Hereditary Hemochromatosis Diagnosis and Management

Introduction to Hereditary Hemochromatosis

Hereditary hemochromatosis is a disorder of iron metabolism caused by HFE gene mutations, resulting in excessive iron absorption and deposition in organs such as the liver, heart, and pancreas, as stated by the American Association for the Study of Liver Diseases 1, 2
The pathophysiology involves mutations in the HFE gene on chromosome 6p, which disrupts iron regulation through the hepcidin pathway, according to the American Gastroenterological Association 1, 2

The diagnosis of hemochromatosis relies on documentation of iron overload through elevated transferrin saturation and serum ferritin levels, followed by HFE genetic testing, as recommended by the American College of Physicians 3, 4
Liver biopsy measures hepatic iron concentration, as stated by the American Association for the Study of Liver Diseases 3