Abstract
Purpose :
Fuchs endothelial corneal dystrophy (FECD) is the most common trinucleotide repeat (TNR) expansion disorder, involving a CTG repeat in the widely expressed transcription factor 4 gene. It is unknown whether patients with FECD are at variable risk of systemic disease, but several other TNR expansion disorders such as myotonic dystrophy type 1 are associated with increased cancer risk. We sought to quantify the risk of malignancy in patients with FECD.
Methods :
Using the Medicare Limited 5% Data Sets, U.S. Medicare fee-for-service beneficiaries (age ≥65 years old) with FECD and cancer were identified via International Classification of Diseases (ICD), 9th and 10th Revision diagnostic codes from January 1, 2014 to December 31, 2016. Odds ratios (OR) and 95% confidence intervals (95% CI) were calculated to compare risk of various cancers in Medicare beneficiaries with FECD compared to those without FECD. The main outcome measure was OR of cancer at various anatomic locations in patients with and without FECD. In order to evaluate the potentially confounding variable of intensity of medical care between groups, the Charlson comorbidity index for systemic diseases, such as diabetes and cardiovascular disease, was applied.
Results :
Of the 1,462,740 beneficiaries in the Medicare Limited 5% Data Set, 15,534 (1.1%) patients had an ICD code for FECD. Compared to U.S. Medicare beneficiaries without FECD, FECD patients were at increased risk for the following malignancies after adjustment for age, sex, race, tobacco use, and Charlson comorbidity index: breast (OR: 1.32; 95% CI: 1.22 to 1.43; p<0.001), cutaneous basal cell (OR: 1.42; 95% CI: 1.35 to 1.49; p<0.001), cutaneous squamous cell (OR: 1.45; 95% CI: 1.38 to 1.53; p<0.001), and ovarian (OR: 1.84; 95% CI: 1.48 to 2.30); p<0.001). Conversely, FECD cases were at decreased risk for lung (OR: 0.81, 95% CI: 0.71 to 0.93, p=0.003) and prostate cancer (OR: 0.88; 95% CI: 0.81 to 0.96; p=0.002).
Conclusions :
Patients with FECD ≥65 years old may be at increased risk for cancer at several anatomic locations. Further studies are needed to confirm this association, elucidate potential disease mechanisms, and identify genetic and/or environmental risk factors.
This is a 2021 ARVO Annual Meeting abstract.