The role of C1 inhibitor and complement as acute phase reactants: are we missing the diagnosis of hereditary angioedema?

Stepaniuk, Peter; Bosonea, Ana-Maria; Pourshahnazari, Persia; Roos, Adrienne M.; Kanani, Amin

doi:10.1186/s13223-021-00607-5

Cited by 2 publications

(1 citation statement)

References 6 publications

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“…Hereditary angioedema occurs in the vast majority of cases due to a deficiency or mutation in the C1 esterase inhibitor [ 25 , 26 ]. Hereditary angioedema therefore generally manifests with low C1 esterase inhibitor and C4 levels, particularly during flares [ 27 ].…”

Section: Discussionmentioning

confidence: 99%

Lisinopril-Induced Small Bowel Angioedema: An Unusual Cause of Severe Abdominal Pain

2022

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Patient: Female, 63-year-old Final Diagnosis: Angioedema • small bowel angioedema Symptoms: Abdominal pain • abdominal distension • diarrhea • nausea Medication: — Clinical Procedure: — Specialty: Allergology • Gastroenterology and Hepatology Objective: Rare disease Background: Angiotensin-converting enzyme inhibitors (ACE-I) are one of the most frequently prescribed classes of medications with the rare adverse effect of angioedema, and isolated small bowel angioedema is a small subset of these cases. Isolated angioedema of the small bowel is a rare adverse effect of this commonly prescribed medication, and it mimics, symptomatically and radiographically, several other illnesses and is often misdiag-nosed. While ACE-I are thought to be safe, the risk of angioedema is approximately 0.7%. Isolated small bowel angioedema is often not diagnosed in a timely manner, and misdiagnosis leads to significant morbidity in afflicted patients. Case Report: We present the case of a 63-year-old woman with angioedema of the small bowel causing abdominal pain, nausea, vomiting, and diarrhea. Computed tomography demonstrated small bowel edema and ascites. The patient had been taking lisinopril for 7 years prior to presentation and had previously been seen by multiple physicians for abdominal pain. A diagnosis of ACE-I-induced small bowel angioedema was made and lisinopril therapy was immediately stopped. Her symptoms improved with cessation of lisinopril, and follow-up imaging showed resolution of the angioedema 3 months later. Conclusions: The course of ACE-I-induced angioedema is unpredictable and often overlooked as a cause of abdominal pain. It commonly presents soon after starting ACE-I therapy, but can present years after therapy initiation, as in this case. Significant morbidity, including unnecessary exploratory laparotomy, is associated with misdiagnosis of ACE-I-induced angioedema of the small bowel. Prompt recognition and cessation of the offending drug is crucial but often delayed.

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Section: Discussionmentioning

confidence: 99%

Lisinopril-Induced Small Bowel Angioedema: An Unusual Cause of Severe Abdominal Pain

2022

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Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema

Jiang,

Dai,

Duan

et al. 2024

Orphanet J Rare Dis

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Background Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterized by recurrent edema and a potentially fatal risk. Despite its severity, there is a notable lack of effective methods for predicting and preventing HAE attacks. This study aims to thoroughly investigate the underlying pathological mechanisms of HAE and identify potential biomarkers that could aid in its prediction and prevention. Results In our investigation, we have discovered a novel pathogenic variant of the SERPING1 gene, specifically c.708T > G, in a Han family affected by HAE. Our observations indicate that this variant leads to an increase in the accumulation of C1-INH within the endoplasmic reticulum (ER), resulting in the upregulation of GRP75 protein expression. This cascade of events resulted in Ca2+ overload, disruption of mitochondrial structure and function, and eventually triggered apoptosis. Using siRNA to knock down GRP75 mitigates cellular calcium overload and mitochondrial damage induced by the SERPING1 mutation. Conclusion Based on our findings, we propose that the detection of intracellular Ca2+ concentration could serve as a valuable biomarker for predicting acute attacks of HAE in patients. This discovery holds significant implications for the development of more targeted and effective strategies in the management of HAE.

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The role of C1 inhibitor and complement as acute phase reactants: are we missing the diagnosis of hereditary angioedema?

Cited by 2 publications

References 6 publications

Lisinopril-Induced Small Bowel Angioedema: An Unusual Cause of Severe Abdominal Pain

Lisinopril-Induced Small Bowel Angioedema: An Unusual Cause of Severe Abdominal Pain

Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema

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