The changing role of liver biopsy in diagnosis and management of haemochromatosis

• Published in: Pathology Vol. 43; no. 5; pp. 433 - 439
• Main Authors: Bassett, Mark L., Hickman, Peter E., Dahlstrom, Jane E.
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.08.2011
• Subjects: Biochemistry; Biopsy; Early Diagnosis; Female; Genotype; haemochromatosis; Hemochromatosis - genetics; Hemochromatosis - metabolism; Hemochromatosis - pathology; Hemochromatosis Protein; Histocompatibility Antigens Class I - genetics; Histocompatibility Antigens Class I - metabolism; histology; Humans; iron; Iron - metabolism; liver; Liver Diseases - genetics; Liver Diseases - metabolism; Liver Diseases - pathology; Male; Membrane Proteins - genetics; Membrane Proteins - metabolism; biopsy; iron; Biochemistry; haemochromatosis; histology; liver
• ISSN: 0031-3025; 1465-3931
• DOI: 10.1097/PAT.0b013e3283490e04

Liver biopsy with histological examination of liver tissue was for many years the cornerstone of the diagnosis of haemochromatosis, allowing assessment of the degree of iron overload and examination of liver histology for the acute and chronic effects of iron overload. In the past two decades the role of liver biopsy in haemochromatosis has changed dramatically. Liver biopsy is rarely requested for two main reasons: (1) genetic testing for human haemochromatosis (HFE) mutations has proved to be very reliable in the diagnosis of haemochromatosis in Caucasian populations, and (2) the majority of patients with haemochromatosis are now diagnosed at an early stage well before permanent tissue damage occurs, so the need to assess tissue and organ damage has diminished. Liver biopsy continues to have a very important role in a small number of haemochromatosis patients for whom it has both diagnostic and prognostic implications. Liver biopsy is essential for the accurate assessment of patients with non-HFE haemochromatosis and in patients who have dual pathology. It is also useful where there appears to be a discrepancy between HFE genotypes and iron studies, particularly in HFE heterozygotes. Finally, liver biopsy is currently the ‘gold standard’ for the diagnosis of fibrosis and cirrhosis, although this is changing as noninvasive methods for assessing fibrosis become more reliable and available. Therefore, it is important that pathologists maintain their knowledge and skills in the use of liver biopsy in haemochromatosis and other iron storage disorders.