Prognosis

The prognosis for those with haemochromatosis is dependent on the amount and duration of iron overload experienced by the patient.[66] Not all patients with haemochromatosis-associated mutations develop progressive iron loading, even without treatment.[56] A screening survey of around 65,000 people showed that the absolute risk of liver damage is about 5% in C282Y homozygous men and less than 1% in women.[67][68]​​​ As such, prognostic information derived from patients presenting with symptoms or signs of iron overload is probably not relevant to all people with these mutations.

The prognosis of those who do develop iron overload is affected by the stage at which they are diagnosed and whether adequate treatment is received. With advances in diagnosis and management of haemochromatosis, prognosis has improved in recent decades. However, if left untreated, it can cause progressive liver damage and lead to cirrhosis, hepatocellular carcinoma, and other complications associated with iron overload. One meta-analysis in C282Y homozygous patients with clinical haemochromatosis found they have an increased risk of liver disease (odds ratio 3.9) and hepatocellular carcinoma (odd ratio 11) compared to controls.[67][69]​​ Homozygosity for C282Y has also been associated with increased risks of arthritis, colorectal cancer, pneumonia, diabetes mellitus, and breast cancer.[9][70][71]​ Men are affected more than women, with complications associated with C282Y homozygosity seen in up to 40% of men and 13% of women.[9]

A key factor affecting prognosis is the presence of cirrhosis at diagnosis.​[4][7]​ In one study, life expectancy of patients with haemochromatosis without cirrhosis was the same as the general population, however, life expectancy in those with cirrhosis was reduced.[72]​ One 2015 study of 1085 C282Y homozygotes treated according to recommendations, showed that the overall standardised mortality ratio was the same as in the general population. However, mortality from liver disease (including hepatocellular carcinoma) was increased in those patients who had serum ferritin of >2000 micrograms/L (standardised mortality ratio of 24).[73]

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