Autosomal recessive disorder of dysregulated iron absorption
Majority related to mutation in HFE gene, which regulates hepcidin; decreased hepcidin results in unregulated iron absorption and overload
Multi-site organ dysfxn occurring after decades due to iron deposition
Less common mutations can also cause iron overload: e.g. affecting transferrin receptor protein or ferroportin (promotes iron movement from cells into blood)
Secondary iron overload can occur w/Thalassemia or other disorders leading to hemolysis, frequent transfusions, other
Risk Factors
Family hx
M > f
European ancestry
Typically asymptomatic until age >50
Symptoms
Degree of symptoms varies if coexisting liver dz (e.g. etoh, hep c, nafld)
Sx develop based on organs affected: decreased libido and impotence→ testicular dysfxn