A case of type 2 hereditary angioedema with SERPING1 mutation

Da Woon Sim, Kyung Hee Park, Jae Hyun Lee, Jung Won Park

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)96-98
Number of pages3
JournalAllergy, Asthma and Immunology Research
Volume9
Issue number1
DOIs
Publication statusPublished - 2017 Jan 1

Fingerprint

Hereditary Angioedema Types I and II
Complement C1 Inhibitor Protein
Mutation
Hereditary Angioedemas
Reference Values
Respiratory System
Extremities
Tranexamic Acid
Deficiency Diseases
Angioedema
Bradykinin
Korea
Exanthema
Abdominal Pain
Genes
Gastrointestinal Tract
Edema
Respiration

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Immunology
  • Pulmonary and Respiratory Medicine

Cite this

Sim, Da Woon ; Park, Kyung Hee ; Lee, Jae Hyun ; Park, Jung Won. / A case of type 2 hereditary angioedema with SERPING1 mutation. In: Allergy, Asthma and Immunology Research. 2017 ; Vol. 9, No. 1. pp. 96-98.
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A case of type 2 hereditary angioedema with SERPING1 mutation. / Sim, Da Woon; Park, Kyung Hee; Lee, Jae Hyun; Park, Jung Won.

In: Allergy, Asthma and Immunology Research, Vol. 9, No. 1, 01.01.2017, p. 96-98.

Research output: Contribution to journalArticle

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