目的:艾萨克综合征(IS)是一种以电压门控钾通道(VGKC)-复合物抗体引起的周围神经兴奋过度为特征的疾病。肌肉抽搐,刚度,肥大,和自主神经失调的特征,比如多汗症,是常见的表现。该综合征可以是自身免疫性或副肿瘤性,胸腺瘤是副肿瘤IS的常见原因。此外,这种情况可以代代相传。然而,关于结果的信息有限,复发,相关综合征,相关恶性肿瘤(胸腺瘤除外),和治疗选择。尽管它很罕见,仍然需要针对IS患者的有效治疗策略.为了解决这个差距,我们进行了系统综述,总结了免疫调节剂和对症药物中最常见和最有效的IS治疗方法,以及描述结果,复发,和相关的恶性肿瘤。总之,这篇综述有助于指导IS的临床实践建议,并突出进一步研究的领域.
方法:我们使用系统评价和Meta分析方案的首选报告项目对通过PubMed和GoogleScholar数据库转发的病例进行系统评价。使用术语“艾萨克综合征”和“获得性神经肌强直”。JoannaBriggs研究所的关键评估工具用于评估纳入研究的质量。
结果:我们确定了61例病例报告和4例病例系列,共包括70例IS患者(平均发病年龄:42.5±18岁,69%是男性)。14例报告复发。胸腺瘤是最常见的与IS相关的恶性肿瘤,其次是淋巴瘤。在各种血清抗体中,电压门控钾通道复合物抗体是IS中报告最多的抗体升高(在38例患者中报告,在21例患者中升高[55.2%]),其次是乙酰胆碱神经节受体抗体,其中30%的患者(n=21)报告,5例升高。最常见的肌电图检查结果是肌胸腺放电(n=22),其次是肌束震颤(n=21)和神经肌强直(n=19)。为了治疗,将卡马西平等抗惊厥药与免疫治疗相结合,在控制症状方面效果最佳。在免疫疗法中,血浆置换加静脉大剂量类固醇的组合在IS的急性治疗中取得了最好的效果([n=6],83.3%[n=5]的病例有所改善)。在抗惊厥药的对症治疗中,卡马西平是治疗IS最有效的抗惊厥药,平均有效剂量为480毫克/天(32.3%的急性治疗策略使用卡马西平[n=23],73.9%[n=17]的病例有所改善)。
结论:是一种罕见的神经肌肉综合征,易影响中年男子。这些患者应筛查胸腺瘤和其他恶性肿瘤,如淋巴瘤。IS症状的管理可能具有挑战性,但根据我们的审查,静脉注射类固醇等多种免疫抑制剂和血浆置换与卡马西平等抗惊厥药物的组合似乎达到最佳效果.
OBJECTIVE: Isaac syndrome (IS) is a condition characterized by peripheral nerve hyperexcitability caused by voltage-gated potassium channel (VGKC)-complex antibodies. Muscle twitching, stiffness, hypertrophy, and dysautonomic characteristics, such as hyperhidrosis, are common manifestations. The syndrome can be autoimmune or paraneoplastic, with thymoma being a common cause of paraneoplastic IS. Furthermore, this condition could be handed down from one generation to another. However, there is limited information regarding outcomes, relapses, associated syndromes, associated malignancies (other than thymoma), and treatment options. Despite its rarity, there remains a need for effective management strategies for patients with IS. To address this gap, we conducted a systematic review to summarize the most common and effective treatments of IS in immunomodulatory agents and symptomatic medications, as well as to describe outcomes, relapses, and associated malignancies. Altogether, this review serves to guide clinical practice recommendations for IS and highlight areas for further research.
METHODS: We used the Preferred Reporting Items for Systematic Reviews and Meta-Analyses protocol to conduct a systematic review of cases reposted through the PubMed and Google Scholar databases. The terms \"Isaac Syndrome\" and \"Acquired Neuromyotonia\" were used. The Joanna Briggs Institute\'s critical appraisal tool was used to evaluate the quality of the included studies.
RESULTS: We identified 61 case reports and 4 case series, comprising a total of 70 patients with IS (mean age at onset: 42.5 ± 18 years, and 69% were males). Fourteen cases reported relapses. Thymoma was the most common malignancy associated with IS, followed by lymphoma. Among various serum antibodies, voltage-gated potassium channel-complex antibodies were the most reported antibodies elevated in IS (reported in 38 patients and elevated in 21 patients [55.2%]), followed by acetylcholine ganglionic receptor antibodies, which were reported in 30% of patients (n = 21) and were elevated in 5 cases. The most common electromyography findings were myokymic discharges (n = 22), followed by fasciculations (n = 21) and neuromyotonia (n = 19). For treatment, combining anticonvulsants such as carbamazepine with immunotherapy therapy showed the best results in controlling the symptoms. Among immunotherapy therapies, the combination of plasma exchange plus intravenous high-dose steroids achieved the best results in the acute treatment of IS ([n = 6], with improvement noted in 83.3% [n = 5] of cases). Among the symptomatic treatments with anticonvulsants, carbamazepine was the most efficacious anticonvulsant in treatment of IS, with an average effective dosing of 480 mg/day (carbamazepine was used in 32.3% of acute treatment strategies [n = 23], with improvement noted in 73.9% [n = 17] of cases).
CONCLUSIONS: IS a rare neuromuscular syndrome that tends to affect middle-aged men. These patients should be screened for thymoma and other malignancies such as lymphomas. The management of IS symptoms can be challenging, but based on our review, the combination of multiple immunosuppressives such as IV steroids and plasmapheresis with anticonvulsants such as carbamazepine seems to achieve the best results.