Haemochromatosis

Haemochromatosis is a genetic disorder causing a build-up of iron levels in the body over time. Common presenting features include fatigue and arthralgias.

Elevated transferrin saturation is the phenotypic hallmark of the disorder, and diagnosis is confirmed by genetic testing.

The main goal of treatment is to deplete elevated body iron stores and subsequently prevent its re-accumulation.

Complications may include cirrhosis, hepatocellular cancer, arthropathy, diabetes, and heart disease.

Haemochromatosis, or hereditary haemochromatosis, is a group of inherited disorders in which too much iron builds up in the body (iron overload). The most common types of haemochromatosis are characterised by dysregulated dietary iron absorption and increased iron release from macrophages. Patients with advanced haemochromatosis may present with life-threatening complications that include cirrhosis, hepatocellular cancer, diabetes, and cardiac dysfunction. The most common mutation associated with haemochromatosis is highly prevalent in white populations but the disorder has variable penetrance.[1]McCune CA, Ravine D, Carter K, et al. Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients. Gut. 2006 Apr;55(4):554-62. http://www.ncbi.nlm.nih.gov/pubmed/16174659?tool=bestpractice.com [2]Olynyk JK, Cullen DJ, Aquilia S, et al. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med. 1999 Sep 2;341(10):718-24. http://www.ncbi.nlm.nih.gov/pubmed/10471457?tool=bestpractice.com ​[3]Whitlock EP, Garlitz BA, Harris EL, et al. Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force. Ann Intern Med. 2006 Aug 1;145(3):209-23. http://www.ncbi.nlm.nih.gov/pubmed/16880463?tool=bestpractice.com ​​