Diagnosis of Hereditary Hemochromatosis in the Era of Genetic Testing
Digestive Diseases and Sciences, 06/29/2012
Trieb C et al. – Arthralgia, in particular of the hands/wrists, is a hallmark of hereditary hemochromatosis and its presence is associated with higher ferritin levels. Despite the availability of a genetic test, it often takes more than 6 years from the first onset of clinical features to diagnose hereditary hemochromatosis. This underlines the importance of raising the awareness of hemochromatosis and its typical clinical presentations.