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Serum ferritin testing is a low-cost, readily available, and minimally invasive method for assessing body iron stores. However ferritin levels may be elevated due to a variety of other causes including obesity, infection, inflammation (as an acute phase protein), chronic alcohol intake, liver disease, kidney disease, and cancer.
Diagnosis is based upon identification of symptoms, medical history, family history, and laboratory tests. Blood tests may show high levels of ferritin and low, normal, or high levels of transferrin saturation, depending on the form of hemochromatosis. The diagnosis must be confirmed by genetic testing for SLC40A1 mutations. [14]
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]
Ferritin is a biomarker that reflects iron stores in the body. Testing ferritin levels on a blood panel is one of the diagnostic thresholds of diagnosing iron deficiency, says von Drygalski. The ...
The ferritin levels measured usually have a direct correlation with the total amount of iron stored in the body. However, ferritin levels may be artificially high in cases of anemia of chronic disease, where ferritin is elevated in its capacity as an inflammatory acute phase protein and not as a marker for iron overload. [citation needed]
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 ...
However this is unreliable as method of diagnosis since some patients show typical serum ferritin levels even at the latest stages of neuroferritinopathy. [1] Cerebral spinal fluid tests also are typically normal. [8] Ferritin aggregates found in the skin, liver, kidney and muscle tissues may help in diagnosing neuroferritinopathy. [8]
Tests for rheumatoid factor and anti-nuclear antibodies are usually negative and serum ferritin is markedly elevated. Patients experiencing a flare-up from adult-onset Still's disease usually report extreme fatigue, swelling of the lymph nodes and, less commonly, fluid accumulation in the lungs and heart.
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