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C1 Esterase Inhibitor Deficiency
Background
C1 Inhibitor Esterase Deficiency: C1 Inhibitor Deficiency; Hereditary Angioedema; HAE
C1 esterase inhibitor deficiency causes intermittent angioedema (swelling of face and throat) and dermal swellings. Gut oedema (swelling) may cause severe abdominal pain, which may be mistaken for acute abdominal conditions such as appendicitis. Dermal swellings are deeper and larger than urticaria ('nettle rash'). They may be painful and are not itchy.
Onset of symptoms is usually in adolescence but may occur at any age. Occasionally C1 esterase inhibitor deficiency is asymptomatic (without symptoms).
