Comprehensive Clinical Update on Diagnosis and Management of Hereditary Hemochromatosis: Evidence-Based Guidance for Clinicians
I. Introduction & Pathophysiology Recap Hereditary hemochromatosis (HH), most commonly HFE-related (OMIM #235200), is an autosomal recessive disorder characterized by excessive intestinal iron absorption, leading to progressive parenchymal iron deposition in the liver, heart, pancreas, pituitary, and joints. Untreated, it results in cirrhosis, hepatocellular carcinoma (HCC), cardiomyopathy, diabetes mellitus (“bronze diabetes”), hypogonadism, and arthropathy. Key…
