Abstract
BackgroundHAE with normal C1 inhibitor (HAE-nC1-INH) has been identified as a bradykinin mediated angioedema. Estrogens are one of the main trigger factors. Pregnancy in HAE with C1 inhibitor deficiency showed variable course, however, few reports are available for HAE-nC1-INH. We evaluated the course of pregnancies in women diagnosed with HAE-nC1-INH.MethodsWomen with diagnosis of HAE-nC1-INH according to the following criteria: clinical manifestations similar to HAE-C1-INH, normal biochemical evaluation and family history were included. A questionnaire about pregnancies was applied after consent. Genetic evaluation for known mutations was performed in all patients.ResultsA total of 45 pregnancies occurring in 26 HAE-nC1-INH patients were evaluated (7/26 patients with F12 variant). Spontaneous abortion was reported in 8/45 (17.8%) pregnancies. Onset of attacks started before the pregnancy in 18/26 patients; during the pregnancy in 2/26; and after the pregnancy in 6/26. HAE attacks occurred in 24/37 pregnancies (64,7%): during the 1st trimester in 41.7%; 2nd trimester in 12.5%; 3rd trimester in 20.8%; 1st and 3rd trimesters in 4.2% and during the whole pregnancy in 20.8%. Among 15/18 patients who had attacks before pregnancy, symptoms persisted with worsening in 9/15; improvement in 4/15; no change in 1/15, and no response in 1/15.ConclusionsThe occurrence of abortion in HAE-nC1-INH was similar to the expected for not affected women. The 1st trimester of the pregnancy was more symptomatic for HAE-nC1-INH women. Considering the strong relevance of estrogens in HAE-nC1-INH, pregnancy could worsen the course of disease.
Highlights
Hereditary angioedema (HAE) is a rare disease with autosomal dominant inheritance, characterized by recurrent episodes of subcutaneous and sub-mucosal edema attacks
Genetic variants in the genes coding for Coagulation Factor XII (FXII), plasminogen, angiopoetin 1, kininogen 1, myoferlin, and heparan sulfatase have been described in HAE-nC1-INH patients; a subset of patients remain who do not have variants identified, a condition designated as HAE-unknown (HAE-U) [4]
Genetic tests looking for variants in F12, PLG and angiopoetin 1 (ANGPT1) genes were performed in all HAE-nC1-INH
Summary
Hereditary angioedema (HAE) is a rare disease with autosomal dominant inheritance, characterized by recurrent episodes of subcutaneous and sub-mucosal edema attacks. HAE can be classified in HAE with C1 inhibitor deficiency (HAE-C1-INH) or HAE with normal C1 inhibitor (HAE-nC1-INH) [1]. In both cases, angioedema occurs due to excessive activation of the plasma contact system, leading to increased levels of bradykinin and, an increase in vascular permeability and extravasation of fluids to the extravascular environment [2]. HAE-nC1-INH was first described in 2000 after the observation of angioedema without wheals affecting several women in the same family [3]. HAE with normal C1 inhibitor (HAE-nC1-INH) has been identified as a bradykinin mediated angioedema. Pregnancy in HAE with C1 inhibitor deficiency showed variable course, few reports are available for HAE-nC1-INH. We evaluated the course of pregnancies in women diagnosed with HAE-nC1-INH
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