SNP Shot: Genomic Insights

Cryptogenic cirrhosis is a disease where the liver's ability to function is compromised. Individuals with this condition experience progressive, irreversible liver damage due to the development of scar tissue (cirrhosis) on the liver, usually appearing in middle to late adulthood.

The liver, an essential organ in the digestive system, aids in food processing, energy storage, and the removal of waste and toxins. While the body can repair minor liver damage, extensive or chronic damage can result in the replacement of healthy liver tissue with scar tissue.

Often, individuals in the initial phases of cryptogenic cirrhosis are asymptomatic because sufficient healthy liver tissue remains to maintain proper function. However, as scar tissue replaces more of the liver, symptoms begin to manifest. These can include tiredness, weakness, decreased appetite, weight loss, sickness, swelling (edema), visible enlarged blood vessels, and yellowing of the skin and eyes (jaundice).

Individuals affected by cryptogenic cirrhosis can develop high blood pressure in the portal vein, which carries blood to the liver (portal hypertension). It can also contribute to the onset of type 2 diabetes, although the underlying process is not fully understood. Furthermore, some individuals with cryptogenic cirrhosis may develop liver cancer (hepatocellular cancer).

Inheritance:

The majority of cryptogenic cirrhosis cases are not passed down through families. However, a family history of liver or autoimmune diseases elevates the risk of developing these conditions, potentially including cirrhosis. In some instances, individuals with an associated keratin gene mutation appear to have an increased risk following an autosomal dominant inheritance pattern. This means that having just one copy of the changed gene in each cell is enough to increase the risk. In these families, what is inherited is a greater susceptibility to cryptogenic cirrhosis, not the disease itself.