Factor XII mutations, estrogen-dependent inherited angioedema, and related conditions
نویسنده
چکیده
The clinical, biochemical and genetic features of the conditions known as estrogen-dependent inherited angioedema, estrogen-associated angioedema, hereditary angioedema with normal C-1 inhibitor, type III angioedema, or factor XII angioedema are reviewed. Discussion emphasizes pathogenesis, diagnosis, and management.
منابع مشابه
Type-III hereditary angioedema resolved by surgery
Background In classic hereditary angioedema, inadequate C1-inhibitor (C1-INH) failing to restrict factor-XII activity leads to increased production of bradykinin, a potent vasodilator and mediator of angioedema. Hereditary angioedema with normal C1-INH (Type-III) manifests with sporadic recurrent angioedema but normal C1-INH concentration and activity. Here, bradykinin accumulation appears depe...
متن کاملHereditary angioedema type III (estrogen-dependent) report of three cases and literature review*
In this article, three cases of hereditary angioedema (HAE) type III (estrogen-dependent or with normal C1 inhibitor) are reported. The HAE was initially described in women of the same family in association with high-leveled estrogenic conditions such as the use of oral contraceptives and pregnancy. There is no change in the C1 inhibitor as happens in other types of hereditary angioedema, and m...
متن کاملCoagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 Inhibitor.
BACKGROUND Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) is a rare disorder. Mutations of the gene encoding coagulation factor XII have been identified in a subset of patients with this condition. Our aim was to investigate mutations in the F12 gene in patients with HAE with normal C1-INH from Brazil. METHODS We studied 5 Brazilian families with index female patients who prese...
متن کاملDefective glycosylation of coagulation factor XII underlies hereditary angioedema type III.
Hereditary angioedema type III (HAEIII) is a rare inherited swelling disorder that is associated with point mutations in the gene encoding the plasma protease factor XII (FXII). Here, we demonstrate that HAEIII-associated mutant FXII, derived either from HAEIII patients or recombinantly produced, is defective in mucin-type Thr309-linked glycosylation. Loss of glycosylation led to increased cont...
متن کاملHereditary angioedema caused by missense mutations in the factor XII gene: clinical features, trigger factors, and therapy.
BACKGROUND Hereditary angioedema caused by mutations in the factor XII gene is a recently described disease entity that occurs mainly in women. It differs from hereditary angioedema caused by C1 inhibitor deficiency. OBJECTIVE To assess the clinical symptoms, factors triggering acute attacks, and treatments of this disease. METHODS Thirty-five female patients with hereditary angioedema and ...
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