Open AccessManagement of hereditary angioedema type I and homozygous MTHFR mutation during pregnancy
Author(s) -
Amanda Ribeiro Batlle,
Ana Paula Possar do Carmo,
Nirelcio Galao,
Anete Sevciovic Grumach
Publication year - 2021
Publication title -
allergologia et immunopathologia
Language(s) - English
Resource type - Journals
eISSN - 1578-1267
pISSN - 0301-0546
DOI - 10.15586/aei.v49i4.57
Subject(s) - medicine , hereditary angioedema , methylenetetrahydrofolate reductase , thrombophilia , pregnancy , angioedema , c1 inhibitor , gestation , obstetrics , gastroenterology , thrombosis , surgery , immunology , pediatrics , genotype , genetics , biology , gene
Hereditary angioedema (HAE) is an autosomal dominant disease, characterized by edemaattacks resulting from quantitative and/or functional deficiency of the C1 inhibitor (C1-INH),which acts in controlling the complement, coagulation, fibrinolysis, and contact systems. Theexacerbation of these systems results in decreased circulating levels of kallikrein and conversionof bradykinin. In addition, thrombophilia is related to the deficiency of methylenetetrahydrofolatereductase (MTHFR) enzyme, causing an increase in homocysteine, accumulationof atheromatous plaques, and arterial and venous thrombosis. The association of these conditionsin related systems brings greater clinical risks to the patient. We report a female patient,aged 23 years, with HAE and homozygous MTHFR mutation, G2A1, carrier of HAE with crisessince early childhood. The first pregnancy terminated with abortion due to gestational sacdetachment. In the second pregnancy, at 5.1 weeks, she had bleeding and partial detachmentof gestational sac. Thrombophilia tests confirmed homozygosity for the MTHFR enzyme. At thebeginning of gestation, she had attacks of angioedema treated with fresh plasma, and at oneoccasion, she received treatment with a plasma-derived C1-INH esterase. During breastfeeding,she received prophylaxis with plasma-derived C1-INHdp. The course of HAE during pregnancyworsened. There are studies that discuss the occurrence of abortion due to attacks ofangioedema. The patient’s disease was associated with a homozygous MTHFR mutation, whichprobably caused the miscarriage. The control of both clinical situations is important for thesuccess of pregnancy, so a combined action plan between obstetricians and HAE treatmentspecialists is essential.