Progressive familial intrahepatic cholestasis type 5 (PFIC5) is a rare inherited disorder that affects the liver. It is caused by a mutation in the ABCB11 gene, which is responsible for the production of a protein called bile salt export pump (BSEP). This protein helps to transport bile salts out of the liver, and when it is not functioning properly, bile salts can build up in the liver, leading to liver damage and other complications. Symptoms of PFIC5 include jaundice, itching, poor growth, and liver failure. Treatment options include medications, dietary changes, and liver transplantation.

The symptoms of Progressive familial intrahepatic cholestasis type 5 (PFIC5) vary from person to person, but may include:

-Jaundice (yellowing of the skin and eyes)
-Itching
-Dark urine
-Pale stools
-Abdominal pain
-Loss of appetite
-Weight loss
-Fatigue
-Nausea
-Vomiting
-Enlarged liver
-Enlarged spleen
-Gallstones
-Ascites (fluid buildup in the abdomen)
-Fever
-Joint pain
-Rash

Progressive familial intrahepatic cholestasis type 5 (PFIC5) is a rare genetic disorder caused by mutations in the ABCB11 gene. This gene provides instructions for making a protein that helps transport bile acids out of the liver. Mutations in this gene lead to an accumulation of bile acids in the liver, which can cause liver damage and other symptoms.

The primary treatment for Progressive familial intrahepatic cholestasis type 5 (PFIC5) is supportive care. This includes dietary modifications, such as avoiding foods high in fat and cholesterol, and avoiding alcohol. Medications such as ursodeoxycholic acid (UDCA) and rifampicin may be prescribed to reduce bile acid levels and improve liver function. In some cases, a liver transplant may be necessary.

1. Genetic mutation: Progressive familial intrahepatic cholestasis type 5 is caused by a mutation in the ABCB11 gene.

2. Family history: Having a family history of PFIC5 increases the risk of developing the condition.

3. Age: PFIC5 is more common in infants and young children.

4. Gender: PFIC5 is more common in males than females.

5. Ethnicity: PFIC5 is more common in people of Ashkenazi Jewish descent.

At this time, there is no cure for Progressive familial intrahepatic cholestasis type 5 (PFIC5). However, there are medications that can help manage the symptoms of PFIC5. These medications include Ursodeoxycholic acid (UDCA), which helps reduce bile acid levels, and rifampicin, which helps reduce inflammation in the liver. Additionally, some patients may benefit from a liver transplant.