A case of hereditary angioedema due to C1-inhibitor deficiency with recurrent abdominal pain diagnosed 40 years after the occurrence of the initial symptom

Daisuke Honda,Yasuhiko Tomino,Keiichi Iwanami,Yusuke Suzuki,Isao Ohsawa,Hisaki Rinno

doi:10.1007/s12328-021-01338-1

Abstract

Hereditary angioedema due to C1-inhibitor deficiency (HAE-C1-INH) is a rare disease, which induces an acute attack of angioedema mediated by bradykinin. HAE-C1-INH can cause serious abdominal pain when severe edema develops in the gastrointestinal tract. However, because it takes a long time, 13.8 years on average in Japan, from the occurrence of the initial symptom to the diagnosis due to low awareness of the disease, undiagnosed HAE-C1-INH patients sometimes undergo unnecessary surgical procedures for severe abdominal pain. We herein present a 56-year-old patient with HAE-C1-INH, who underwent numerous abdominal operations. He frequently needed hospitalization with the administration of opioid due to severe abdominal pain. However, after he was accurately diagnosed with HAE-C1-INH at 55 years of age, he could start self-administration for an acute attack with icatibant, a selective bradykinin B2 receptor antagonist. Consequently, he did not need hospitalizing for ten months after the beginning of the treatment. A series of an accurate diagnosis and appropriate treatment for HAE-C1-INH improved his quality of life. Thus, HAE-C1-INH should be considered, when we meet patients with unidentified recurrent abdominal pain. This case highlights significance of an early diagnosis and appropriate treatment for HAE-C1-INH.

Highlights

Hereditary angioedema due to C1-inhibitor (C1-INH) deficiency (HAE-C1-INH) can produce excess bradykinin in the kallikrein–kinin system, unpredictably and recurrently inducing acute subcutaneous and/or submucosal angioedema [1,2,3]
Diagnosis of HAE-C1-INH from the occurrence of the initial symptoms is unacceptably delayed for an average of 8.5 years in the world, and 13.8 years in Japan, mainly due to low awareness of the disease [7, 11]
Its symptoms including abdominal pain overlap with those of other forms of angioedema and gastroenterological diseases, which can lead to misdiagnosis [12]

Summary

Introduction

Hereditary angioedema due to C1-inhibitor (C1-INH) deficiency (HAE-C1-INH) can produce excess bradykinin in the kallikrein–kinin system, unpredictably and recurrently inducing acute subcutaneous and/or submucosal angioedema [1,2,3]. Administration of opioids was simultaneously begun for removal of severe abdominal pain from 46 years of age, and he regularly visited a hospital for the treatment He experienced upper respiratory tract edema 4 times, at 48, 49, and 53 years of age, and priapism twice, at 30 s and 53 years of age. 40 years after the onset of the initial symptom, he was diagnosed as having HAE-C1-INH His physician prescribed attenuated androgens for long-term prophylaxis and began administration of plasma-derived human C1-INH concentrate (Berinert P®, CSL Behring, King of Prussia, PA, USA) 1000U for an acute attack, which was effective only for a short period; opioid administration was restarted for recurrent severe abdominal pain. We reconfirmed that the patient had HAE-C1INH through laboratory examinations (C1-INH function level: < 25.0%), serum C4 and CH50 levels were elevated to the normal values by the previously prescribed

Discussion

Findings

Compliance with ethical standards