Newsletter Issue 3: What is the diagnosis?

The following is a challenging case history presented by KMS newsletter team at the June 2009 issue - we hope you got the diagnosis right, if not check the answer right below

"A 56 year-old male, previously healthy, presents with gradual onset of fatigue, insomnia and myalgias over the past few years. Recently he has developed diabetes. On examination he has some skin pigmentation and pain in his hands and knees. What does he have?"

Hereditary Haemochromatosis (HH) is a disease of excessive absorption of iron which is subsequently deposited in different body tissues causing them damage. The pattern of inheritance is autosomal recessive. Haemochromatosis can also be acquired by adding excess iron to the circulation via frequent blood transfusions as necessitated for the treatment of certain diseases (e.g. Haemophilia, Thalassaemia). HH is hard to diagnose because the symptoms are often vague and it takes a long time to develop (age of diagnosis is usually between 40-60 years old). By then, liver damage and other problems are well established. The skin pigmentation and the onset of diabetes (secondary to pancreas damage) are the key clues to diagnosing HH in this case, also known as 'bronze diabetes'. Other symptoms include cardiac abnormalities, early-onset and unexplained joint pain and male sexual dysfunction. Tests to help diagnose HH include: full blood count, hematinics such as ferritin and iron levels; a liver biopsy would provide a definitive diagnosis. The treatment focuses on removing excess iron, either by removing the iron physically (venesection) or chemically using chelators such as desferrioxamine. In fact, this disease is more common in men than women because women naturally lose more iron through menstruation and pregnancy.

References:

R Lim, T Irvine, M S Ahmed, K Abraham and C F Wong. A permanent tan from iron. Kidney International (2008) 73, 898

www.webmd.com