eISSN: 2299-0046
ISSN: 1642-395X
Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii
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SCImago Journal & Country Rank
6/2021
vol. 38
 
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abstract:
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

1.
Department of Paediatrics, Allergology and Gastroenterology, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland
2.
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
Online publish date: 2022/01/07
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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.
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