Objective: To evaluate whether arthropathy is associated with juvenile hemochromatosis and, if so, to assess the relationship between this feature and other clinical features of the disease.
Methods: Clinical, laboratory, and radiologic evidence of arthropathy was studied in 8 Greek patients with genetically proven juvenile hemochromatosis. Osteopenia and osteoporosis were assessed by bone mineral density measurement.
Results: Seven of the 8 patients had articular manifestations. The main affected joint was the metacarpophalangeal joint, and the arthritis was progressive independent of phlebotomy therapy. Osteopenia was observed in 2 patients, and osteoporosis in 2 patients.
Conclusion: Arthropathy may be present in patients with juvenile hemochromatosis, with features similar to those found in patients with hemochromatosis type 1.