Pediatric angioedema: Essential features and preliminary results from the Hereditary Angioedema Global Registry in Italy

Cancian, Mauro; Perego, Francesca; Senter, Riccardo; Arcoleo, Francesco; Pasquale, Tiziana De; Zoli, Alessandra; Cicardi, Marco; Zanichelli, Andrea

doi:10.1111/pai.13170

Cited by 6 publications

(5 citation statements)

References 11 publications

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“…The median delay in the diagnosis was 3 years in our study, which is considerably lower than the value described in the literature (median of 8.5 years) ( 9 ). During the surveillance period, 33% of our patients remained asymptomatic; a similar percentage of asymptomatic children was found in an Italian survey as well ( 10 ).…”

Section: Discussionsupporting

confidence: 86%

Diagnosing Pediatric Patients With Hereditary C1-Inhibitor Deficiency—Experience From the Hungarian Angioedema Center of Reference and Excellence

et al. 2022

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BackgroundHereditary 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.MethodsWe 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.ResultsFrom 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.DiscussionThe 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.

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Section: Discussionsupporting

confidence: 86%

Diagnosing Pediatric Patients With Hereditary C1-Inhibitor Deficiency—Experience From the Hungarian Angioedema Center of Reference and Excellence

et al. 2022

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“…These data directly support the immediate safety of pdC1INH during pregnancy as reported by evidence from the literature ( 23 , 26 ). At the time of the survey study, the occurrence of a definite C1INH-HAE diagnosis had occurred at a lower rate among pdC1INH-exposed than unexposed neonates, resulting in a lower prevalence of C1INH-HAE in the first group of babies ( 32 – 34 ). The reason was related to the younger age of the C1INH-HAE women who underwent pdC1INH during pregnancy and, therefore, the younger age of their children.…”

Section: Discussionmentioning

confidence: 99%

Pregnancy in women with Hereditary Angioedema due to C1-inhibitor deficiency: Results from the ITACA cohort study on outcome of mothers and children with in utero exposure to plasma-derived C1-inhibitor

et al. 2022

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BackgroundIn women with Hereditary Angioedema (HAE) due to C1-inhibitor (C1INH) deficiency (C1INH-HAE), pregnancy counseling and treatment can be challenging. Despite the evidence of the immediate favorable outcome and safety of plasma-derived (pd)C1INH concentrate, there are no data regarding any difference among women who underwent or not pdC1INH during pregnancy or on children with in utero exposure to pdC1INH. The present interview study aimed at analyzing outcome of C1INH-HAE mothers and children according to pdC1INH-exposure during pregnancies.MethodsC1INH-HAE women who experienced at least 1 pregnancy were included from seven centers of the Italian Network for Hereditary and Acquired Angioedema (ITACA). The interview study retrospectively analyzed pregnancies who underwent (group 1) or not (group 2) pdC1INH. The overall goals of the study included immediate and long-term outcomes, in terms of outcomes in the time interval between pregnancy and survey.ResultsA total of 168 pregnancies from 87 included women were analyzed. At term delivery (>37 gestation-week, GW) has been registered in 73.8% of cases, while spontaneous abortion (SA) occurred in 14.2% of cases with a mean GW 7 ± 2. The group 1 including pdC1INH-treated pregnancies comprised a third of the cohort (51/168, time interval 1.5 ± 10.4 yrs), while the group 2 represented 69.6% (117/168, time interval 32.8 ± 14 yrs). The same prevalence of SA occurred when comparing group 1 (11.7%) with group 2 (15.4%) with a similar GW at SA. The group 1 was older at the pregnancy time and younger at the interview than the group 2 (P < 0.01 for both); moreover, the group 1 showed a higher prevalence of cesarean delivery (P < 0.0001). The overall prevalence of obstetrical syndromes was similar between two groups: however, gestational diabetes was described only in pdC1INH-untreated pregnancies. In utero pdC1INH-exposed children (n = 45) did not show differences compared with unexposed ones (n = 99) in neonatal short-term outcomes.ConclusionThrough appropriate management and counseling, most of C1INH-HAE women undergo successful pregnancy and delivery. For pregnant C1INH-HAE women being treated with pdC1INH, our findings are reassuring and might lead to an improvement of both the knowledge about treatments and the experience of HAE itself.

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“…A global registry for HAE permits collection of valuable data from many patients affected by this rare disease across countries and cultures. The implementation of this registry was possible thanks to the first initiative of the Italian Network for C1-INH-HAE (ITACA) established in 2012, which in 2018 decided to expand its data collection framework to other European countries: Greece, Hungary, France, Romania [ 18 ]. The first attempt to form an European HAE registry was in 2002, involving centers from Italy, Germany, Hungary, Denmark, France, Spain, the UK, Norway, Poland, and Switzerland [ 14 ].…”

Section: Discussionmentioning

confidence: 99%

The Global Registry for Hereditary Angioedema due to C1-Inhibitor Deficiency

Zanichelli

Farkas

Bouillet

et al. 2021

Clinic Rev Allerg Immunol

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Hereditary angioedema (HAE) is a rare condition, mostly due to genetic deficiency of complement C1 inhibitor (C1-INH). The rarity of HAE impedes extensive data collection and assessment of the impact of certain factors known to affect the course of this disabling and life-threatening disease. Establishing a global registry could assist to overcome such issues and provides valuable patient data from different countries. The HAE Global Registry is a disease-specific registry, with web-based electronic support, where data are provided by physicians and patients through a dedicated application. We collected data between January 1, 2018, and August 31, 2020. Data on 1297 patients from 29 centers in 5 European countries were collected. At least one attack was recorded for 497 patients during the study period. Overall, 1182 patients were diagnosed with HAE type 1 and 115 with type 2. At the time of database lock, 389 patients were taking long-term prophylactic medication, 217 of which were on danazol. Most recorded attacks affected the abdomen, were generally moderate in severity, and occurred in patients who were not on prophylactic treatment (70.6%, 6244/8848). The median duration of attacks was 780 min (IQR 290–1740) in patients on prophylactic medication and 780 min (IQR 300–1920) in patients not on continuous prophylactic medication. In conclusion, the establishment of a registry for C1-INH-HAE allowed collection of a large amount of data that may help to better understand the clinical characteristics of this disease. This information may enhance patient care and guide future therapeutic decisions.

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Pediatric angioedema: Essential features and preliminary results from the Hereditary Angioedema Global Registry in Italy

Cited by 6 publications

References 11 publications

Diagnosing Pediatric Patients With Hereditary C1-Inhibitor Deficiency—Experience From the Hungarian Angioedema Center of Reference and Excellence

Diagnosing Pediatric Patients With Hereditary C1-Inhibitor Deficiency—Experience From the Hungarian Angioedema Center of Reference and Excellence

Pregnancy in women with Hereditary Angioedema due to C1-inhibitor deficiency: Results from the ITACA cohort study on outcome of mothers and children with in utero exposure to plasma-derived C1-inhibitor

The Global Registry for Hereditary Angioedema due to C1-Inhibitor Deficiency

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