Hereditary haemochromatosis (HH) is the most common autosomal recessive disorder in white populations with a prevalence of 1: 200-400 for homozygous patients. However, several longitudinal observations demonstrate that the penetrance is rather low. The classical and most common form (type 1 HH) is characterised by a C282Y mutation within the HFE gene on chromosome 6 leading to excessive iron absorption. Other, non-HFE gene mutations (HJV, HAMP, TfR2, ferroportin-1) have been described as well. There is a wide variety of symptoms and clinical manifestations such as general malaise, abdominal pain, hepatomegaly, diabetes mellitus, cardiomyopathy, infertility, discolouration of the skin, cirrhosis of the liver, and even hepatocellular carcinoma. Arthralgias as leading symptoms of arthropathy of haemochromatosis are commonly observed early in the course of the disease; in most cases, there is a characteristic osteoarthritis-like involvement of the finger (i. e. metacarpophalangeal) joints. Another articular manifestation is chondrocalcinosis, which leads to relapsing acute synovitis (i.e. CPPD synovitis). Since arthropathy often does not improve by iron depletion, symptomatic treatment of arthralgias remains the mainstay. Phlebotomy -removing 400-500 ml of blood every 1-2 weeks -should promptly be initiated upon diagnosis of iron overload; serum ferritin levels should be maintained within the range of 20-150 mu g/l. This review summarises the relevant clinical and diagnostic, pathogenic as well as therapeutic aspects of hereditary haemochromatosis.
COA
Publication 
Loading ......
