Is liver disease hereditary? In what ways one should take precautions?

Liver disease has the potential to be hereditary, meaning it can be passed down through families. Various factors such as viral infections, excessive alcohol consumption, and obesity can also contribute to liver damage.

Prolonged exposure to these detrimental influences can result in the development of cirrhosis, a condition characterized by liver scarring.

Left untreated, cirrhosis may progress to liver failure, which poses a significant threat to life. Nonetheless, timely intervention and treatment can afford the liver an opportunity to regenerate and heal, underscoring the importance of early medical attention in managing liver ailments.

Genetics
A changed gene from the parents can cause substances to build up in the liver. This can cause liver damage. Genetic liver diseases include:
• Hemochromatosis.
• Wilson's disease.

• Alpha-1 antitrypsin deficiency.

Various tests that help in taking precautions:
A1ALC Test: It stands for Alpha-1-Antitrypsin Prototype S/Z by LC-MS/MS, serum examination, offers conclusive findings in 97% of instances. However, in the remaining 3% where there's discordance between the mass spectrometry prototype and quantitative serum levels, additional phenotyping is automatically initiated and conducted to ensure the accuracy and completeness of the analysis.

HFET Test: HFET which is known as Hereditary Hemochromatosis, HFE Variant Analysis, offers a comprehensive assessment by identifying the two prevalent disease-causing mutations, C282Y and H63D. Additionally, it includes the reporting of the S65C mutation, specifically when it's detected as part of the C282Y/S65C genotype. This ensures a thorough evaluation of potential genetic variants associated with hereditary hemochromatosis, providing detailed insights into the individual's genetic predisposition to the condition.

CERS Test: CERS, which is also known as Ceruloplasmin, Serum, serves as the primary screening method to detect deficiencies in ceruloplasmin levels. In roughly 95% of causes related to Wilson disease, ceruloplasmin levels are observed to be below the standard range.

CUS1 Test: Copper, Serum, is utilized as the initial diagnostic tool to identify conditions such as Wilson disease, primary biliary cholangitis, and primary sclerosing cholangitis.

CUT Test: Copper, Liver Tissue, involves liver biopsy and serves as a valuable tool in aiding the interpretation of conflicting biochemical or molecular findings.

Video
WNDZ Test: Wilson Disease, ATP7B Full Gene Sequencing with Deletion/Duplication, provides a comprehensive analysis of the ATP7B gene to validate the diagnosis of Wilson disease. This enables the screening of siblings who may benefit from early intervention before symptoms manifest.

Conclusion:
The complex interactions between environmental and genetic factors in liver illness highlight the significance of early intervention and thorough testing. Thanks to developments in medical technology, a variety of tests can now provide accurate information about biochemical markers and genetic predispositions linked to liver diseases such as hemochromatosis, Wilson's disease, and alpha-1 antitrypsin deficiency.

Proactively managing liver health can be enabled for both individuals and healthcare providers by timely detection with tests such as A1ALC, HFET, CERS, CUS1, CUT, and WNDZ. People can considerably lower their chance of developing liver damage and the possibility that it will advance to more serious illnesses like cirrhosis or liver failure by treating genetic susceptibilities and reducing environmental factors. The efficient management of liver illnesses ultimately depends on giving early medical attention a high priority and implementing preventative measures, which improve outcomes and quality of life for patients and their families.

(Author: Dr. B V Sriram, Consultant – Gastroenterology, Manipal Hospital Goa)