Estrogen-dependent inherited angioedema
Section snippets
Background: hereditary angioedema, the C1 inhibitor gene, and the effects of sex hormones
Classic forms of hereditary angioedema are characterized by recurrent episodes of angioedema which may involve the limbs, face, airway or gastrointestinal tract [1], [2]. Symptoms occur because of inadequate C1 inhibitor function, which ultimately results in the generation of kinins (bradykinin and/or complement-derived kinin-like peptide), and possibly other vasoactive substances, leading to angioedema [3], [4].
Clinically, two broad categories of HAE are recognized: type I, in which there are
Estrogen-dependent inherited angioedema
The discovery of a family with typical symptoms of angioedema restricted to conditions of high estrogen levels [28] afforded a unique opportunity to investigate the effects of this hormone on the generation of angioedema. The index family, consisting of members of three generations, presented with features identical to classic HAE, but occurring only during pregnancy, use of oral contraceptives, or use of estrogen replacement therapy. Episodes of angioedema affected the face, extremities,
Conclusions
The discovery of estrogen-dependent and estrogen-associated inherited angioedema is an important milestone. A better understanding of the mechanisms operative in estrogen-dependent inherited angioedema will have important implications for our affected patients regarding both diagnosis and treatment. In addition, a better understanding of the processes involved in the estrogen-dependent and estrogen-associated forms of angioedema may lead to additional insights and/or treatment options for
References (31)
- et al.
A biochemical abnormality in hereditary angioneurotic edema: absence of serum inhibitor of C′1-esterase
Am. J. Med.
(1963) - et al.
The effect of danazol on the production of C1inhibitor in the guinea pig
Complement
(1984) - et al.
Rapid fibrinolysis, augmented Hageman factor (factor XII) titres and decreased C1 esterase inhibitor titres in women taking oral contraceptives
J. Lab. Clin. Med.
(1980) - et al.
Hereditary angioedema with normal C1-inhibitor activity in women
Lancet
(2000) - et al.
Reply (Hereditary angioedema type III: an additional French pedigree with autosomal dominant transmission)
J. Allergy Clin. Immunol.
(2001) - et al.
Hereditary angioedema type III: an additional French pedigree with autosomal dominant transmission
J. Allergy Clin. Immunol.
(2001) - et al.
Hereditary angioneurotic edema: a clinical survey
Pediatrics
(1966) - et al.
Hereditary angioedema: the clinical syndrome and its management
Ann. Int. Med.
(1976) - et al.
Prekallikrein activation and high-molecular weight kininogen consumption in hereditary angioedema
New Engl. J. Med.
(1983) - et al.
Angioedema induced by a peptide derived from complement component C2
J. Exp. Med.
(1988)