Diagnosis of Hereditary Haemochromatosis using Non-Invasive Methods

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Abstract
Hereditary (idiopathic, genetic) haemochromatosis is a genetic disease in which food iron absorption is inadequately increased and not balanced to the body iron stores. As a consequence, untreated patients have a risk to develop iron overload which can give rise to various iron-induced organ damages, leading in some cases to multi-organ dysfunction (liver cirrhosis, diabetes, cardiomyopathy). Diagnosis in this iron loading disease was formerly based on highly increased transferrin saturations, elevated serum ferritin concentrations and on excessive iron deposits in biopsy material from liver. After the identification of the HFE gene and its most common mutations, a genetic diagnosis independent from iron stores has become available. Because of individual variations in the loading process, diagnostic criteria are still necessary to characterise the risks of a given patient to develop iron-induced lesions and clinical symptoms. This review describes the current knowledge of the molecular pathology and discusses criteria for diagnosis and screening of hereditary haemochromatosis. Non-invasive liver iron quantification could represent the optimal complement to the HFE gene testing. Data on our experience with SQUID biosusceptometry, which makes liver biopsy unnecessary in most cases, are presented.

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