Allergy Asthma Immunol Res.  2017 Jan;9(1):96-98. 10.4168/aair.2017.9.1.96.

A Case of Type 2 Hereditary Angioedema With SERPING1 Mutation

• Sim DW
• Park KH
• Lee JH
• Park JW

• KMID: 2355900
• DOI: http://doi.org/10.4168/aair.2017.9.1.96

Abstract

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.

Keyword

Hereditary angioedema; Type 2; SERPING1 gene mutation

MeSH Terms

Abdominal Pain
Angioedema
Angioedemas, Hereditary*
Bradykinin
Complement C1 Inhibitor Protein
Edema
Exanthema
Extremities
Female
Gastrointestinal Tract
Humans
Korea
Reference Values
Respiration
Respiratory System
Tranexamic Acid
Young Adult
Bradykinin
Complement C1 Inhibitor Protein
Tranexamic Acid

Figure

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  Figure The left hand of the patient. Swelling of the patient's forearm was evident on the day following an attack of angioedema (A). Her normal condition after treatment is shown for comparison (B).

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