Adults who are living with PFIC may be newly diagnosed, or they may have been living with PFIC since childhood.
Genetic cholestatic liver diseases—once thought to affect only children—are now increasingly recognized in adults. Up to 30% of adults with otherwise unexplained cholestasis may have an underlying genetic cause. Diagnosis in adults is difficult for several reasons: symptoms may come and go, symptoms may be very mild, and standard imaging tests might look normal. Other liver conditions share similar symptoms and interpreting genetic testing results in adults is complicated. Lifestyle factors, other health conditions, and medications can all play a role.
In spite of these challenges, adults are finding out they have genetic cholestasis and they’re eager for information. That’s why we’ve created this section of the site.
Children diagnosed with PFIC grow into adults with the condition. There is no known cure, and maturing patients need resources for a lifetime of condition management. Programs and resources have been developed for this specific transition—from navigating new systems and specialists to tools that help you prepare for the journey ahead. So, if you are a patient transitioning from pediatric care—this page is for you!
Child, teen or adult, we’re here to give you the information and community you need for your journey. Whether you are stepping into a new care team or simply looking for others who understand your experience, you are not alone—and we invite you to share your story with others.