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Treatment for hereditary angioedema with normal C1‐ INH and specific mutations in the F12 gene ( HAE ‐ FXII )
Author(s) -
Bork K.,
Wulff K.,
Witzke G.,
Hardt J.
Publication year - 2017
Publication title -
allergy
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.363
H-Index - 173
eISSN - 1398-9995
pISSN - 0105-4538
DOI - 10.1111/all.13076
Subject(s) - hereditary angioedema , danazol , medicine , discontinuation , tranexamic acid , angioedema , c1 inhibitor , gastroenterology , surgery , dermatology , endometriosis , blood loss
Hereditary angioedema with normal C1 esterase inhibitor and mutations in the F12 gene ( HAE ‐ FXII ) is associated with skin swellings, abdominal pain attacks, and the risk of asphyxiation due to upper airway obstruction. It occurs nearly exclusively in women. We report our experience treating HAE ‐ FXII with discontinuation of potential trigger factors and drug therapies. The study included 72 patients with HAE ‐ FXII . Potential triggers included estrogen‐containing oral contraceptives ( eOC ), hormonal replacement therapy, or angiotensin‐converting enzyme inhibitors. Drug treatment comprised plasma‐derived C1 inhibitor (pdC1‐ INH ) for acute swelling attacks and progestins, tranexamic acid, and danazol for the prevention of attacks. Discontinuation of eOC was effective in 25 (89.3%) of 28 women and led to a reduction in the number of attacks (about 90%). After ending hormonal replacement therapy, three of eight women became symptom‐free. Three women with exacerbation of HAE ‐ FXII during intake of quinapril or enalapril had no further HAE ‐ FXII attacks after discontinuation of those drugs. Eleven women were treated with pdC1‐ INH for 143 facial attacks. The duration of the treated facial attacks (mean: 26.6 h; SD: 10.1 h) was significantly shorter than that of the previous 88 untreated facial attacks in the same women (mean: 64.1 h; SD: 28.0 h; P < 0.01). The mean reduction in attack frequency was 99.8% under progestins after discontinuing eOC (16 women), 93.8% under tranexamic acid (four women), and 100% under danazol (three women). For patients with HAE ‐ FXII , various treatment options are available which completely or at least partially reduce the number or duration of attacks.