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已发表论文
误诊为遗传性血管性水肿伴反复腹痛：一种新型 SERPING1 框移变异
Authors Xie R, Wen R, Li Y, Tan X, Qu S, Hou T, Qin J
Received 26 April 2025
Accepted for publication 24 September 2025
Published 8 October 2025 Volume 2025:18 Pages 1367—1375
DOI https://doi.org/10.2147/JAA.S536943
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 2
Editor who approved publication: Dr Luis Garcia-Marcos
Rou Xie,1 Rui Wen,1 Yueming Li,1 Xiangling Tan,2 Siyuan Qu,1 Tingting Hou,1 Jiao Qin1
1Department of Nephrology and Rheumatology, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, Changsha, Hunan, People’s Republic of China; 2Department of Gastroenterology, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, Changsha, Hunan, People’s Republic of China
Correspondence: Jiao Qin, Renal Rheumatology and Immunology Department, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, South Shaoshan Road No. 161, Changsha, Hunan, 410001, People’s Republic of China, Tel +86731-8566-8137, Email qinj8429@163.com
Background: Hereditary angioedema (HAE) is typically autosomal dominant, though recessive cases exist. It is characterized by recurrent episodes of swelling affecting the subcutaneous tissues, oropharyngeal mucosa, and gastrointestinal tract. This report describes a misdiagnosed case with a novel “SERPING1” variant.
Case Presentation: A 22-year-old Chinese male presented with recurrent acute abdominal pain since March 2018, initially misdiagnosed as gastroenteritis or intestinal obstruction at multiple hospitals. During current hospitalization, detailed history revealed non-pitting eyelid edema in July 2019 that progressed to facial edema within 24 hours after a cold. Over the subsequent three years, he experienced recurrent subcutaneous edema involving face and extremities, typically resolving spontaneously within one week. Family history showed his father had similar self-limiting episodes of abdominal pain and edema between ages 20– 30, with no recurrence after age 40. Physical examination demonstrated upper abdominal tenderness without rebound pain. Low C4 levels prompted C1INH testing and genetic analysis, confirming HAE due to C1INH deficiency type 1 (HAE-C1INH-Type1) with a novel SERPING1 variant. Since initiating lanadelumab (300mg biweekly) on April 26, 2023, the patient has completed 11 injections and remains in good condition.
Conclusion: HAE is a rare disease that is often misdiagnosed. Complement C4 remains a critical screening biomarker for patients with HAE. In addition, we reported a novel frameshift variant in the coding region of the SERPING1 gene, and the specificity of the position offers a unique point of interest in the discussion of the disease’s causative locus.
Keywords: hereditary angioedema, SERPING1 gene, C1 inhibitor
1Department of Nephrology and Rheumatology, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, Changsha, Hunan, People’s Republic of China; 2Department of Gastroenterology, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, Changsha, Hunan, People’s Republic of China
Correspondence: Jiao Qin, Renal Rheumatology and Immunology Department, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, South Shaoshan Road No. 161, Changsha, Hunan, 410001, People’s Republic of China, Tel +86731-8566-8137, Email qinj8429@163.com
Background: Hereditary angioedema (HAE) is typically autosomal dominant, though recessive cases exist. It is characterized by recurrent episodes of swelling affecting the subcutaneous tissues, oropharyngeal mucosa, and gastrointestinal tract. This report describes a misdiagnosed case with a novel “SERPING1” variant.
Case Presentation: A 22-year-old Chinese male presented with recurrent acute abdominal pain since March 2018, initially misdiagnosed as gastroenteritis or intestinal obstruction at multiple hospitals. During current hospitalization, detailed history revealed non-pitting eyelid edema in July 2019 that progressed to facial edema within 24 hours after a cold. Over the subsequent three years, he experienced recurrent subcutaneous edema involving face and extremities, typically resolving spontaneously within one week. Family history showed his father had similar self-limiting episodes of abdominal pain and edema between ages 20– 30, with no recurrence after age 40. Physical examination demonstrated upper abdominal tenderness without rebound pain. Low C4 levels prompted C1INH testing and genetic analysis, confirming HAE due to C1INH deficiency type 1 (HAE-C1INH-Type1) with a novel SERPING1 variant. Since initiating lanadelumab (300mg biweekly) on April 26, 2023, the patient has completed 11 injections and remains in good condition.
Conclusion: HAE is a rare disease that is often misdiagnosed. Complement C4 remains a critical screening biomarker for patients with HAE. In addition, we reported a novel frameshift variant in the coding region of the SERPING1 gene, and the specificity of the position offers a unique point of interest in the discussion of the disease’s causative locus.
Keywords: hereditary angioedema, SERPING1 gene, C1 inhibitor