Review article
https://doi.org/10.26800/LV-146-supl1-8
Hereditary angioedema in children – diagnosis and treatment
Irena Ivković-Jureković
orcid.org/0000-0001-5024-7149
*
* Corresponding author.
Abstract
Hereditary angioedema (HAE) is a rare and disabling disease for which early diagnosis and effective therapy are critical. It is characterized by recurrent and unpredictable attacks of swelling of the subcutaneous and submucosal tissues. Recurrent attacks of angioedema lead to functional impairment, reduced quality of life, while edema involving the submucosa of the upper airways may cause airway obstruction which, without treatment, may lead to suffocation and death. Hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) is a rare autosomal dominant disorder due to either deficiency (HAE type I) or dysfunction (HAE type II) of the serine protease inhibitor (serpin) C1 (C1-INH). A less common form of hereditary angioedema has normal C1 INH protein level and function (HAE-nC1-INH). Testing children from HAE affected families should be carried out as soon as possible and all offspring of an affected parent should be tested. To confirm the diagnosis of HAE-1/2, testing should be repeated in patients who have positive test. Genetic testing can help establish the diagnosis in ambiguous cases of suspected HAE and should be performed in all cases of HAE with normal C1 inhibitor. HAE therapy includes treatment of acute attacks, short-term prophylaxis and long-term prophylaxis. The goals of treatment are to achieve total control of the disease and to normalize patients’ lives.
Keywords
HEREDITARY ANGIOEDEMA; C1 INHIBITOR; CHILDREN; TREATMENT
Hrčak ID:
315820
URI
Publication date:
11.4.2024.
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