Hereditary angioedema as a disease of different clinical courses and difficult diagnosis, particularly in children – a case report and a literature review

Aneta Krogulska; Dorota Lewandowska; Hanna Ludwig; Anna Dąbrowska; Agnieszka Kowalczyk

doi:10.5114/ada.2021.106249

eISSN: 2299-0046
ISSN: 1642-395X

Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii

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Letter to the Editor

Hereditary angioedema as a disease of different clinical courses and difficult diagnosis, particularly in children – a case report and a literature review

Aneta Krogulska

¹

,

Dorota Lewandowska

¹

,

Hanna Ludwig

¹

,

Anna Dąbrowska

²

,

Agnieszka Kowalczyk

¹

Department of Paediatrics, Allergology and Gastroenterology, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland
Department of Paediatric Haematology and Oncology, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland

Adv Dermatol Allergol 2021; XXXVIII (6): 1118-1121

DOI: https://doi.org/10.5114/ada.2021.106249

Online publish date: 2022/01/07

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AMA

Krogulska A, Lewandowska D, Ludwig H, Dąbrowska A, Kowalczyk A. Hereditary angioedema as a disease of different clinical courses and difficult diagnosis, particularly in children – a case report and a literature review. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii. 2021;38(6):1118-1121. doi:10.5114/ada.2021.106249.

APA

Krogulska, A., Lewandowska, D., Ludwig, H., Dąbrowska, A.,  & Kowalczyk, A. (2021). Hereditary angioedema as a disease of different clinical courses and difficult diagnosis, particularly in children – a case report and a literature review. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii, 38(6), 1118-1121. https://doi.org/10.5114/ada.2021.106249

Chicago

Krogulska, Aneta, Dorota Lewandowska, Hanna Ludwig, Anna Dąbrowska,  and Agnieszka Kowalczyk. 2021. "Hereditary angioedema as a disease of different clinical courses and difficult diagnosis, particularly in children – a case report and a literature review". Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii 38 (6): 1118-1121. doi:10.5114/ada.2021.106249.

Harvard

Krogulska, A., Lewandowska, D., Ludwig, H., Dąbrowska, A.,  and Kowalczyk, A. (2021). Hereditary angioedema as a disease of different clinical courses and difficult diagnosis, particularly in children – a case report and a literature review. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii, 38(6), pp.1118-1121. https://doi.org/10.5114/ada.2021.106249

MLA

Krogulska, Aneta et al. "Hereditary angioedema as a disease of different clinical courses and difficult diagnosis, particularly in children – a case report and a literature review." Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii, vol. 38, no. 6, 2021, pp. 1118-1121. doi:10.5114/ada.2021.106249.

Vancouver

Krogulska A, Lewandowska D, Ludwig H, Dąbrowska A, Kowalczyk A. Hereditary angioedema as a disease of different clinical courses and difficult diagnosis, particularly in children – a case report and a literature review. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii. 2021;38(6):1118-1121. doi:10.5114/ada.2021.106249.

Hereditary angioedema (HAE) is a rare genetic disease with potentially fatal consequences [1]. Its estimated occurrence ranges from 1 : 10,000 to 1 : 50,000 [2]. A few types of HAE have been differentiated. HAE types 1 and 2 are most common, with depleted C1 inhibitor esterase (C1-INH) in serum or its dysfunction caused by a mutated SERPING1 gene [3]. The illness is mainly inherited through autosomal dominance, with 20–25% of cases caused by de novo mutation [4]. C1-INH, a member of the serpin group proteins, is a natural inhibitor of the initial phase of the complement cascade. Disrupting its concentration or function causes uncontrolled bradykinin production and accumulation, due to non-physiological activation of the complement system, the coagulation pathway, fibrinolysis and kallikrein cascade. When bound to its specific type 2 receptors, bradykinin induces a rapid increase in subcutaneous and submucosal blood vessel permeability, manifested as recurrent episodes of subcutaneous and submucosal tissue oedema.

Hereditary angioedema as a disease of different clinical courses and difficult diagnosis, particularly in children – a case report and a literature review

Aneta Krogulska 1 , Dorota Lewandowska 1 , Hanna Ludwig 1 , Anna Dąbrowska 2 , Agnieszka Kowalczyk 1

Aneta Krogulska

¹

,

Dorota Lewandowska

¹

,

Hanna Ludwig

¹

,

Anna Dąbrowska

²

,

Agnieszka Kowalczyk

¹