hereditary hemachromatosis

Question

Is this also caused by Osteoarthritus or are you just born with it? What are the implications?

Answer

Hereditary hemachromatosis is a genetic disorder that results in the increased absorption of iron from the intestine which results in iron overload in the body. About 3-5 per 1000 people of European descent have the disease but patients can vary widely on the severity of symptoms.

The early symptoms are very non-specific with joint pain, weakness, fatigue and weight loss the most common. Over time, iron can deposit in the organs particularly the heart and liver. On occasion, in severe cases, liver cirrhosis and heart failure can result. Rapid and progressive osteoarthritis can also occur, presumably because of excessive iron in the joints. Pseudogout can also occur. X-rays often show distictive findings.

The diagnosis is by testing the blood for iron levels and also by the genetic test. Treatment is to get rid of excessive iron by phlebotomy (removing blood, similar to blood donation) on regular basis.

Alan Matsumoto, M.D.

About Alan Matsumoto, M.D.

Part-time Faculty, Division of Rheumatology
Johns Hopkins University