Liver transplantation is a life-saving surgical operation for end-stage liver disease in which a diseased, non-functional liver is replaced with a whole liver, or part of one, obtained from a matched donor.

During the transplantation, all or part of a healthy liver is surgically implanted in the patient’s body after the diseased organ has been removed. The liver is a highly regenerative organ and is capable of growing back to its normal size.

Liver transplantation and Gaucher disease

Liver enlargement or hepatomegaly is observed in 60% to 80% of Gaucher disease patients due to the formation of Gaucher cells in which a fatty substance called glucocerebroside accumulates. This accumulation happens because the enzyme glucocerebrosidase, which is normally responsible for breaking down glucocerebroside, is not functioning properly in Gaucher disease patients.

In most cases, enzyme replacement therapy (ERT) — where functional enzymes are given to patients — can reduce the formation of Gaucher cells and hepatomegaly. However, in some cases, patients do not respond to ERT.

Gaucher cells can also alter the immune system, making the liver prone to viral infections and autoimmune disease. Massive infiltration of Gaucher cells can obstruct the blood flow in the portal vein (the blood vessel carrying blood to the liver) causing portal hypertension and cirrhosis, a late-stage liver disease with scar tissue formation. These pathologies can severely disrupt normal liver functions and may only be resolved with liver transplantation.

There are risks associated with liver transplantation such as bleeding, infections, rejection of the transplanted liver by the recipient’s immune system, blocked blood vessels, leaky or blocked bile ducts, and sub-optimal functioning of the grafted organ. There is also a risk that Gaucher cells start accumulating in the transplanted liver.

Case studies

In a study published in the American Journal of Transplantation, four Gaucher disease patients who had liver failure or chronic hepatitis C infection and autoimmune disease were successfully treated with liver transplantation. All four patients showed excellent outcomes with no evidence of Gaucher-related pathology in the graft for up to 10 years after the operation while they were being treated with ERT.

In another study published in the journal Hepatology, a 42-year-old man with Gaucher disease and hepatomegaly underwent liver transplantation, which completely treated all aspects of his liver dysfunction. After the surgery, the man had a 61% increase in glucocerebrosidase enzyme activity, and an elevated glucocerebroside level that was 15% of his pretransplant level.


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