Decription of a Hereditary Angioneurotic Edema Form in a Child

Abstract

Congenital deficiency of the C1-component inhibitor of the complement cascade, or hereditary angioneurotic edema, is a rare autosomal dominant disease due to a mutation in the human C1-esterase inhibitor. Caused by C1 deficiency unregulated cleavage of high molecular weight plasma kininogen results in excess production of a mediator with vasodilating action – bradykinin. Hereditary type 1 angioedema develops as a result of C1 inhibitor deficiency, while type 2 is caused by decreased C1 inhibitor activity. The disease manifests itself in childhood or adolescence as recurrent episodes of edema in the skin, subcutaneous fiber and mucous membranes. Localization of edemas in the submucous layer of the larynx represents a threat to life, which can lead to the development of laryngostenosis and acute respiratory failure. The article describes a case of hereditary angioneurotic edema in a girl, which manifested in early childhood. There were no great difficulties in diagnosing the disease, as patients with this pathology were already identified earlier in the family. A significant reduction in C1-inhibitor content was found in the patient, which made it possible to clarify the type of hereditary angioneurotic edema and to categorize it to type 1. A synthetic antifibrinolytic agent with the ability to block kinins and angioneurotic edemas was successfully used in the treatment and prevention of swelling attacks in the patient. The analysis of the case shows that hereditary angioneurotic edema remains a problem difficult enough for a practical doctor requiring careful history taking, assessment of disease development dynamics and performing a laboratory – genetic examination. In most cases, only differential diagnostics can give the opportunity to suspect the dangerous pathology in the patient in a timely manner which requires immediate hospitalization and providing aid adequate to the disease.