Substantial pain burden in frequency, intensity, interference and chronicity among children and adults with neurofibromatosis Type 1

Am J Med Genet A. 2019 Apr;179(4):602-607. doi: 10.1002/ajmg.a.61069. Epub 2019 Feb 8.

Abstract

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.

Keywords: NF1; interference; neurofibromatosis; neuropathic pain; pain.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Chronic Disease
  • Cohort Studies
  • Cross-Sectional Studies
  • Female
  • Humans
  • Male
  • Neurofibromatosis 1 / complications*
  • Ohio / epidemiology
  • Pain / epidemiology
  • Pain / etiology*
  • Pain / pathology
  • Pain Measurement
  • Quality of Life*
  • Severity of Illness Index*
  • Surveys and Questionnaires
  • Young Adult