Efficiency and Safety of Prophylaxis for Pregnancy Carrier of Mutation in Gene F12 Volume 8 - Issue 2

Victoria López MD PhD¹*, Gabriel Antonio Colamarco MD¹, Maria Dolores de las Marinas MD PhD², Raquel Rodríguez López MD PhD³, Daniela Duica¹ and Kiri Duke¹

• ¹Allergology Department, Denia Hospital, Alicante, Spain
• ²Allergology Department, Consorcio Hospital General Universitario, Valencia, Spain
• ³Genetics Laboratory, Consorcio Hospital General Universitario, Valencia, Spain

Received:April 20, 2023;   Published: April 27, 2023

Corresponding author:Victoria López, Specialist in Allergology (MD: Medical Doctor, PhD: Doctor), Denia Hospital, Alicante, Spain

DOI: 10.32474/JAAS.2023.08.000282

 

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Abstract

Hereditary angioedema type 3 (HAE III) is an entity with very precise clinical and molecular characteristics, whose confirmatory diagnosis is made by genetic study. In large series of patients, the recurrent mutation c.983C>A, p. (Thr328Lys) in the F12 gene coding for coagulation Factor XII (FXII) has been demonstrated. It is widely accepted that the gene expression and plasma levels of FXII are regulated by oestrogens, both endogenous and exogenous, making pregnancy the main risk factor for women carrying this and/or other alterations on this major susceptibility gene. C1 inhibitor concentrate remains the only treatment available for pregnant women with this disease. We present the case of a 34-year-old woman heterozygous carrier of the recurrent mutation of the F12 gene, who, from her pregnancy showed a worsening of the angioedema, predominantly affecting the limbs and abdomen. The establishment of long-term personalized prophylaxis with intravenous C1 inhibitor concentrate (Cinryze) controlled the angioedema crises. She also required short-term prophylaxis and prior to fetal eversion, which she passed without incident. Following the recommendations of the national and international guides, this case reaffirms the safety and efficacy of treatment with C1 inhibitor for pregnant women with hereditary angioedema and their fetuses.

Keywords:Hereditary angioedema type 3; F12 gene mutation; congenital FXII deficiency; pregnancy; prophylaxis

Abstract| Introduction| Description of the Case| Discussion| Conclusion| Conflict of Interest| Acknowledgements| References|