Hereditary angioedema, although uncommon, should be considered in the differential diagnosis of all patients with facial edema. In this article, we present a case of hereditary angioedema and discuss the presentation, diagnosis, and management of the disease.

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Aim And Background: Angioedema is a nonpruritic swelling that typically affects the skin, mucous membranes of the face, and perioral soft tissues. It can be life-threatening, but it is usually not and can be treated conservatively unless the airway is compromised. This paper seeks to illuminate a rare case of hereditary angioedema (HAE) onset following dental procedures in a 9-year-old Indian boy.

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Advances in the Pathogenesis of Hereditary Angioedema.

Zhongguo Yi Xue Ke Xue Yuan Xue Bao

December 2024

Department of Allergy, PUMC Hospital,CAMS and PUMC,Beijing 100730,China.

Hereditary angioedema (HAE) is a rare,unpredictable,autosomal dominant disorder characterized by recurrent swelling in subcutaneous and submucosal tissue.In recent years,the pathophysiology and pathogenesis of HAE have been continuously studied and elucidated.In addition to the genes encoding complement 1 esterase inhibitors,new pathogenic variants have been identified in the genes encoding coagulation factor Ⅻ,plasminogen,angiopoietin-1,kininogen,heparan sulfate 3-O-sulfotransferase 6,and myoferlin in HAE.

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: Human β-defensin 2 (HBD2) is a protein that plays an important role in activating the immune system by modulating spinal pathways and the inflammatory response. According to previous research, HBD2 was proven to be important in chronic spontaneous urticaria (CSU) (their values were significantly elevated in CSU patients, with a significant correlation between HBD2 levels and the percentage of peripheral basophils, suggesting that elevated HBD2 levels may be a potential marker of basophil and mast cell activation), which led us to additional research on the HBD2 molecule in isolated chronic angioedema. The aim of this research is to examine HBD2 values in the saliva and serum of patients with isolated angioedema, as a potential biomarker of the disease.

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