METHODS: A cohort of 109 CAYA patients with the above symptoms underwent epidermal skin biopsy for nerve fiber density. Blood biomarkers for inflammation were tested (CRP, ESR, ANA, complement (C3), thyroid function testing with antibodies (thyroid peroxidase antibody and thyroglobulin antibody), and cytokine panel 13). Patients completed a Quality of Health questionnaire. Statistical analysis was performed using Wilcoxon rank sum tests.
RESULTS: In CAYA patients with OI or POTS and neuropathic symptoms, skin biopsy for small fiber neuropathy was abnormal in 53 %. The sample population was predominantly female and Caucasian with moderately decreased perceived quality of health. OI /POTS patients with small fiber neuropathy had a 3-fold probability of having a positive ANA or anti-thyroid antibody, suggesting an underlying autoimmune or inflammatory process.
CONCLUSIONS: Our data suggest a link between OI and POTS and small fiber neuropathy. Small fiber neuropathy was found by skin biopsy in over half of the patients tested. OI and Postural orthostatic tachycardia patients with small fiber neuropathy expressed multiple markers suggesting an underlying autoimmune or inflammatory process. Future research will be done to evaluate the symptomatic implication of SFN and whether immune or pharmacologic manipulation can alter patient symptoms.
方法:对109名具有上述症状的CAYA患者进行表皮皮肤活检,检测神经纤维密度。检测了炎症的血液生物标志物(CRP,ESR,安娜,补码(C3),甲状腺功能检测抗体(甲状腺过氧化物酶抗体和甲状腺球蛋白抗体),和细胞因子组13)。患者完成了健康质量问卷。使用Wilcoxon秩和检验进行统计分析。
结果:在有OI或POTS和神经性症状的CAYA患者中,53%的小纤维神经病变的皮肤活检异常。样本人群主要是女性和白种人,感知健康质量中度下降。OI/POTS小纤维神经病变患者ANA或抗甲状腺抗体阳性的概率为3倍,提示潜在的自身免疫或炎症过程。
结论:我们的数据表明OI和POTS与小纤维神经病之间存在联系。在接受测试的患者中,超过一半的患者通过皮肤活检发现了小纤维神经病变。具有小纤维神经病变的OI和体位性直立性心动过速患者表达了多种标志物,表明潜在的自身免疫或炎症过程。将进行未来的研究以评估SFN的症状含义以及免疫或药物操作是否可以改变患者症状。