There are limited population-based data on small fiber neuropathy (SFN). We wished to determine SFN incidence, prevalence, comorbid conditions, longitudinal impairments, and disabilities.

Test-confirmed patients with SFN in Olmsted, Minnesota, and adjacent counties were compared 3:1 to matched controls (January 1, 1998–December 31, 2017).

Ninety-four patients with SFN were identified, with an incidence of 1.3/100,000/y that increased over the study period and a prevalence of 13.3 per 100,000. Average follow-up was 6.1 years (0.7–43 years), and mean onset age was 54 years (range 14–83 years). Female sex (67%), obesity (body mass index mean 30.4 vs 28.5 kg/m²), insomnia (86% vs 54%), analgesic-opioid prescriptions (72% vs 46%), hypertriglyceridemia (180 mg/dL mean vs 147 mg/dL), and diabetes (51% vs 22%, p < 0.001) were more common (odds ratio 3.8–9.0, all p < 0.03). Patients with SFN did not self-identify as disabled with a median modified Rankin Scale score of 1.0 (range 0–6) vs 0.0 (0–6) for controls (p = 0.04). Higher Charlson comorbid conditions (median 6, range 3–9) occurred vs controls (median 3, range 1–9, p < 0.001). Myocardial infarctions occurred in 46% vs 27% of controls (p < 0.0001). Classifications included idiopathic (70%); diabetes (15%); Sjögren disease (2%); AL-amyloid (1%); transthyretin-amyloid (1%); Fabry disease (1%); lupus (1%); postviral (1%); Lewy body (1%), and multifactorial (5%). Foot ulcers occurred in 17, with 71% having diabetes. Large fiber neuropathy developed in 36%, on average 5.3 years (range 0.2–14.3 years) from SFN onset. Median onset Composite Autonomic Severity Score (CASS) was 3 (change per year 0.08, range 0–2.0). Median Neuropathy Impairment Scale (NIS) score was 2 at onset (range 0–8, change per year 1.0, range –7.9 to +23.3). NIS score and CASS change >1 point per year occurred in only AL-amyloid, hereditary transthyretin-amyloid, Fabry, uncontrolled diabetes, and Lewy body. Death after symptom onset was higher in patients with SFN (19%) vs controls (12%, p < 0.001), 50% secondary to diabetes complications.

Isolated SFN is uncommon but increasing in incidence. Most patients do not develop major neurologic impairments and disability but have multiple comorbid conditions, including cardiovascular ischemic events, and increased mortality from SFN onsets. Development of large fiber involvements and diabetes are common over time. Targeted testing facilitates interventional therapies for diabetes but also rheumatologic and rare genetic forms.

关于小纤维神经病 (SFN) 的基于人群的数据有限。我们希望确定 SFN 的发生率、患病率、合并症、纵向损伤和残疾。

将明尼苏达州奥姆斯特德和邻近县经测试确认的 SFN 患者与匹配的对照组进行了 3:1 的比较（1998 年 1 月 1 日至 2017 年 12 月 31 日）。

确定了 94 名 SFN 患者，发病率为 1.3/100,000/y，在研究期间有所增加，患病率为 13.3/100,000。平均随访时间为 6.1 年（0.7-43 岁），平均发病年龄为 54 岁（范围 14-83 岁）。女性 (67%)、肥胖（体重指数平均 30.4 vs 28.5 kg/m ²）、失眠（86% vs 54%）、镇痛阿片类药物处方（72% vs 46%）、高甘油三酯血症（平均 180 mg/dL vs 147 mg/dL）和糖尿病（51% vs 22%，p < 0.001）更为常见（比值比 3.8–9.0，所有p < 0.03）。SFN 患者未自我识别为残疾，中位改良 Rankin 量表评分为 1.0（范围 0-6），而对照组为 0.0（0-6）（p= 0.04）。与对照组（中位数 3，范围 1-9，p < 0.001）相比，发生了更高的 Charlson 合并症（中位数 6，范围 3-9）。心肌梗塞发生在 46% 和 27% 的对照组中（p< 0.0001）。分类包括特发性 (70%)；糖尿病（15%）；舍格伦病 (2%)；AL-淀粉样蛋白 (1%)；转甲状腺素蛋白-淀粉样蛋白 (1%)；法布里病（1%）；狼疮 (1%)；病毒后 (1%)；路易体 (1%) 和多因素 (5%)。足部溃疡发生在 17 人中，其中 71% 患有糖尿病。36% 的患者出现大纤维神经病变，平均从 SFN 发作起 5.3 年（范围 0.2-14.3 年）。中位发病综合自主神经严重性评分 (CASS) 为 3（每年变化 0.08，范围 0–2.0）。中位神经病变损伤量表 (NIS) 评分在发病时为 2（范围 0–8，每年变化 1.0，范围 –7.9 至 +23.3）。NIS 评分和 CASS 每年变化 >1 点仅发生在 AL-淀粉样蛋白、遗传性转甲状腺素蛋白-淀粉样蛋白、法布里、不受控制的糖尿病和路易体中。SFN 患者出现症状后的死亡率 (19%) 高于对照组 (12%,< 0.001)，50% 继发于糖尿病并发症。

孤立的 SFN 并不常见，但发病率正在增加。大多数患者不会出现严重的神经损伤和残疾，但有多种合并症，包括心血管缺血事件和 SFN 发作导致的死亡率增加。随着时间的推移，大纤维受累和糖尿病的发展很常见。靶向检测有助于糖尿病的介入治疗，也有助于风湿病和罕见遗传病的介入治疗。