Increased Risk of Gout among Patients with Trisomy 21: Insights from a Population-Based Study of over 30,000 Patients with Trisomy 21.

BACKGROUND

Primary trisomy 21 is associated with an elevated incidence of conditions such as cardiac anomalies, hypothyroidism, type 1 diabetes mellitus, and auditory impairments. However, the potential association between trisomy 21 and gout remains insufficiently studied, with existing evidence largely limited to case reports. This study aimed to determine the prevalence of gout among individuals with trisomy 21 and compare it with those without trisomy 21 to evaluate a potential association and examine demographic factors influencing gout risk.

METHODS

This retrospective analysis utilised electronic health records from the US Collaborative Network within the TriNetX clinical research platform, representing over 100 million patients. We identified 30,171 individuals with trisomy 21 and compared them with 3,502,718 non-trisomy 21 controls using propensity score matching. Gout prevalence and relative risk (RR) with 95% confidence intervals (CI) were assessed between groups.

FINDINGS: Patients with trisomy 21 exhibited higher gout prevalence than controls (2.90% vs 1.05%, p < 0.0001). The relative risk of gout was 2.76 in individuals with trisomy 21 compared with controls (95% CI 2.43-3.14). Increased risk persisted across age, sex, and racial groups.

INTERPRETATION: These findings demonstrate an association between trisomy 21 and increased risk of gout. Further research is needed to understand the underlying mechanisms and inform targeted screening and management strategies in this population.