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希氏综合征的临床表现:一种罕见的自身免疫性疾病。

Clinical Presentation of Schnitzler's Syndrome: A Rare Autoimmune Disease.

机构信息

University of Florida Health, Gainesville, USA.

出版信息

J Investig Med High Impact Case Rep. 2023 Jan-Dec;11:23247096231220480. doi: 10.1177/23247096231220480.

Abstract

Schnitzler's Syndrome (SS) is a rare late-onset acquired autoinflammatory disorder which consists of chronic urticaria associated with a monoclonal IgM-kappa gammopathy, arthralgias, skeletal hyperostosis, lymphadenopathy, and recurrent constitutional symptoms. The average age of diagnosis is 51 years with a slight male predominance with a male to female ratio of 1.6. Diagnosis of SS requires the presence of 2 major criteria including chronic urticaria and monoclonal IgM along with at least two of the following minor criteria: recurrent intermittent fevers, bone pain, arthralgias, elevated erythrocyte sedimentation rate (ESR), neutrophilic dermal infiltrate on skin biopsy, and leukocytosis or elevated C-reactive protein (CRP). Early diagnosis and clinical awareness are paramount in SS as it is associated with a 15-20% risk of lymphoproliferative malignancy. The median overall survival is 12.8 years. We present a case of a 39-year-old female with new onset urticaria associated with recurrent fevers and joint pain. Symptoms were refractory to steroids, and high dose antihistamines. Multi-disciplinary evaluation resulted in the ultimate diagnosis of Schnitzler's Syndrome. The patient was ultimately treated with canakinumab (Il-1 inhibitor), with near resolution of symptoms. This case demonstrates the importance of a broad differential diagnosis and maintaining a high clinical suspicion for rare diseases when presented with a complex form of an otherwise common condition.

摘要

希氏综合征(SS)是一种罕见的迟发性获得性自身炎症性疾病,由慢性荨麻疹伴单克隆 IgM-κ 丙种球蛋白血症、关节痛、骨过度生长、淋巴结病和复发性全身症状组成。诊断的平均年龄为 51 岁,男性略占优势,男女比例为 1.6。SS 的诊断需要存在 2 项主要标准,包括慢性荨麻疹和单克隆 IgM,以及以下至少 2 项次要标准:复发性间歇性发热、骨痛、关节痛、红细胞沉降率(ESR)升高、皮肤活检中性粒细胞浸润、白细胞增多或 C 反应蛋白(CRP)升高。早期诊断和临床意识对 SS 至关重要,因为它与 15-20%的淋巴增殖性恶性肿瘤风险相关。总生存期中位数为 12.8 年。我们报告了一例 39 岁女性新发性荨麻疹伴复发性发热和关节痛。症状对类固醇和高剂量抗组胺药耐药。多学科评估最终诊断为希氏综合征。该患者最终接受了卡那单抗(IL-1 抑制剂)治疗,症状几乎得到缓解。该病例表明,当出现复杂形式的常见疾病时,需要广泛的鉴别诊断,并保持对罕见疾病的高度临床怀疑。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f46b/10748524/bb12897e9306/10.1177_23247096231220480-fig1.jpg

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