Recognizing Neuropathic Pain as a Symptom of Charcot-Marie-Tooth Disease that impacts Quality of Life
Seo Youn Chang1, Catherine Imossi1, Simon Gelman2, Allison Moore3, Robert Moore3, Joy Aldrich3, Florian Thomas4
1Neurology, Hackensack Meridian School of Medicine, 2Research Administration, Hackensack Meridian Health, 3Hereditary Neuropathy Foundation, 4Neurology, Hackensack Meridian School of Medicine, Hackensack University Medical Center
Objective:
This study utilizes patient-reported data to explore under-recognized contributors to disease burden in Charcot-Marie Tooth (CMT) disease. The goal of this study is to evaluate the psychosocial impact of pain on patients with CMT.
Background:
CMT is the most commonly inherited neurological disorder, with a prevalence of 1/2,500. With no definitive cure or approved pharmacologic options, treatment focuses on rehabilitation and psychosocial support.
Design/Methods:
Adults with CMT (n=224) participated in a mobile survey consisting of questions assessing pain quality and psychosocial factors. Validated PROMISⓇ scales generated T-scores describing the degree of neuropathic pain, life satisfaction, and social isolation. Statistical analysis included Pearson’s product-moment correlation and Wilcoxon rank sum tests.
Results:
A majority of respondents (81.6%) reported pain in the past 7 days, with a mean (SD) severity of 4.2±2.5 out of 10. Females aged <65 scored highest on the pain scale (5.01±2.45) and males aged >65 scored lowest (3.22±2.56). The majority of respondents experienced neuropathic-type pain (63.95%). Life satisfaction and social isolation scores among this population did not significantly differ from the general public, but pain significantly impacted patient-reported quality of life scores. Life satisfaction scores decreased with increasing pain severity (r=-0.253, p=0.00059). Social isolation was correlated with pain severity (r=0.167, p=0.02597). Compared to patients with non-neuropathic pain, patients with neuropathic pain reported increased social isolation (p=0.005967) and decreased life satisfaction (p=0.03558).
Conclusions:

These patient-reported data reveal neuropathic pain as a contributor to disease burden in patients with CMT. Our findings suggesting that patients with severe, neuropathic-type pain experience heightened social isolation and diminished life satisfaction indicate that pain may be an unmet target in improving quality of life in patients with CMT.

 

Note: The first 2 authors contributed equally to this work.

10.1212/WNL.0000000000202434