summary Hemochromatosis is a common metabolic disorder caused by deposition of excess levels of iron in the blood and tissue. Patients present with arthritis, chondrocalcinosis, diabetes, and skin hyperpigmentation. Diagnosis is made with liver biopsy showing hemosiderin in parenchymal cells. Treatment is identifying and treating the underlying etiology, decreasing iron intake, and a phlebotomy regimen. Epidemiology Prevalence 1 in 200 people of northern European extraction Demographics usually presents in 4th-5th decade of life women usually present later than men due to the protective effect of iron loss during menses and pregnancy Anatomic location multi-system disease hypogonadism diabetes liver cirrhosis cardiomyopathy arthritis may be unilateral or bilateral may affect one or multiple joints Etiology Pathophysiology increased dietary iron absorption and/or increased iron release from cell leading to inappropriate levels of iron into organs and tissues Genetics inheritance autosomal recessive mutations C282Y allele is most common Presentation Symptoms classically presents with non-specific symptoms fatigue lethargy joint or muscle pain may present with systemic symptoms impotence diabetes skin hyperpigmentation Examination arthropathy most often in PIPJ, MCPJ of index and middle finger larger joints may also be affected highly suspicious with bilateral ankle OA Imaging Radiographs may identify arthritis of the joints chonrocalcinosis presents in >50% of patients Studies Labs serum ferritin levels serum iron levels (>30 µmol/L) total iron-binding capacity TSH lipid profile Liver Biopsy (gold standard) hemosiderin in parenchymal cells Treatment Nonoperative decrease iron intake indications standard of treatment to reduce iron overload methods reduced consumption of red meat avoid raw shellfish limit supplemental vitamin C avoid excessive alcohol (secondary liver damage) phlebotomy regime indications weekly blood letting sessions to reduce serum ferritin levels contraindications severe anemia congestive heart failure Operative total joint arthroplasty indications large joint involvement Orthopaedic Manifestations Bilateral ankle arthritis hemochromatosis should be suspected when symmetrical ankle arthropathy occurs in young men Prognosis Produces arthritis and chondrocalcinosis in > 50% of patients Treatment returns life expectancy to normal if patient non cirrhotic and no diabetic