A recent article shared the story of one family’s journey with multiple family members being diagnosed with progressive familial intrahepatic cholangitis (PFIC) after years of medical issues.
Progressive Familial Intrahepatic Cholangitis (PFIC)
Progressive familial intrahepatic cholestasis is a group of liver conditions that are caused by defects in the biliary epithelial transporters, which are cells used in the regulation and transportation of bile out of the liver. PFIC affects mainly children.
Cause:
PFIC is inherited through mutated genes.
Symptoms:
The onset of PFIC is usually before age 2, but patients have been diagnosed with the PFIC even into adolescence. The first signs of the condition are cholestasis (obstruction of bile from the liver), jaundice, and failure to thrive. In addition, intense itching is characteristic of the disease.
Fat-soluble vitamin deficiencies are common in untreated patients, which can in turn lead to all kinds of problems and secondary symptoms of PFIC, such as vision problems, broken bones, and balance problems.
Suicide has also been linked to the disease in patients who present PFIC in adolescence.
Treatments:
The initial treatment for PFIC is supportive and focused on the management of the symptoms of the disease. Drug agents such as ursodeoxycholic acid and rifampin are used to treat cholestasis and pruritus (itching).
In addition to these treatments, a partial external biliary diversion (PEBD) procedure may be done to divert bile from the gallbladder into an external bag, or surgery to remove the bile acids from the body completely has been successfully done.
Lastly, patients can supplement all of this treatment with fat-soluble vitamins and medium-chain triglycerides (MCTs), such as those in milk fats.
In severe cases of PFIC, a liver transplantation may be needed.
The Bonczyk’s Story
Charles and Rosalie Bonczyk had their first child, Michelle, back in 1991. A seemingly healthy child, she lived a normal life until she was three years old. At only three years old, and after a number of scary specialist visits, Michelle was found to have cirrhosis of the liver and thus would need a liver transplant to survive.
Michelle’s parents were frustrated that doctors were unable to tell them what caused this diagnosis, especially when it was typically only seen in adults with end-stage liver disease. Their baby girl had gone from hitting every childhood milestone to needing a major transplant just to survive. However, doctors reassured them that this was likely an isolated incident.
Years after their daughter’s scary incident, the Bonczyk’s had their son Charles in 1998. Charles had a routine childhood without any medical scares until he was eighteen years old. At eighteen, he started vomiting blood and was found to have enlarged veins in his esophagus and an enlarged gallbladder. After hearing this news, and remembering all they went through with their daughter, the Bonczyk’s decided to have their son undergo genetic testing.
The results of the genetic testing showed that Charles had progressive familial intrahepatic cholestasis (PFIC). Michelle would later also test positive for this condition as well.
A Diagnosis
The Bonczyk’s were unbelievably relieved to have a diagnosis for all of the medical issues their children had been having. Although they wished they could have had the diagnosis sooner, it was still a relief nonetheless.
Michelle underwent her liver transplant at twelve years old, and at thirty years old she is still feeling good. She recognizes her limits due to her condition but is grateful there are ways to manage her symptoms so she can live a fairly normal life.
Charles, who is now twenty-three, has not had such success with managing his condition. He has suffered from more complications and now needs a liver transplant. However, his MELD score (scoring system for assessing the severity of chronic liver disease) disqualifies him from getting a transplant currently. Unfortunately, it could take years before he is able to receive a liver.
Using Their Story for Good
For Charles’s father’s birthday a month ago, the family decided to hold a Facebook fundraiser to raise awareness and money for the American Liver Foundation. The family is an advocate for families to do genetic testing if possible before starting a family and for learning about rare diseases. They hope that by increasing awareness and funding more research, a world without liver disease can exist.
