Normalization of C1 Inhibitor in a Patient with Hereditary Angioedema.

Hereditary angioedema is a potentially life-threatening autosomal dominant connology dition, causing attacks of angioedema due to failure to regulate bradykinin. Nearly all cases of hereditary angioedema are caused by mutations in the gene encoding Cl inhibitor, SERPINGl. Cl inhibitor is a multifunctional protein produced in the liver that regulates the kallikrein-kinin system at multiple points. An infant with genetically confirmed hereditary angioedema and low Cl inhibitor levels (but withand out previous episodes of angioedema) underwent liver tranSplantatiOn for biliary atresia, an unrelated condition. Liver transplantation led to normalization of the Cl inhibitor level and function. To our knowledge, this represents the first patient to be potentially cured of hereditary angioedema. [ABSTRACT FROM AUTHOR]