Strategies for Improving Case Reports Involving Patients With Rare Diseases

TL;DR

This paper suggests ways to improve the accuracy of case reports for rare diseases by emphasizing thorough research, expert involvement, and adherence to guidelines.

Contribution

The paper introduces specific quality-improvement strategies for rare disease case reports based on clinical experience.

Findings

Accurate case reports require recent literature review and in-person patient experience.

Involving rare disease experts enhances report accuracy.

Following case report guidelines and diagnostic criteria strengthens reporting.

Abstract

For those treating patients with rare diseases, there may be a disproportionate clinical reliance on the literature, compared with those treating patients with common problems. Moreover, the rare disease literature consists of a preponderance of case reports. Together, these factors place a higher burden for accuracy on authors of case reports of patients with rare diseases. Our decades of experience with the rare congenital craniofacial myopathy, Freeman-Sheldon syndrome-now, Freeman-Burian syndrome, and other rare diseases suggests that accurate and current information may not efficiently proliferate in the rare disease literature-a potentially significant clinical and scholarly concern. Based on our experience of reading case reports of patients with Freeman-Burian syndrome, we suggest mutually supporting mitigation strategies. Our quality-improvement strategies for rare disease case reports emphasize a careful search of recent literature, not exclusively case reports, in-person clinical experience with the patient described, and involvement of a rare disease expert as bedrocks for improving case report accuracy. We propose that objectively demonstrating the patient’s findings relative to an accepted diagnostic criteria, presenting the clinical course within a known disease mechanism, cautiously proposing a new one, and adhering to the relevant case report guidelines can help construct a stronger case report. We hope the wide dissemination of these quality improvement strategies among authors, editors, peer reviewers, and readers will improve the accuracy and completeness of case reports involving rare diseases to ensure the best chances for advancing clinical care and science for this often marginalized patient population.