Hereditary hemochromatosis
ICD-10 E83.1 · ICD-11 5C64.10

Treatment of Hereditary Hemochromatosis with Arthropathy of the 2nd and 3rd Metacarpophalangeal Joints and Ankles

Haemochromatosis arthropathy is a recognised complication of hereditary hemochromatosis. It presents with a distinct pattern of joint involvement and follows a clinical course that requires specific management strategies separate from the underlying iron overload.

Clinical Scenario

The joint disease in haemochromatosis is similar to osteoarthritis but is associated with a younger age of onset. It characteristically affects the 2nd and 3rd metacarpophalangeal joints and ankles, and is marked by exuberant osteophytes and rapid progression to cartilage loss. Importantly, haemochromatosis arthropathy does not respond to phlebotomy and can develop even on maintenance therapy.

Management Approach

Management addresses both symptom control and the structural joint damage. The structured protocol includes a progression of interventions, ultimately extending to orthopaedic procedures when conservative measures are insufficient.

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References

DOI: 10.1016/j.jhep.2022.03.033

Haemochromatosis arthropathy does not respond to phlebotomy and can develop on maintenance therapy.

The joint disease in haemochromatosis is similar to osteoarthritis but is associated with a younger age of onset; haemochromatosis arthropathy typically affects the 2nd and 3rd metacarpophalangeal joints and ankles, and is characterised by exuberant osteophytes and rapid progression to cartilage loss.

Treatment is limited to analgesics and non-steroidal anti-inflammatory agents, physiotherapy and ultimately orthopaedic procedures including joint replacement.

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