Have you been diagnosed as an adult?
As genetic testing becomes more accessible, more patients are finding out they have genetic conditions as the root cause of symptoms. Persistent health symptoms such as gallstones or unusual liver lab results may lead to advanced testing and genetic cholestasis identification.
From infants to adults, the same genes are responsible. However, in adults, changes to the genes in question have been observed to lead to cases that are generally milder and, in many patients, non-progressive. It is also important to note that not all adults are newly experiencing symptoms—some have lived with unrecognized signs of the condition for years or even decades. As genetic testing and disease awareness improve, these patients are finally receiving answers that explain a lifetime of symptoms.
The condition is rare, the number of patients is small, and there have not been large clinical trials in adults. Instead, current treatments are based on studies in pediatric patients and small groups of adults (as well as what doctors have learned over the years from caring for patients with similar conditions). While new treatments designed for specific gene mutations are being developed, today’s care mainly focuses on lowering the buildup of bile acids and protecting the bile ducts from further damage.
PFIC is an umbrella term for a group of rare diseases, some more known to cause cholestasis in adults than others
Recently, we summarized and simplified a medical research article on “Genetic Cholestasis in Adults” in our Research Library.
Dr. Silvia Vilarinho discusses the diagnosis and onset of PFIC in adults in a 40-minute video, recorded at the 2024 PFIC Family & Scientific Conference
Olivia shared her journey of being diagnosed with PFIC as an adult and how she is managing her condition now.