Progressive familial intrahepatic cholestasis (PFIC) is a complicated disease. If your child is diagnosed with it, you can expect to consult with many different specialists on their care team.
You’ll want to make sure that all these health professionals not only meet with you, but also keep in touch with each other to make sure your child receives the best care for their specific form of PFIC. “We all share a similar goal: to support patients and their caregivers and ensure that they receive the best tests and treatments for PFIC,” says William Balistreri, MD, director emeritus of the Pediatric Liver Care Center at Cincinnati Children’s Hospital in Cincinnati, Ohio.
Who’s on Your Care Team
The following health care professionals all play an important role to help you and your child manage PFIC:
Pediatrician. A pediatrician is your child’s primary care doctor. They will see them when they are sick, and for annual physicals, including routine vaccinations. The pediatrician may refer you to more specialists if they notice at least one of the below symptoms that could indicate liver disease, including PFIC:
- Itching
- Jaundice, or yellow skin or eyes
- Swollen abdomen
- Dark yellow or brown urine
- Pale, grey or white stools
- Easy bruising
- Poor growth
- Vitamin deficiencies (A, D, E, K)
Hepatologist (liver specialist). Hepatologists are medical doctors who diagnose, treat, and manage liver conditions like PFIC. “Consider them the quarterback of your child’s health care team,” says Balistreri. If you don’t have a pediatric hepatologist who lives in your area, your child’s care may be managed by a pediatric gastroenterologist who also has expertise in liver disease.
Your hepatologist is also usually the specialist who diagnoses PFIC. They may do so with the following blood tests:
- Genetic tests to look for PFIC mutations
- Liver function tests
- Bile acid tests. Kids with PFIC have high levels of bile acids in their blood — anywhere from 10 to 20 times higher than normal.
A hepatologist may also want to do a liver biopsy, where they take out a small piece of your child’s liver with a needle and look at it under a microscope to help them make a PFIC diagnosis.
Once PFIC is diagnosed, your child will usually see their hepatologist two to four times a year to make sure the condition is well managed, says Balistreri. They may recommend certain treatments to help control itching, such as ileal bile acid transport (iBAT) inhibitors. These drugs prevent the buildup of bile in your child’s liver and blood that causes extreme itching.
A hepatologist may also refer your child to other health care providers to help manage their PFIC, including a liver surgeon or liver transplant specialist for complications that could arise from PFIC.
Geneticist. If your pediatrician or your child’s hepatologist suspects PFIC, they may refer you to a geneticist or genetic counselor for counseling and testing. They will most likely suggest that testing start with a targeted gene panel to look for a specific group of genes that can cause PFIC. If that’s negative, they may recommend whole-exome sequencing (WES) or whole-genome sequencing (WGS), which look more closely at your child’s entire DNA.
If your child does have PFIC, your geneticist will most likely recommend that you and your partner, as well as any other children you have, get tested as well to see if any of you are also carriers of the gene variant. Most of the time, the PFIC gene mutation is inherited from both parents, but occasionally it can happen spontaneously on its own. If you are a carrier, you’ll be counseled on the chance that PFIC can happen again in future pregnancies.
Nutritionist. Kids with PFIC may have trouble absorbing certain fats and vitamins, which can cause poor growth and other health issues like vision problems, weak bones, and frequent bruising. A nutritionist can work with you to make sure your child gets the nutrients they need. They may also recommend a vitamin supplement — especially fat-soluble vitamins like A, E, D and K — or an infant or pediatric formula that has medium chain triglycerides (MCT), a form of fat that helps to boost vitamin absorption.
Many pediatric liver centers have a registered dietitian on staff to work with patients. Your hepatologist or pediatrician can also provide a referral.
Pediatric surgeon. Sometimes, children with PFIC need surgery to reduce the level of bile acids in their liver. These operations are done much less frequently now, since a new class of medications called iBAT inhibitors are now available that do the same thing, says Rima Fawaz, MD, medical director of the Pediatric Liver Transplant Program at the Yale School of Medicine in New Haven, Connecticut. “In the past, these surgeries have usually been done by a surgeon who specializes in the liver and bile ducts,” she adds.
Liver transplant specialist. Over 40% of people with PFIC will eventually need a liver transplant. “It’s really the last treatment option for patients with PFIC,” says Fawaz. Your hepatologist may refer you to a liver transplant specialist if your child has advanced cirrhosis (liver scarring), liver failure, liver cancer, or severe itching that doesn’t respond to medications and surgery.
Mental health counselor. The constant itching of PFIC can interfere with sleep and cause anxiety and stress, both for kids and their parents, says Balistreri. One study of caregivers of a person with PFIC found that more than 80% reported it impacted their sleeping and personal relationships. Your pediatrician or hepatologist may be able to provide a referral for counseling, to help both you and your child better cope with the significant mental stress of living with PFIC.
Nurse practitioner. The nurse in your hepatologist’s office may be your first line of contact if you have questions between doctor's visits. “They are usually in the trenches with patients, and well versed in questions you may ask, like how to manage itching that keeps you and your child up at night,” says Balistreri. They can also answer questions about medications, order tests to monitor your child’s condition, and refer you to local and national support resources, he adds.
How to Work With Your PFIC Care Team
It may feel overwhelming to work with so many different specialists to help manage your child’s PFIC. Here are some tips to make it easier:
Find a specialized center. Ideally, you will want to look for a children’s hospital that has a center for pediatric liver disease, advises Balistreri. They are likely to already have health care professionals on their medical team to address everything from nutrition management to mental health to the need for surgery or a transplant. The PFIC Network has an online hospital directory you can search.
Use online patient portals. This allows you to more easily share test results, office visit notes, and treatment plans with other specialists. Commonly used ones, like myHealth Online or MyChart, allow you to create a shared code and provide it to other health care professionals so that they can get one-time access to your health information. They can also write a note back to your other doctors to let them know what care they provided.
Make sure you have a nurse coordinator. If you get the bulk of your child’s care at one hospital or medical center, a nurse coordinator can help you make medical appointments, manage treatment plans, and keep various specialists updated.
Keep a journal — and bring it to all appointments. This way, you have a written record of all your child’s symptoms, and all of your concerns — for example, loss of sleep due to extreme itching. You’ll also want to note how helpful medications have been and any side effects. This way, all members of your medical team are kept informed and can work together to offer solutions.
Show Sources
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SOURCES:
William Balistreri, MD, director emeritus, Pediatric Liver Care Center, Cincinnati Children’s Hospital, Cincinnati, Ohio.
Rima Fawaz, MD, medical director, Pediatric Liver Transplant Program, Yale School of Medicine, New Haven, Connecticut.
American Academy of Pediatrics: “Definition of a Pediatrician.”
PFIC Network: “What is PFIC?” “PFIC Diagnosis,” “PFIC Treatments,” “Genetic Testing for PFIC,” “Talking With Your Doctor.”
GI Kids: “Progressive Familial Intrahepatic Cholestasis (PFIC).”
PLOS One: “Types of genotypes in progressive familial intrahepatic cholestasis and liver transplantation: A meta-analysis of observational studies.”
Orphanet Journal of Rare Diseases: “Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study.”
National Library of Medicine: “Progressive Familial Intrahepatic Cholestasis.”
