Haemochromatosis is a metabolic disorder characterised by elevated serum iron levels in various organs; the homozygous C282Y mutation is the most frequently detected. Joint involvement is common and forms part of the differential diagnosis of crystal-induced arthritis.

A 64-year-old patient with a personal history of haemochromatosis and homozygous C282Y genetic testing (since 2010), total thyroidectomy (1993), as complications he had undergone periodic phlebotomy (last in 2012), left hepatectomy (2014) due to a hepatocarcinoma of 1.8cm in segment III with no significant portal hypertension, currently in complete remission and Child–Pugh A cirrhosis in the functional stage. Referred for rheumatology consultation to study migratory inflammatory arthralgia in the small joints of the hands, knees and ankles. Physical examination revealed painful limitation on flexo-extension of the metacarpophalangeal joints, and proximal interphalangeal joints of 2nd, 3rd and 4th finger bilaterally. Non-painful limitation on flexo-extension of the left ankle with no associated tenosynovitis, and limitation in the last degrees of flexion in both knees with bilateral patellar rubbing, with no frank synovitis, therefore it was not possible to test the synovial fluid. Worthy of note from the blood tests were Hb 14.8g/dl, total leukocytes 6310, platelets 128 000/mm3, prothrombin time 58%, ESR 30mm, CRP <.3, glucose 99mg/dl, GOT/GPT 11/25U/L, GGT/FA 17/60U/L, iron 69μg/dl, ferritin 108ng/ml, magnesium 2mg/dl. PTH, vitamin D 25 EtOH within normal limits. Autoimmune study: ANA absent, rheumatoid factor negative, ACPA negative.

The radiological study showed more severe degenerative changes in the 2nd and 3rd metacarpophalangeal joints (with reduction of the joint space, subchondral cysts, and characteristically the formation of hook-like osteophytes appearing on radial face of these joints (Fig. 1). A radiological comparison of the metacarpal-phalangeal joints of a patient diagnosed with primary osteoarthritis is shown (Fig. 2). Degenerative changes can be seen in the knees (reduced joint space predominantly in the inner compartment, subchondral sclerosis, marginal osteophytes and chondrocalcinosis) (Fig. 3), and more severe changes in the left tibiotalar joint (Fig. 4).

Fig. 1.

AP X-ray of the hands showing severe degenerative changes in a patient with hereditary haemochromatosis. It can be observed that the changes are more aggressive in the 2nd and 3rd metacarpophalangeal joints bilaterally with reduced joint space, subchondral sclerosis, and hook-like osteophytes in the radial area (*).

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Fig. 2.

AP X-ray of the hand of a patient with osteoarthritis, without haemochromatosis. As an example for comparison, neither involvement of the metacarpophalangeal joints nor the formation of hook-like osteophytes (+) can be observed.

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Fig. 3.

AP X-ray of the knees. Showing radiological chondrocalcinosis (*), reduced joint space, subchondral sclerosis and marginal osteophytes.

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Fig. 4.

Lateral X-ray of left ankle. Severe joint impingement and marginal osteophytes (*).

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The clinical diagnosis was crystal-induced arthropathy associated with haemochromatosis and osteoarthritis. The flare-ups of joint inflammation were treated with low doses of colchicine (.5mg)/24h and methylprednisolone, since non-steroidal anti-inflammatory drugs were contraindicated for this patient. After the liver surgery he had no further symptoms of inflammation although the mechanical arthralgia persisted in the hands and ankles.

There are various studies that attempt to demonstrate radiological and clinical differences in these patients compared to primary osteoarthritis.1–3 Conventional radiology is the standard technique,4 a radiographic scoring system specific to haemochromatosis has also been proposed.5 The radiological features show greater involvement of the 2nd and 3rd metacarpophalangeal joints, and hook-like osteophytes in the radial area of these joints are usually observed.1,2,4,5 They have a greater tendency to symmetrical presentation in the hands (which distinguishes the condition from other degenerative processes), and marginal erosion can appear. Chondrocalcinosis presents in 20%–50% of the cases, and can be observed more frequently in the wrist, knee and ankle. The degenerative radiological changes are more severe, the tibiotalar joint is one of the most affected,4 in fact it has been confirmed that patients with C282Y homozygous haemochromatosis are more likely to require joint replacement.2 With regard to treatment, colchicine has been demonstrated as effective for patients with radiological chondrocalcinosis, and recurrent joint inflammation.4

The author has no conflict of interests to declare.