Taori Kamlesh, Kirnake Vijendra, Junare Parmeshwar, Padwale Vishal
Department of Gastroenterology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Sawangi Meghe, Wardha, Maharashtra, India.
J Family Med Prim Care. 2024 Jul;13(7):2784-2786. doi: 10.4103/jfmpc.jfmpc_1254_23. Epub 2024 Jun 28.
Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of localized edema caused by a deficiency or dysfunction of C1 inhibitor (C1-INH). This case report presents the clinical features, diagnostic evaluation, and management of a 23-year-old man with HAE. We discuss the challenges of diagnosing and treating this condition, emphasizing the importance of early recognition and appropriate therapeutic interventions.
遗传性血管性水肿(HAE)是一种罕见的遗传性疾病,其特征是由于C1抑制剂(C1-INH)缺乏或功能障碍导致局部水肿反复发作。本病例报告介绍了一名23岁HAE男性患者的临床特征、诊断评估及治疗情况。我们讨论了诊断和治疗该疾病的挑战,强调了早期识别和适当治疗干预的重要性。