Diagnostic and therapeutic problems associated with hereditary deficiency of the C1 esterase inhibitor

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Abstract
Six patients in a family with a history of hereditary angioedema reported swelling of the extremities and recurrent abdominal pain occurring spontaneously or after trauma. Attacks of edema involving the airways, the greatest danger with this disorder, were present only in 1 case. This autosomal dominant disease is due to deficient activity of the inhibitor of the 1st component of complement [C1]. Low levels of C4 and absence of C1 esterase inhibitor confirm the diagnosis. Two asymptomatic cases with the appropriate biochemical abnormality are reported in this study. For short term prophylaxis of attacks (before surgery especially), fresh frozen plasma is used, or better still, C1 esterase inhibitor. For long term prophylaxis of attacks, antifibrinolytic and hormonal drugs are used: in 2 cases, good results were obtained with methyltestosterone after failure of tranexamic acid.