Novel nomogram for differential diagnosis of UGT1A1 gene mutation-associated unconjugated hyperbilirubinemia with hemolytic diseases

Core Tip

Core Tip: Clinical characteristic overlap and the need for complex specialized testing make it challenging to distinguish uridine diphosphate glucuronosyltransferase 1A1 mutations from hemolytic diseases in patients with chronic unconjugated hyperbilirubinemia. In a genetically confirmed cohort, we applied least absolute shrinkage and selection operator and logistic regression to identify four variables for differential diagnosis: Abnormal peripheral blood smear, hematocrit, red cell distribution width standard deviation, and reticulocyte percentage. These variables were used to establish a nomogram model, which achieved an area under the receiver operating characteristic curve of 0.986 and an area under precision-recall curve of 0.938. This model provides a simple, interpretable, and cost-effective tool for early screening and triage, potentially reducing the need for complex testing.