An autosomal-recessive disorder; common presenting features include fatigue and arthralgias.
Fasting transferrin saturation is the phenotypic hallmark of the disorder, and diagnosis is confirmed by genetic testing.
The main goal of treatment is to avoid iron overload in early-stage disease and remove excess iron from body stores by phlebotomy in late-stage disease.
Complications may include cirrhosis, hepatocellular cancer, arthropathy, diabetes, and heart disease.
Haemochromatosis is a multisystem disorder of dysregulated dietary iron absorption and increased iron release from macrophages. Advanced cases may present with life-threatening complications that include cirrhosis, hepatocellular cancer, diabetes, and heart disease. The mutation associated with haemochromatosis is highly prevalent in white populations but the disorder has variable penetrance.
History and exam
Associate Professor of Internal Medicine
University of Iowa Carver College of Medicine
KEB declares that she has no competing interests.
Dr Kyle E. Brown would like to gratefully acknowledge Dr Rebecca Fischer Connor, the previous contributor to this topic. RFC declares that she has no competing interests.
Professor of Medicine and Chief of Liver Disease Department
University Hospital Pontchaillou
PB declares that he has no competing interests.
Department of Family Medicine
University of Wisconsin
WEC declares that he has no competing interests.
Use of this content is subject to our disclaimer