Furr Joe C, Panda Mukta
Department of Internal Medicine, University of Tennessee at Chattanooga, Chattanooga, TN, USA.
J Med Case Rep. 2012 Feb 20;6:70. doi: 10.1186/1752-1947-6-70.
Cryopyrin-associated periodic syndrome is a rare genetic disorder causing cold-induced urticaria, severe arthralgias, and (potentially) renal failure and hearing loss. Therapies that effectively control the symptoms and prevent the complications of this debilitating disorder are now available, making recognition of this disease important.
A 60-year-old Caucasian woman presented with complaints of rash and joint pains to a general medicine clinic. Her history showed that her symptoms were linked to cold exposure, but the results of a cold stimulation time test were negative. Several generations of her family had similar symptoms.
This case highlights the importance of considering cryopyrin-associated periodic syndrome in the differential diagnosis of cold-induced urticaria. Several medications targeting interleukin-1-beta are available, providing significant relief from symptoms and improvement in quality of life in affected patients.
冷吡啉相关周期性综合征是一种罕见的遗传性疾病，可导致冷诱导性荨麻疹、严重关节痛以及（可能）肾衰竭和听力丧失。现在已有能有效控制症状并预防这种使人衰弱疾病并发症的疗法，因此认识这种疾病很重要。
一名60岁的白人女性因皮疹和关节疼痛到普通内科门诊就诊。她的病史显示其症状与寒冷暴露有关，但冷刺激时间试验结果为阴性。她家族中的几代人都有类似症状。
该病例突出了在冷诱导性荨麻疹的鉴别诊断中考虑冷吡啉相关周期性综合征的重要性。有几种针对白细胞介素-1-β的药物，可使受影响患者的症状得到显著缓解并改善生活质量。
