Treatment for Progressive Familial Intrahepatic Cholestasis

Both drugs can cause side effects like diarrhea, stomach pain, vomiting, and, in the case of odevixibat, elevated liver enzymes. But they’ve been a game changer for kids with PFIC. “They work very well to relieve itching, and we also think they may help to slow down liver damage,” says Balistreri.

There are other drugs to help manage itching, but these are prescribed less frequently now since the iBAT inhibitors are available, says Balistreri. But if your child can’t tolerate them, your doctor may recommend:

• Rifampin (Rifadin, Rimactane). It’s sometimes used with UDCA to relieve itching. 
• Sertraline (Zoloft). This medication is a selective serotonin reuptake inhibitor (SSRI) which can help to reduce itch signals in the nervous system.
• Ursodeoxycholic acid (UDCA). This drug improves itchiness by improving bile flow into the small intestines. 
• Antihistamines like diphenhydramine (Benadryl) and hydroxyzine (Vistaril). They block the action of histamine to help reduce itching. Since they cause drowsiness, they also make it easier for your child to sleep, says Balistreri. 

Surgery for PFIC

Doctors used to recommend surgery a lot for kids who have PFIC. “It’s rarely done now because it’s similar to the iBAT inhibitors, which work extremely well,” explains Balistreri. But sometimes it’s offered to children who don’t respond to the iBAT medications or who experience severe side effects from them. It may reduce itching because it helps your body get rid of bile acid  There are three main ways it can be done:

• External biliary diversion.  A surgeon creates an ostomy or hole in the abdomen that allows bile to drain from the small intestine into a small bag, called an ostomy bag, that’s outside of the belly. 
• Internal biliary diversion. A surgeon connects the gall bladder to the large intestine with a piece of bowel. 
• Ileal exclusion. A surgeon connects part of the small intestine to the colon, so that bile bypasses about 15% of your child’s small bowel. Since less bile is absorbed by the small bowel, more is brought back into the liver. 

Both internal biliary diversion and ileal exclusion don’t require an ostomy bag, which is worn on your child’s stomach to collect stool. But they each carry their own risks: an IBD may raise the risk of a bile infection, while an ileal exclusion may lead to a vitamin B12 deficiency.

Liver Transplants for PFIC

Over 40% of kids with PFIC will have a liver transplant at some point. The risk often depends on the type of mutation they have. PFIC is a genetic disease. It’s caused by two copies of a gene mutation that affects a protein called BESP. Research shows that people who have mutations that completely eliminate the BESP protein are almost three times as likely to eventually need a liver transplant than those with milder mutations.

A liver transplant is a type of surgery where an injured liver is replaced with a healthy donated one. It’s a major operation that carries many risks, so it’s only recommended if a patient develops severe cirrhosis, or liver scarring, liver failure, or liver cancer. They’ll need to be followed closely by doctors afterward and  take antirejection medications for the rest of their lives.

Your child’s response to a liver transplant often depends upon the type of PFIC they have. “PFIC1 affects the entire body, so a liver transplant won’t address other issues, like hearing problems, diarrhea from inflammation in their pancreas, and growth issues,” explains Balistreri. Kids with PFIC2 —a more common type — often have a better response.

“We hope that fewer patients with PFIC end up with the need for a liver transplant because they’re on iBAT medications, which may help limit liver damage,” says Balistreri.

Lifestyle and PFIC

There are a few things you can do at home to help your child better manage their itch. They include:

• Bathe kids in lukewarm water.
• Apply a cold compress to the itchy area.
• Avoid excessive heat. Use air conditioning and take cool showers or baths.
• Moisturize their skin regularly. When your child’s skin is dry, it can worsen itch.

How to Find a PFIC Specialist

If your child has PFIC, they should be under the care of a pediatric hepatologist — a liver specialist. These are usually found in major children’s hospitals and academic medical centers. The PFIC Network also has a global hospital director of centers with experience treating PFIC.