Cardenas Rosales Juan Carlos, Ridwan Ahmad, Ruiz-Orasma Carlos, Galeano-Lovera Santiago F, Gil Lopez Fernando, Perusina Jhonny, Squire Jacqueline D, Jiang Liuyan, Moustafa Muhamad Alhaj, Harris Dana M, Iftikhar Salma, Munipalli Bala
Mayo Clinic, Jacksonville, FL, USA.
J Prim Care Community Health. 2025 Jan-Dec;16:21501319251360500. doi: 10.1177/21501319251360500. Epub 2025 Jul 31.
Acquired angioedema due to C1-inhibitor deficiency (AAE-C1INH) is a rare condition characterized by the localized swelling of the deeper skin layers and mucous membranes, especially the face, lips, tongue, throat, and gastrointestinal tract. AAE-C1INH is strongly associated with lymphoproliferative disorders, although it can also be linked to autoimmune conditions, solid tumors, infections, or even occur without an identifiable cause. We present the case of a 45-year-old female patient with complaints of recurrent abdominal pain, bloating, and joint swelling. Laboratory testing showed decreased C1q and C4 complement levels, and C1 esterase inhibitor levels, indicative of AAE-C1INH. Further work up confirmed a diagnosis of extranodal marginal zone lymphoma with involvement of the bone marrow and spleen. Treatment with rituximab led to resolution of angioedema symptoms and almost complete remission of underlying lymphoma. This case underscores the importance of evaluating an underlying lymphoproliferative disorder in AAE-C1INH. Therefore, the early participation of a multidisciplinary team including specialists in immunology, hematology, and oncology is necessary for appropriate management.
由于C1抑制物缺乏导致的获得性血管性水肿（AAE-C1INH）是一种罕见疾病，其特征为深层皮肤和黏膜局部肿胀，尤其是面部、嘴唇、舌头、咽喉及胃肠道。AAE-C1INH与淋巴增殖性疾病密切相关，尽管它也可能与自身免疫性疾病、实体瘤、感染有关，甚至可能无明确病因。我们报告一例45岁女性患者，主诉反复腹痛、腹胀及关节肿胀。实验室检查显示C1q和C4补体水平降低，C1酯酶抑制物水平降低，提示为AAE-C1INH。进一步检查确诊为结外边缘区淋巴瘤，累及骨髓和脾脏。使用利妥昔单抗治疗后血管性水肿症状消退，潜在淋巴瘤几乎完全缓解。该病例强调了在AAE-C1INH中评估潜在淋巴增殖性疾病的重要性。因此，包括免疫学家、血液学家和肿瘤学家在内的多学科团队早期参与对于恰当管理至关重要。
