Hereditary C1-inhibitor deficiency angioedema (C1-INH-HAE) in children – practical considerations

Abstract

Hereditary angioedema is a rare, autosomal dominant, potentially life-threatening disorder usually resulting from C1-esterase deficiency or dysfunction. Clinical manifestations include unpredictable, acute, recurrent episodes of well-demarcated oedema occurring without pruritus, most commonly affecting the face, trunk, extremities, but also, due to mucosal involvement, the respiratory and gastrointestinal systems. Although oedema resolves spontaneously within 2–5 days, the skin lesions are disfiguring, painful and disrupt daily functioning, while abdominal attacks are very painful and often lead to hospital admissions and unnecessary surgery. In addition, laryngeal oedema, which affects at least half of patients, is life-threatening and, in many cases, leads to fatal asphyxia. Therefore, early diagnosis and implementation of proper therapeutic management as soon as possible are crucial. In recent years, significant advances have been made in the treatment of hereditary angioedema. Initially, only intravenous drugs administered during attacks were available in medical facilities. Patient education has allowed for home therapy. The next step was the introduction of subcutaneous injections, which were more convenient for patients. Finally, long-term prophylactic treatment, which completely relieves symptoms and allows for a normal life, has gained importance. Unfortunately, the high cost of these therapies remains a problem. This paper reviews in detail the clinical picture and differential diagnosis of the disorder, as well as modern treatment approaches, with special focus on the distinctive features in children.