Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio.
Am J Med Genet A. 2019 Apr;179(4):602-607. doi: 10.1002/ajmg.a.61069. Epub 2019 Feb 8.
Tumor growths, migraine headaches, and other health-related complications reported in patients with neurofibromatosis type 1 (NF1) are often associated with pain. Thus, this study sought to describe and quantify the pain experience in children and young adults with NF1. Surveys were administered to 49 participants (28 children and 21 adults), ages 8 through 40 years. The survey included the Numeric Rating Scale 11 (NRS11) to assess pain intensity and the Patient Reported Outcomes Measurement Information System (PROMIS) to assess pain interference. A supplemental survey was created to measure pain frequency, chronicity, quality, and location. Results suggest pain is not only present in 55% of the cohort, but that it can begin at early ages. Pain was chronic in 35% of participants, with 41% reporting the use of medication to manage pain symptoms. Common sources of pain included migraine headaches and NF-related tumors. Pain was described as having neuropathic features (i.e., burning, tingling, numbness, or itching), and was localized to the head, back, and extremities. Further, subsets of participants reported moderate-to-severe pain intensity, high frequency of pain, and interference of pain in daily activities. Continued investigation of the pain experience in a multisystem disorder, such as NF1, remains essential to providing guidance in the setting of complex pain management.
患有神经纤维瘤病 1 型（NF1）的患者常出现肿瘤生长、偏头痛和其他与健康相关的并发症，这些往往与疼痛有关。因此，本研究旨在描述和量化 NF1 患儿和青少年的疼痛体验。该研究对 49 名参与者（28 名儿童和 21 名成年人）进行了调查，年龄在 8 至 40 岁之间。调查包括数字评分量表 11（NRS11）评估疼痛强度和患者报告的结果测量信息系统（PROMIS）评估疼痛干扰。还创建了一份补充调查，以测量疼痛的频率、慢性、质量和位置。结果表明，疼痛不仅存在于 55%的患者中，而且疼痛可能在早期就出现。35%的参与者的疼痛为慢性疼痛，其中 41%的人报告使用药物来控制疼痛症状。常见的疼痛源包括偏头痛和 NF 相关的肿瘤。疼痛被描述为具有神经病理性特征（即烧灼感、刺痛感、麻木感或瘙痒感），并局限于头部、背部和四肢。此外，部分参与者报告疼痛强度中度至重度、疼痛频率高以及疼痛干扰日常生活。对 NF1 等多系统疾病的疼痛体验进行进一步研究，对于提供复杂疼痛管理指导仍然至关重要。
