hereditary angioedemas
Hereditary angioedema (HAE) is an autosomal dominant disorder characterized by episodic local subcutaneous edema and submucosal edema involving the upper respiratory and gastrointestinal tracts.
Hereditary angioedema (HAE) is characterized clinically by recurrent acute skin swelling, abdominal pain, and potentially life-threatening laryngeal edema.
Three forms of HAE have been described. The classic forms, HAE types I and II, occur as a consequence of mutations in the C1-inhibitor gene.
In contrast to HAE types I and II, HAE type III has been observed exclusively in women, where it appears to be correlated with conditions of high estrogen levels?for example, pregnancy or the use of oral contraceptives.
Tyes
hereditary angioedema type 1 (HAE I)
hereditary angioedema type 2 (HAE II
hereditary angioedema type 3 (HAE III) (germline mutations in coagulation factor XII (Hageman factor) (MIM.610619))
In type I, representing 85% of patients, serum levels of C1NH are less than 35% of normal.
In type II, the levels are normal or elevated, but the protein is nonfunctional. The two types are clinically indistinguishable.
Eiology
hereditary angioedema is caused by mutation in the C1 inhibitor gene (C1NH) (MIM.606860).
Associations
benign or malignant B-cell lymphoproliferative disorders
- chronic lymphocytic leukemia
- multiple myeloma
essential cryoglobulinemia
References
Cichon S, Martin L, Hennies HC, Müller F, Van Driessche K, Karpushova A, Stevens W, Colombo R, Renné T, Drouet C, Bork K, Nöthen MM. Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am J Hum Genet. 2006 Dec;79(6):1098-104. PMID: 17186468