Haemochromatosis

The most common symptoms noticed by people with haemochromatosis (inherited iron overload disorder) are • Fatigue, weakness and lethargy • Joint pains leading to osteoarthritis * Other symptoms include: • Abdominal pain • Diabetes • Liver disorders; enlarged liver, cirrhosis • Sexual disorders; loss of sex drive in both male and female, impotence in men, absent or scanty menstrual periods and early menopause in women • Decrease in body hair • Discolouration or bronzing of the skin • Cardiomyopathy; disease of the heart muscle • Neurological/psychiatric disorders; impaired memory, mood swings, severe irritability, depression. These symptoms, if present, take time to develop. No two people are alike and symptoms will vary from person to person. Some people never develop any symptoms at all. All of the symptoms of haemochromatosis can also be caused by other medical conditions or even just the stresses of modern life. They develop slowly and people often do not notice what is happening for a long time. This can make haemochromatosis difficult to diagnose. Symptoms are caused by high levels of iron stored in the body. One indicator of the level of iron stored is serum ferritin. If iron stores are high the serum ferritin level will be high, but serum ferritin levels can also be raised by other factors. The normal range is 20 – 300 micrograms per litre (µg/L) for men and 10 – 200 µg/L for women. There is strong medical evidence of a potential for significant organ damage when iron stores cause serum ferritin levels above 1,000 µg/L. However some people seem to experience symptoms with levels between 300 and 1,000 µg/L. Higher levels are more likely to be associated with more severe symptoms. If haemochromatosis is diagnosed and treated before serious iron overload and significant damage occurs, most symptoms will decrease or disappear. However there is evidence that treatment may not alleviate arthritis symptoms.