Living with Progressive familial intrahepatic cholestasis
A group of genetic liver conditions in which bile can't flow normally, causing itching and jaundice.
Understanding Progressive familial intrahepatic cholestasis
Bile is a digestive fluid. When it builds up in liver cells, it causes liver disease. Symptoms usually begin in infancy. There are three known types, PFIC1, PFIC2, and PFIC3, each with a different genetic cause and somewhat different features.
Signs & symptoms
Symptoms vary from person to person and by type. GARD lists these among the most common:
- Severe itching
- Yellow skin and eyes (jaundice)
- Slow growth and weight gain (failure to thrive)
- Enlarged liver and spleen
- Short stature
- Easy bruising or bleeding (coagulation problems)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Progressive Familial Intrahepatic Cholestasis Advocacy and Resource Network
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says each type has a different genetic cause. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cholestasis, progressive familial intrahepatic; fatal intrahepatic cholestasis; pfic; pfic - progressive familial intrahepatic cholestasis; progressive family intrahepatic cholestasis; progressive intrahepatic cholestasis
Patient organizations
- Progressive Familial Intrahepatic Cholestasis Advocacy and Resource NetworkProgressive familial intrahepatic cholestasis · United States
You are more than your diagnosis
Perspectives from people navigating life with Progressive familial intrahepatic cholestasis.
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