Fragmented Digital Infrastructure and Diagnostic Inequity in a Patient from Rural Area: A Case for Streamlined Cross-Institutional Communication Platform

Amyloidosis is a rare and heterogeneous disorder requiring specialized diagnostic expertise, including accurate amyloid subtyping and multidisciplinary evaluation. Misclassification can lead to inappropriate management. Patients living in rural areas face additional barriers such as long travel distances, logistical challenges, and limited local resources. Fragmented electronic medical record (EMR) systems between community and academic centers further exacerbate disparities by delaying diagnostic review and care coordination.

74-year-old male farmer with a history of bilateral carpal tunnel syndrome and type 2 diabetes mellitus was referred for a second opinion for suspected AL amyloidosis. Congo red–positive amyloid was identified in a surgical specimen from carpal tunnel surgery. An outside bone marrow biopsy demonstrated 9% kappa-restricted plasma cells with focal Congo red positivity, raising concern for AL amyloidosis; myeloma FISH was negative. Renal and hepatic functions were normal. Mass spectrometry (MS) could not be ordered by the local hematology practice due to resource constraints.

The patient lived more than 3 hours from the academic referral center and managed his farm independently, making time away from work and repeated travel financially burdensome. Imaging, including cardiac MRI and PET scan, was coordinated at a closer tertiary center to reduce travel burden. Care coordination was difficult due to EMR differences, requiring manual transfer of records via fax. Secondary pathology review at the academic center revealed negative Congo red staining in the marrow. MS identified transthyretin (ATTR) amyloid on nerve biopsy, altering diagnosis, and management. Accurate diagnosis required ad hoc physician-to-physician communication outside standard EMR systems.

This case demonstrates how geographic barriers and fragmented digital infrastructure contribute to inequitable care in rare diseases. A HIPAA-compliant, cross-institutional platform integrating medical records and enabling secure peer-to-peer communication could improve diagnostic accuracy, reduce unnecessary travel, mitigate financial toxicity, and promote equitable access to specialized amyloidosis care for rural patients.