UMDNJ-RW Johnson Medical Center, New Brunswick, NJ, USA.
Sleep Med. 2009 Oct;10(9):976-81. doi: 10.1016/j.sleep.2008.09.015. Epub 2009 Jan 29.
Epidemiological survey studies have suggested that a large fraction of the adult population, from five to more than 10%, have symptoms of Restless Legs Syndrome (RLS). Recently, however, it has become clear that the positive predictive value of many questionnaire screens for RLS may be fairly low and that many individuals who are identified by these screens have other conditions that can "mimic" the features of RLS by satisfying the four diagnostic criteria. We noted the presence of such confounders in a case-control family study and sought to develop methods to differentiate them from true RLS.
Family members from the case-control study were interviewed blindly by an RLS expert using the validated Hopkins telephone diagnostic interview (HTDI). Besides questions on the four key diagnostic features of RLS, the HTDI contains open-ended questions on symptom quality and relief strategies and other questions to probe the character of provocative situations and modes of relief. Based on the entire HDTI, a diagnosis of definite, probable or possible RLS or Not-RLS was made.
Out of 1255 family members contacted, we diagnosed 1232: 402 (32.0%) had definite or probable RLS, 42 (3.3%) possible RLS, and 788 (62.8%) Not-RLS. Of the 788 family members who were determined not to have RLS, 126 could satisfy all four diagnostic criteria (16%). This finding indicates that the specificity of the four criteria was only 84%. Those with mimic conditions were found to have atypical presentations whose features could be used to assist in final diagnosis.
A variety of conditions, including cramps, positional discomfort, and local leg pathology can satisfy all four diagnostic criteria for RLS and thereby "mimic" RLS by satisfying the four diagnostic criteria. Definitive diagnosis of RLS, therefore, requires exclusion of these other conditions, which may be more common in the population than true RLS. Short of an extended clinical interview and workup, certain features of presentation help differentiate mimics from true RLS.
流行病学调查研究表明,相当一部分成年人(5%到 10%以上)有不宁腿综合征(RLS)的症状。然而,最近人们已经清楚地认识到,许多问卷筛查 RLS 的阳性预测值可能相当低,而且许多通过这些筛查确定的患者可能存在其他可以通过满足四项诊断标准“模拟”RLS 特征的疾病。我们在一项病例对照家族研究中注意到了这些混杂因素的存在,并试图开发区分这些混杂因素和真正 RLS 的方法。
病例对照家族研究的家庭成员由 RLS 专家使用经过验证的霍普金斯电话诊断访谈(HTDI)进行盲法访谈。除了有关 RLS 的四项关键诊断特征的问题外,HTDI 还包含有关症状质量和缓解策略的开放式问题以及其他问题,以探查诱发情况和缓解方式的特点。根据整个 HTDI,做出明确、可能或可能的 RLS 或非 RLS 的诊断。
在联系的 1255 名家庭成员中,我们诊断出 1232 名:402 名(32.0%)有明确或可能的 RLS,42 名(3.3%)可能的 RLS,788 名(62.8%)非 RLS。在确定没有 RLS 的 788 名家庭成员中,有 126 名可以满足所有四项诊断标准(16%)。这一发现表明四项标准的特异性仅为 84%。发现有模拟疾病的患者具有非典型表现,这些特征可用于协助最终诊断。
各种疾病,包括痉挛、位置不适和局部腿部病理,可以满足 RLS 的所有四项诊断标准,从而通过满足四项诊断标准来“模拟”RLS。因此,RLS 的明确诊断需要排除这些其他疾病,这些疾病在人群中的发病率可能高于真正的 RLS。在没有扩展的临床访谈和检查的情况下,某些表现特征有助于区分模拟疾病和真正的 RLS。