Abstract
Hereditary hemochromatosis is an autosomal recessive disease, characterised by an increase in gastrointestinal iron absorption. Phenotypic expression causes progressive iron overload in the liver, the target organ of the disease, with an increased risk of cirrhosis and hepatocellular carcinoma if not treated early enough. Classically, liver biopsy has been considered the gold standard for the study of liver iron concentration and fibrosis determination in this disease. Today, most patients with iron overload are identified by elevated serum ferritin levels. Elevated liver stiffness (LS) seems to be an early sign of liver damage also in patients with iron overload disease. Although only few studies have been performed, transient elastography in combination with serum ferritin values shows high accuracy for diagnosis of F3 and F4 fibrosis, reducing the need of liver biopsy for prognosis purposes. An LS < 6 kPa seems to rule out liver manifestation, the key target organ in hemochromatosis and iron overload disease. In contrast, serum ferritin > 1000 ng/mL and LS > 13.9 kPa are highly suggestive for severe fibrosis due to iron overload. More prospective studies are needed, but elastography should become an essential part of next guideline recommendations in the management of hemochromatosis. Other techniques, such as MR elastography, will provide unique opportunities in the future, namely in the combination with iron detection by MRI. There are first single patient observations that demonstrate LS resolution after consequent initiation of iron depletion by phlebotomy.
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Castiella, A., Zapata, E. (2020). Liver Stiffness in Patients with Hereditary Hemochromatosis and Secondary Iron Overload. In: Mueller, S. (eds) Liver Elastography. Springer, Cham. https://doi.org/10.1007/978-3-030-40542-7_19
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DOI: https://doi.org/10.1007/978-3-030-40542-7_19
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