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A Case of Type 2 Hereditary Angioedema With SERPING1 Mutation

 Da Woon Sim  ;  Kyung Hee Park  ;  Jae-Hyun Lee  ;  Jung-Won Park 
 Allergy Asthma & Immunology Research, Vol.9(1) : 96-98, 2017 
Journal Title
 Allergy Asthma & Immunology Research 
Issue Date
Hereditary angioedema ; SERPING1 gene mutation ; Type 2
Hereditary angioedema is a disease of congenital deficiency or functional defect in the C1 esterase inhibitor (C1-INH) consequent to mutation in the SERPING1 gene, which encodes C1-INH. This disease manifests as recurrent, non-pitting, non-pruritic subcutaneous, or submucosal edema as well as an erythematous rash in some cases. These symptoms result from the uncontrolled localized production of bradykinin. The most commonly affected sites are the extremities, face, gastrointestinal tract, and respiratory system. When the respiratory system is affected by hereditary angioedema, swelling of the airway can restrict breathing and lead to life-threatening obstruction. Herein, we report a case of a 24-year-old woman with type 2 hereditary angioedema who presented with recurrent episodic abdominal pain and swelling of the extremities. She had no family history of angioedema. Although her C4 level was markedly decreased (3.40 mg/dL; normal range: 10-40 mg/dL), she presented with a very high C1-INH level (81.0 mg/dL; normal range: 21.0-39.0 mg/dL) and abnormally low C1-INH activity (less than 25%; normal range: 70%-130%). The SERPING1 gene mutation was confirmed in this patient. She was treated with prophylactic tranexamic acid, as needed, and subsequently reported fewer and less severe episodes. To our knowledge, this is the first reported case of type 2 hereditary angioedema in Korea that was consequent to SERPING1 mutation and involved a significantly elevated level of C1-INH as well as a low level of C1-INH activity.
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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
박경희(Park, Kyung Hee) ORCID logo https://orcid.org/0000-0003-3605-5364
박중원(Park, Jung Won) ORCID logo https://orcid.org/0000-0003-0249-8749
심다운(Sim, Da Woon)
이재현(Lee, Jae Hyun) ORCID logo https://orcid.org/0000-0002-0760-0071
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