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Copyright of Paediatrics & Family Medicine / Pediatria i Medycyna Rodzinna is the property of Medical Communications Sp. z o.o. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: Hereditary angioedema (HAE) is a rare inherited autosomal dominant disease caused by deficiency or dysfunction of C1 inhibitor (C1INH). Clinical symptoms include recurrent subcutaneous and submucosal angioedema of the internal organs. Abdominal attacks affect more than 90% of patients, are often misdiagnosed and result in unnecessary surgical procedures. Aim: To analyse the utility of imaging studies (USG, CT) in patients with C1INH-HAE during an abdominal attack and remission. Material and methods: We enrolled 40 patients with type I and II HAE (30 women, 10 men; mean age 39 years). The diagnosis of C1INH-HAE was based on patient and family history, significantly reduced values of C1INH serum level and activity. Abdominal and pelvic ultrasound were performed in patients within the first 6 h of the abdominal attack and repeated during remission. Moreover, 23 cases underwent abdominal or pelvic computed tomography during acute abdominal symptoms. The most common ultrasound and CT findings showed the transient presence of a significant amount of fluid in the free abdominal cavity and intestinal oedema during the symptom progression and spontaneously disappearing during the seizure in 90% and 50% of patients, respectively. CT revealed also an enlargement of the mesenteric lymph nodes as well as a fat stranding along the bowel wall thickening. Conclusions: Ultrasound or CT imaging facilitates the diagnosis of the patient suspected of having an abdominal attack due to C1INH-HAE. They allow to identify transitional presence of an abundant fluid in the free abdominal cavity and intestinal swelling which spontaneously disappear with a symptoms attack. [ABSTRACT FROM AUTHOR]

Copyright of Polish Journal of Allergology / Alergologia Polska is the property of Termedia Publishing House and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Polish Journal of Allergology / Alergologia Polska is the property of Termedia Publishing House and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: Hereditary angioedema (HAE) is a rare inherited autosomal dominant disease caused by deficiency or dysfunction of C1 inhibitor (C1INH). Clinical symptoms include recurrent subcutaneous and submucosal angioedema of the internal organs. Abdominal attacks affect more than 90% of patients, are often misdiagnosed and result in unnecessary surgical procedures., Aim: To analyse the utility of imaging studies (USG, CT) in patients with C1INH-HAE during an abdominal attack and remission., Material and Methods: We enrolled 40 patients with type I and II HAE (30 women, 10 men; mean age 39 years). The diagnosis of C1INH-HAE was based on patient and family history, significantly reduced values of C1INH serum level and activity. Abdominal and pelvic ultrasound were performed in patients within the first 6 h of the abdominal attack and repeated during remission. Moreover, 23 cases underwent abdominal or pelvic computed tomography during acute abdominal symptoms. The most common ultrasound and CT findings showed the transient presence of a significant amount of fluid in the free abdominal cavity and intestinal oedema during the symptom progression and spontaneously disappearing during the seizure in 90% and 50% of patients, respectively. CT revealed also an enlargement of the mesenteric lymph nodes as well as a fat stranding along the bowel wall thickening., Conclusions: Ultrasound or CT imaging facilitates the diagnosis of the patient suspected of having an abdominal attack due to C1INH-HAE. They allow to identify transitional presence of an abundant fluid in the free abdominal cavity and intestinal swelling which spontaneously disappear with a symptoms attack., Competing Interests: The authors declare no conflict of interest., (Copyright: © 2022 Termedia Sp. z o. o.)

Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) type I and II is a rare and life-threatening disease caused by SERPING1 gene mutations. Previous genetic studies indicated a wide spectrum of disease-associated variants in the SERPING1 gene and often lack of correlation with patient's phenotypes. The aim of this study was to evaluate the presence, type, and localization of mutations in the SERPING1 gene in 41 Polish patients with C1-INH-HAE and their relation with case/family history, type of C1-INH-HAE, fC1-INH, age of onset, and disease severity. Sanger sequencing and MLPA method were used for detection of disease-associated variants. In 34 (82.9%) patients, mutations located in various regions of SERPING1 gene were revealed. The detected alterations in patients with C1-INH-HAE type I differed and were positioned in various exons/introns of the SERPING1 gene. The most frequent disease-associated variants appeared in exon 3 (especially in type I) and in exon 8 (type I and II). Out of 20 different disease-causing variants, 9 were not previously described. We did not find any relation between the type and location of the mutations and no type of features included in phenotype evaluation of the patients, such as case and family history, type of C1-INH-HAE, age of onset, biochemical parameters, or severity of disease., Competing Interests: The authors declare no conflict of interest., (Copyright © 2020 Termedia.)