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Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems.Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more ...
Iron deposition most commonly occurs in the liver, pancreas, skin, heart, and joints. People with iron overload classically present with the triad of liver cirrhosis, secondary diabetes mellitus, and bronze skin. [3] However, due to earlier detection nowadays, symptoms are often limited to general chronic malaise, arthralgia, and hepatomegaly. [3]
Hereditary haemochromatosis is a congenital disorder which affects the regulation of iron metabolism thus causing increased gut absorption of iron and a gradual build-up of pathologic iron deposits in the liver and other internal organs, joint capsules and the skin. [5] The iron overload could potentially cause serious disease from the age of ...
The symptoms of type 4B hemochromatosis tend to be more severe. They resemble the symptoms of hemochromatosis types 1, 2, and 3. Plasma iron concentration is elevated, and symptoms include joint pain, diabetes, and arrhythmia. Liver iron deposition tends to be greater in type 4B than in type 4A. [5]
Iron metabolism disorders may involve a number of genes including HFE and TFR2. [ 1 ] Hepcidin is the master regulator of iron metabolism and, therefore, most genetic forms of iron overload can be thought of as relative hepcidin deficiency in one way or another [1] .
Iron deficiency anemia can intensify symptoms of fatigue and shortening of breath, and can cause cold sensitivity, hair loss, paleness to the skin and nail changes, says Cunningham. It has also ...
Hemosiderin deposition in the liver is a common feature of hemochromatosis and is the cause of liver failure in the disease. Selective iron deposition in the beta cells of pancreatic islets leads to diabetes [4] [2] due to the distribution of transferrin receptor on the beta cells of islets [3] and in the skin leads to hyperpigmentation.
Mild symptoms which occur within hours include vomiting, diarrhea, abdominal pain, and drowsiness. [1] In more severe cases, symptoms can include tachypnea, low blood pressure, seizures, or coma. [2] If left untreated, acute iron poisoning can lead to multi-organ failure resulting in permanent organ damage or death. [1]