Recurrent Angioedema with Abdominal and Genital Involvement in Childhood: Hereditary Angioedema Type 2 Disease due to C1 Inhibitor Functional Deficiency
Journal Title: Istanbul Medical Journal - Year 2020, Vol 21, Issue 2
Abstract
Hereditary angioedema is a rare disorder characterized by recurrent angioedema attacks due to C1 inhibitor antigen or functional deficiency. Here, two cases with recurrent swelling on extremities, genital organs and face that were later diagnosed with C1 inhibitor functional deficiency (hereditary angioedema type 2) were presented. The first patient was an 8-year-old boy complaining of hand and foot swelling recurring once a year for the last 4 years. He was more frequently brought to outpatient pediatric clinics because of his recurring complaints in the last 5 months. In prodromal period, he had erythema marginatum-like rash and sometimes described abdominal pain with swelling. The second patient was an 11-year-old girl complaining of abdominal pain and facial swelling recurring in a couple of months for the last 8 years. Her grandfather, father and uncle had the same angioedema. In their laboratory evaluation, complement C4 levels were both found as low at <0.07 g/L (>0.1). Although C1 inhibitor antigen levels were both in reference range, its function tests were detected as low at 31% and 43% (>70%), respectively. Therefore, in cases with pediatric recurrent angioedema without urticaria, hereditary angioedema should be considered. After screened with C4 level, if required, both C1 inhibitor antigen and function tests are evaluated.
Authors and Affiliations
Öner Özdemir, Halime Çiçek
Keywords
Related Articles
- EP ID EP685078
- DOI 10.4274/imj.galenos.2020.78785
- Views 130
- Downloads 0
Validity and Reliability of the Turkish Version of “Nijmegen-Gender Awareness in Medicine scale”
Introduction: Gender is a concept that expresses how the society sees, perceives, thinks individuals and how they should behave as a men and women. Gender-based norms and values, while strengthening the differences betwe...
Protective Effects of Imatinib and Ginkgo Biloba on Cisplatin-induced Ovarian Damage in Rats
Introduction: In our study we aimed to observe the protective effects of imatinib and ginkgo biloba (GB) on cisplatin (CP)- induced ovarian damage in rats. Methods: Thirty-two female rats were included and assigned to f...
Absence of the Left Circumflex Artery Detected by Coronary Computed Tomography Angiography
Congenital absence of the left circumflex artery (LCx) is a very rare congenital coronary anomaly. It is a benign incidental finding. Coronary computed tomography angiography (CTA) is the first choice imaging modality fo...
Assessment of Echocardiographic Findings in Patients with Asymmetric Presentation of Retinopathy of Prematurity
Introduction: This study aimed to investigate the relationship between symmetric and asymmetric retinopathy of prematurity (ROP) and echocardiographic parameters. Methods: This prospective study included 85 premature in...
A Localized Painful Rash Induced by Linagliptin in a Patient with type 2 Diabetes
The number of patients with type 2 diabetes using dipeptidyl peptidase-4 (DPP-4) inhibitors is increasing across the world. Although this class of antidiabetic medications is generally safe and associated with less side...