Loading...
Hereditary hemochromatosis (HH), the most common identified genetic disorder among whites, can lead to cirrhosis, liver cancer, diabetes, and heart disease — underscoring the importance of early diagnosis. Yet, recent observational data show that some people with the main genetic mutation for HH (HFE) are asymptomatic; phenotypic expression occurs in 70% of C282Y homozygotes and in <10% of people with all other mutations. These and other evidence-based findings are now incorporated into updated guidelines from the American Association for the Study of Liver Diseases (AASLD).
To formulate guidance, the AASLD graded the quality of evidence as high (A), moderate (B), or low (C) and classified recommendations as strong (1) or weak (2). Those mos…