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

Bassett, Mark L.; Hickman, Peter E.; Dahlstrom, Jane E.

doi:10.1097/pat.0b013e3283490e04

Cited by 29 publications

(18 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…H63D is of greater clinical interest [25,27,30,32]. Having a prevalence of 10-20 % in all non-Asian populations [9,25,32,39], H63D is rarely pathological on its own.…”

Section: Hfe-associated Hereditary Hemochromatosismentioning

confidence: 96%

“…Types I-III are linked to altered or reduced expression of hepcidin [11,25,27], whereas type IV results from reduced iron export [1,28]. Mutations in HFE, HJV, HAMP, TFR2 and SLC40A1 have been linked to the various types of hemochromatosis [11,25,29], each displaying different onsets, severities and prevalences [2,4,9,25,27,[29][30][31][32][33] (Table 1).…”

Section: Genetics and Penetrancementioning

confidence: 97%

See 1 more Smart Citation

Recent advances in hemochromatosis: a 2015 update

2015

View full text Add to dashboard Cite

This review focuses on iron metabolism, the genetics of hemochromatosis, current treatment protocols and various screening methods. Even though the most common form of hereditary hemochromatosis, C282Y gene mutations in the HFE gene, has been extensively studied, novel mutations in both HFE and non-HFE genes have been implicated in this disease. These have important implications for the Asia-Pacific region. In overload, deposition of iron in various body tissues leads to toxic damage. Patients commonly present with non-specific symptoms of malaise and lethargy. Biochemical, imaging and genetic testing can be carried out to confirm diagnosis. Venesection forms the mainstay of treatment and at present cascade screening of affected families is recommended over population-level screening.

show abstract

“…H63D is of greater clinical interest [25,27,30,32]. Having a prevalence of 10-20 % in all non-Asian populations [9,25,32,39], H63D is rarely pathological on its own.…”

Section: Hfe-associated Hereditary Hemochromatosismentioning

confidence: 96%

Section: Genetics and Penetrancementioning

confidence: 97%

Recent advances in hemochromatosis: a 2015 update

2015

View full text Add to dashboard Cite

show abstract

“…Liver biopsy is performed in suspected patients with negative molecular analysis and ambiguous laboratory results; in addition, it may be used to assess the degree of liver fibrosis and cirrhosis and the degree of iron liver overload [3, 48]. Laboratory has a role also in the monitoring of patients through biochemical markers of (i) liver fibrosis [49]; (ii) liver protidosynthesis [50]; and (iii) hepatocarcinoma in patients with cirrhosis [51].…”

Section: Hereditary Hemochromatosismentioning

confidence: 99%

Genetic Diseases That Predispose to Early Liver Cirrhosis

Scorza

Elce

Zarrilli

et al. 2014

International Journal of Hepatology

View full text Add to dashboard Cite

Inherited liver diseases are a group of metabolic and genetic defects that typically cause early chronic liver involvement. Most are due to a defect of an enzyme/transport protein that alters a metabolic pathway and exerts a pathogenic role mainly in the liver. The prevalence is variable, but most are rare pathologies. We review the pathophysiology of such diseases and the diagnostic contribution of laboratory tests, focusing on the role of molecular genetics. In fact, thanks to recent advances in genetics, molecular analysis permits early and specific diagnosis for most disorders and helps to reduce the invasive approach of liver biopsy.

show abstract

“…Currently, it is performed in strongly suspected patients with negative genetics and ambiguous biochemical markers; in addition, it may be used to assess the degree of liver fibrosis and cirrhosis and the degree of iron liver overload [34]. However, noninvasive approaches to assess hepatic fibrosis based on biochemical markers or on MRI elastography [27, 35] are currently under study.…”

Section: Hereditary Hemochromatosismentioning

confidence: 99%

An Update on Laboratory Diagnosis of Liver Inherited Diseases

Zarrilli

Elce

Scorza

et al. 2013

BioMed Research International

View full text Add to dashboard Cite

Liver inherited diseases are a group of genetically determined clinical entities that appear with an early chronic liver involvement. They include Wilson's disease (hepatolenticular degeneration), hereditary hemochromatosis, and alpha-1-antitrypsin deficiency. In addition, cystic fibrosis, although it is not specifically a liver disease, may cause a severe liver involvement in a significant percentage of cases. For all these pathologies, the disease gene is known, and molecular analysis may contribute to the unequivocal diagnosis. This approach could avoid the patient invasive procedures and limit complications associated with a delay in diagnosis. We review liver inherited diseases on the basis of the genetic defect, focusing on the contribution of molecular analysis in the multistep diagnostic workup.

show abstract

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

Cited by 29 publications

References 28 publications

Recent advances in hemochromatosis: a 2015 update

Recent advances in hemochromatosis: a 2015 update

Genetic Diseases That Predispose to Early Liver Cirrhosis

An Update on Laboratory Diagnosis of Liver Inherited Diseases

Contact Info

Product

Resources

About