反复腹痛、全身多处水肿1例:多学科协作诊疗

A Case of Recurrent Abdominal Pain and Multiple-Region Edema: Multidisciplinary Treatment

  • 摘要: 遗传性血管性水肿(hereditary angioedema,HAE)是一种罕见的常染色体显性遗传病,主要表现为反复发作、不可预知的皮肤、黏膜水肿,可出现于头面部、四肢、呼吸道、消化道及生殖器,全球发病率约为1/50 000。本例展示了一位青年女性,具有反复腹痛发作,伴全身多处水肿病史,急性发作时辅助检查提示补体C4浓度下降伴C1酯酶抑制剂浓度、功能下降,计算机断层扫描提示肠壁水肿及盆腔积液形成。患者既往诊断困难,本次急性发病入院,经我院多学科协作诊疗团队讨论后明确诊断为HAE。该例患者的快速诊治过程体现了多学科协作诊疗在疑难罕见病诊治过程中具有重要的意义。

     

    Abstract: Hereditary angioedema (HAE) is a rare autosomal dominant disorder characterized by recurrent, unpredictable episodes of skin and mucosal edema, which may affect the face, extremities, respiratory tract, gastrointestinal tract, and genitals, with a global prevalence of approximately 1 in 50 000. This case report presents a young female patient with a history of recurrent abdominal pain and multisite edema. During an acute episode, laboratory tests revealed decreased complement C4 levels along with reduced concentration and function of C1 esterase inhibitor. Computed tomography (CT) demonstrated bowel wall edema and pelvic effusion. Previously undiagnosed, the patient was admitted for this acute attack and was ultimately diagnosed with HAE following a multidisciplinary treatment(MDT)team discussion at our hospital. The rapid diagnosis and treatment of this case highlight the critical role of MDT in the management of complex and rare diseases.

     

/

返回文章
返回