Half of Children with PFIC will Receive a Liver Transplant by Age 10, Study Finds

An international team of researchers studying the effects of progressive familial intrahepatic cholestasis (PFIC) in children have found that half of the children had received a liver transplant by age 10, reports Medical Xpress. They also found that surgical biliary diversion can be an effective treatment for those with PFIC2.

PFIC is a very rare genetic condition that prevents bile from draining from the liver. It tends to become apparent soon after birth (around 6 months), but there are exceptions where children can develop their first symptoms several years later. The disease is often associated with significant liver scarring and liver failure by the age of 10. Symptoms of the condition may include an enlarged liver and/or spleen, fatigue, nausea, vomiting, poor weight gain and growth, intense itching caused by bile salt build-up, and jaundice. PFIC can also result in complications, such as liver failure, liver cancer, gallstones, and difficulty absorbing certain nutrients. The condition is usually treated through a combination of drugs and surgery. Medicines may be used to replace nutrients and reduce itching, and a surgical procedure called a partial external biliary diversion, which uses a short segment of the intestine as a passage for bile, may be used to remove bile from the liver in patients with little liver scarring. A liver transplant is also a possible treatment for patients who have more severe liver scarring.

The NAPPED Consortium carried out the research into liver transplantation and biliary diversion treatments. The NAPPED Consortium is a study group designed to reach a better understanding how PFIC (types PFIC1 and PFIC2) progresses in patients. The study was retrospective and looked at data from 42 children with PFIC1 and 184 children PFIC2. It found that by the age of 5, 27% of the first group and 36% of the second had undergone liver transplantation and that by age 10 these figures increased to 49% and 52% respectively.
A second finding of the study was that biliary diversion treatment was effective in children with mild to moderate PFIC2. For these patients, the surgical procedure was associated with a 63% increase in the number of surviving children with their own livers, compared to those who did not receive biliary diversion treatment. However, data for its effect on children with PFIC1 is still being collected.
It is hoped that these findings will help patients and doctors to better understand the treatment options available to those with PFIC1 and PFIC2.

Anna Hewitt

Anna Hewitt

Anna is from England and recently finished her undergraduate degree. She has an interest in medicine and enjoys writing. In her spare time she likes to cook, hike, and hang out with cats.

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