, especially in cord blood samples. Consequently, we have
changed diagnostic practice to early genetic testing in children where the family
mutation is known.