遗传性血管性水肿一例

A Case of Hereditary Angioedema

  • 摘要: 患者,男,43岁,周身反复水肿10年余,面部水肿加重1 d。曾多次因“急腹症、喉头水肿”就诊于外院皮肤科、普外科和急诊科,抗组胺药及糖皮质激素治疗无效。查体:右上眼睑、双面颊、唇部非凹陷性肿胀,呈非对称性。入院当晚突发喉头水肿、呼吸困难,经及时抢救后病情平稳。发作期间筛查补体C4浓度下降,C1酯酶抑制剂功能及浓度下降,诊断1型遗传性血管性水肿。给予拉那利尤单抗预防性治疗后取得满意疗效,患者目前仍在随访中。

     

    Abstract: A 43-year-old male patient presented with recurrent edema in different anatomical sites for over 10 years, with facial edema worsening 1 day prior to admission. He had been repeatedly admitted to dermatology, general surgery, and emergency departments of external hospitals due to " acute abdomen" and " laryngeal edema, " resistant to antihistamines and glucocorticoid therapy. Physical examination revealed non-pitting swelling of the right upper eyelid, bilateral cheeks, and lips asymmetrically. On the night of admission, he developed acute laryngeal edema with dyspnea, which was promptly treated, leading to clinical stabilization. Laboratory screening during the attack revealed decreased serum complement C4 levels, along with reduced functional activity and concentration of C1 esterase inhibitor, confirming a diagnosis of type 1 hereditary angioedema. The patient received lanadelumab for prophylaxis and achieved satisfactory clinical outcomes. He remains under long-term follow-up.

     

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