Case 1

A 54 year old man gave a two year history of a painful right hip, fingers, and wrists. There was no past medical history of note. On examination there were bilateral, bony, metacarpophalangeal (MCP) joint swellings and painful restriction of movement in his right hip. The remainder of the examination was unremarkable. It was thought, at the initial presentation, that the clinical and radiographic features (fig1) were consistent with osteoarthritis and he was treated symptomatically. A further rheumatology opinion was sought two years later as his symptoms were progressive. Because of the history and radiographic features further investigations were requested. Radiographs of his knees confirmed chondrocalcinosis and calcium pyrophosphate dihydrate (CPPD) crystals were identified in synovial fluid aspirate by compensated polarised light microscopy. The serum ferritin concentration was found to be increased at 1200 μg/l. The γ-glutamyltransferase was 65 (10–50 U/l) and the alanine aminotransferase 65 (5–40 U/l), the remainder of the liver function tests were normal. A liver biopsy confirmed haemochromatosis. Regular phlebotomy was instituted. Eight months later his serum ferritin and liver function tests had returned to normal. The arthropathy, however, remained symptomatic, requiring regular topical agents, analgesics, and education in pain management. He eventually required a right hip arthroplasty. Screening of family members identified an asymptomatic affected sister who subsequently underwent phlebotomy.