Recently, PFIC Voices released a guide for progressive familial intrahepatic cholestasis (PFIC) patients and families that will help them understand the condition and how they can get support.

Progressive Familial Intrahepatic Cholestasis (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.

Diagnosis:

PFIC is diagnosed after a thorough medical and family history is taken and a physical examination is performed. In addition to these methods, laboratory tests of blood, urine, and other tissues are done to confirm that cholestasis is present, and a liver biopsy is usually needed afterwards to find out if scarring has occurred.

Genetic tests are also available for these forms of liver disease.

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.

About the Pamphlet

The pamphlet, which is about 12 pages long, starts by introducing the disease and all that comes with a diagnosis. Then, it moves into the signs patients and their families should look out for, and the potential symptoms that come along with the disease. The pamphlet then goes into getting a diagnosis, how to manage the disease, and the options that are available to families as treatments.

The pamphlet also features a few patient stories and quotes from medical professionals and experts on the disease. The guide ends with a list of resources for patients and families, with links directly to said resources.

The pamphlet is an excellent resource for patients and families who have been diagnosed with PFIC. Being diagnosed with PFIC can be overwhelming, and this resource will help those affected to learn more about their disease and the resources they have available to them.

If you would like to check out the pamphlet, you can here.

About PFIC Voices

PFIC Voices was created by Albireo Pharma, a rare disease company that concentrates on the development of novel bile acid modulators as a way to treat rare pediatric and adult liver diseases. The PFIC Voices platform was created in order to educate about PFIC, and they are dedicated to helping families understand the disease. They work with other advocacy groups in order to facilitate the most useful resources to those who need to know about PFIC.