When your child is diagnosed with progressive familial intrahepatic cholestasis (PFIC), it can feel like you are suddenly learning an entirely new language. You’ll be hearing terms like cholestasis, bile acids, genetic testing, and liver function tests all while trying to make sense of what the diagnosis means for your child. The disease affects how bile moves through the liver and into the gastrointestinal tract.
While some children develop symptoms as infants, others may not show signs until later in childhood. The severity of symptoms and how the disease progresses can also vary, making it difficult to predict exactly what the future will look like for each child.
One of the most important things to understand about PFIC is that every child’s experience can be different and that uncertainty can be challenging for families. Staying informed, tracking changes, working with your child’s care team, and preparing for different stages of life can help you feel more confident navigating PFIC.
Understanding PFIC
PFIC is caused by a genetic mutation that affects how bile moves through the liver and into the gastrointestinal tract. When the flow of bile is reduced or stops, it builds up in the liver, causing a condition called cholestasis. Cholestasis can lead to liver damage.
There are multiple types of PFIC, and each one is caused by a mutation in a different gene. Elizabeth Rand MD, medical director of the liver transplant program at Children’s Hospital of Philadelphia, notes that each type of PFIC is associated with slightly different symptoms.
“Some types of PFIC are more severe than others,” she says. “But even within a single type, there can be variation in severity.”
It means that two children diagnosed with PFIC can experience the disease very differently.
Regular follow-up with a pediatric hepatologist (a doctor specializing in liver conditions in children) can help your care team understand what is happening with your child and make treatment decisions based on their individual needs.
Children diagnosed with a type of PFIC known as F1C1 deficiency may also have short stature, deafness, diarrhea, pancreatitis, and low levels of vitamins A, D, E and K. The symptoms associated with a type of PFIC called BSEP deficiency tend to be more severe and are at increased risk of a liver cancer called hepatocellular carcinoma and often develop liver failure in their first few years of life.
Symptoms can change over time, and it can be helpful to keep written records of what symptoms you notice between medical appointments. You may want to track questions such as:
- Are there times of day when symptoms seem worse?
- Has their appetite or energy levels changed?
- Are symptoms interfering with sleep, school activities, friendships?
How PFIC Changes With Age
PFIC is a progressive disease and ongoing monitoring is an important part of care. Your child’s health care team may use blood tests, imaging, physical exams, and other evaluations to monitor liver health and watch for changes.
Some children with PFIC experience progressive liver damage over time while others may experience a slower disease progression. In some cases, children can experience complications of chronic liver disease like impaired liver function, scarring (cirrhosis), or need a liver transplant.
Rand notes that the word “progressive” in PFIC is apt as the disease tends to get worse over time and requires ongoing care and adjusting management strategies as children get older. Infants, she notes, might need nasogastric feedings (a feeding tube through the nose) while older children will need a high-fat diet to combat malnutrition.
“Find a doctor you can work with,” Rand advises.
Strategies to Help Your Child Thrive
The symptoms of PFIC can affect all aspects of your child’s life from sleep and mood to school participation and family routines.
Ease the itch. Managing itchiness is the biggest challenge of PFIC. Rand recommends keeping your child’s nails short, putting socks over their hands, or rubbing their skin with a coarse washcloth to help.
Prioritize nutrition. Diets that are high in fat, particularly medium-chain triglycerides that don’t require bile for absorption, can help overcome deficiencies in fat-soluble vitamins that are common in PFIC, according to Rand. Babies might benefit from a feeding tube.
“No one wants to do [a feeding tube],” Rand admits. “But, wow, it really helps.”
Talk about treatment options. The treatment options for PFIC can include medication and surgery to reduce bile salts to prevent liver damage. Researchers are making significant progress in developing new drugs for PFIC, but there is still not much data on how those treatments work long-term. Children with PFIC might need a liver transplant.
“If medical treatment doesn't work, liver transplant, though a frightening prospect at first, is a good option which can restore health,” Rand says.
Seek support. Connect with other families affected by PFIC for additional support. Rare disease communities can help parents find practical advice, learn about new research, and feel less alone. Organizations such as the National Organization for Rare Disorders and the American Liver Foundation provide educational resources and connections for families affected by rare liver diseases.
Prepare for Day Care and School
As your child enters day care or school, communication becomes an important part of PFIC management. Caregivers must be prepared to give your child medications and stick with a special diet, says Rand.
Once your child starts school, talk to their teachers about how PFIC could impact learning and behavior.
“Itching can cause issues for older kids in school for concentration and test taking,” Rand says. “Many kids will have an individualized education program or IEP, which is the best way to address this because needs and appropriate accommodations will vary for each child.”
Children whose skin or eyes are yellow due to jaundice may also be bullied for their appearance and Rand suggests talking to teachers about how to manage the behavior.
Plan for the Future
PFIC is an inherited condition and some families may choose to meet with a genetic counselor to better understand the genetics of PFIC and offer testing options to determine the likelihood of PFIC occurring in future pregnancies.
Genetic testing isn’t just for family planning. You may opt for genetic testing to identify PFIC early, which can lead to faster treatments that could slow disease progression. Identifying the genetic cause of PFIC can also help lead to more personalized treatment approaches and help guide decisions about transplant options.
Living with PFIC means adapting as your child grows. There may be unexpected challenges and moments that feel overwhelming, but there are also opportunities to help your child build confidence, participate in everyday activities and access the support they need to thrive with PFIC.
The right support, preparation, and ongoing advances in care can help you focus on helping your child live a full and meaningful life.
Show Sources
Photo Credit: E+/Getty Images
SOURCES:
Elizabeth Rand MD, medical director, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania.
Children’s Liver Disease Foundation: “Progressive Familial Intrahepatic Cholestasis.”
National Institutes of Health Genetic and Rare Diseases Information Center: “Progressive familial intrahepatic cholestasis.”
Orphanet Journal of Rare Diseases: “Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review.”
JHEP Reports: “Opinion Paper on the diagnosis and treatment of progressive familial intrahepatic cholestasis.”
World Journal of Gastroenterology: “Current and future therapies for inherited cholestatic liver diseases.”
Expert Opinion on Emerging Drugs: “Emerging drugs for the treatment of progressive familial intrahepatic cholestasis: a focus on phase II and III clinical trials.”
National Organization for Rare Disorders: “Ways We Provide Community Support.”
American Liver Foundation: “Online Support Groups.”
PFIC Network: “Genetic Testing for PFIC.”
