Recent advances in genetic iron overload-related disorders:with special focus on ferritin and HFE-related hemochromatosis

Hemochromatosis, or iron accumulation, is an inherited disorder characterized by an excessively high absorption of iron in the body. Literature states that hemochromatosis is one of the most common hereditary disorders. Excess iron is stored in joints and various organs such as the liver, heart or pancreas and may be harmful resulting in dysfunction of these organs. Since early treatment is necessary to prevent organ damage, the condition should be diagnosed in time. Diagnosis can be complicated because an elevated ferritin in the blood is not only caused by iron excess. Elevated ferritin can also be caused by inflammation, increased alcohol intake or cancer. Thus, hemochromatosis can be misdiagnosed resulting in a delay of initiation of the correct therapy. In this dissertation, research effort has been made in the correct detection of the underlying cause of an increased ferritin in the blood. It also gives an overview of all disease characteristics, survival and disease course of the hereditary form of iron accumulation (hemochromatosis) in patients from the South Limburg region. There was searched for predictors of the severity of the disorder and aspects of the underlying mechanisms causing hemochromatosis were studied in more detail

Hyperferritinemia in Nonalcoholic Fatty Liver Disease:Iron Accumulation or Inflammation?

Hyperferritinemia, observed in inflammation, iron overload as well as in combination of both, is found in similar to 30% of nonalcoholic fatty liver disease (NAFLD) patients. The authors summarized the evidence regarding the potential cause of hyperferritinemia in NAFLD, as this may affect the indicated therapy. A systematic literature search was conducted in EMBASE, PubMed, MEDLINE, and the Cochrane library. In the majority of NAFLD patients, hyperferritinemia is due to inflammation without hepatic iron overload. In a smaller group, a dysmetabolic iron overload syndrome (DIOS) is found, showing hyperferritinemia in combination with mild iron accumulation in the reticuloendothelial cells. The smallest group consists of NAFLD patients with hemochromatosis. Phlebotomy is only effective with hepatocellular iron overload and should not be the treatment when hyperferritinemia is related to inflammation, whether or not combined with DIOS. Treatment with lifestyle changes is to date probably the more effective way until new medication is becoming available