Meklit Hunde, MD1, Ekow Essien, MD1, Abena Agyekum, MD2 1Aurora Healthcare, Milwaukee, WI; 2SUNY Downstate Health Sciences University, Brooklyn, NY Introduction: Hemochromatosis and Wilson's disease are two major genetic liver diseases with distinct pathophysiology but overlapping clinical presentations. While both conditions can lead to significant morbidity and mortality if untreated, comparative real-world outcomes data remain limited. This study aimed to compare mortality and clinical outcomes between patients with hemochromatosis and Wilson's disease using a large, research network. Methods: We performed a retrospective cohort study using the TriNetX Global Collaborative Network, providing access to electronic medical records across 146 healthcare organizations. Patients with hemochromatosis (ICD-10 code E83.11) were compared to those with Wilson's disease (ICD-10 code E83.01). After propensity score matching for baseline demographics and comorbidities, cohorts of 7,286 patients each were analyzed. The primary outcome was all-cause mortality. Secondary outcomes included heart failure, chronic kidney disease, atrial fibrillation and flutter, cerebrovascular disease, liver cirrhosis, hypertension, hospital admissions, and malignancies. Outcomes were analyzed using risk analysis and Kaplan-Meier survival analysis with hazard ratios (HR) and 95% confidence intervals (CI) over a five-year follow-up period. Results: In this propensity-matched cohort study, patients with hemochromatosis demonstrated significantly lower all-cause mortality compared to Wilson's disease patients (6.8% vs 8.2%; HR 0.777, 95% CI 0.690-0.875; p < 0.001). Hemochromatosis patients had lower rates of chronic kidney disease (4.2% vs 5.2%; HR 0.746, 95% CI 0.638-0.873; p < 0.001), liver cirrhosis (3.9% vs 5.8%; HR 0.643, 95% CI 0.549-0.754; p < 0.001), and hospital admissions (11.6% vs 14.9%; HR 0.727, 95% CI 0.659-0.803; p < 0.001). Conversely, hemochromatosis was associated with higher rates of pulmonary hypertension (2.3% vs 1.8%; HR 1.244, 95% CI 0.986-1.570; p=0.065) and hypertension (13.0% vs 11.4%; HR 1.066, 95% CI 0.955-1.191; p=0.255). No significant differences were observed in heart failure, atrial fibrillation and flutter, cerebrovascular disease, or cancer outcomes. Discussion: Patients with hemochromatosis showed better overall survival and lower rates of liver cirrhosis and kidney disease compared to Wilson's disease patients. These findings suggest prognostic differences between these genetic liver diseases and may inform clinical management strategies. Further prospective studies are warranted to confirm these findings and elucidate the underlying mechanisms.
Disclosures: Meklit Hunde indicated no relevant financial relationships. Ekow Essien indicated no relevant financial relationships. Abena Agyekum indicated no relevant financial relationships.
Meklit Hunde, MD1, Ekow Essien, MD1, Abena Agyekum, MD2. P1635 - Mortality and Clinical Outcomes in Genetic Liver Diseases: A TriNetX-Based Comparison of Hemochromatosis and Wilson's Disease, ACG 2025 Annual Scientific Meeting Abstracts. Phoenix, AZ: American College of Gastroenterology.
