Living with Cholestasis, progressive familial intrahepatic, 4
A genetic liver condition where bile flow slows within the liver, caused by changes in the TJP2 gene.
Understanding Cholestasis, progressive familial intrahepatic, 4
In this condition, bile flow within the liver is slowed (intrahepatic cholestasis). GARD lists onset in infancy and childhood. Liver scarring (cirrhosis) and liver failure can occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slowed bile flow in the liver (intrahepatic cholestasis)
- Liver scarring (cirrhosis)
- Liver failure
- A type of liver cancer (hepatocellular carcinoma)
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.
- 3Consider genetic testing
Changes in TJP2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 changes in the TJP2 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cholestasis, progressive familial intrahepatic, type 4; pfic4; pfic4 - progressive familial intrahepatic cholestasis type 4; progressive familial intrahepatic cholestasis caused by mutation in tjp2; progressive familial intrahepatic cholestasis type 4; progressive familial intrahepatic cholestasis type iv
Patient organizations
- Progressive Familial Intrahepatic Cholestasis Advocacy and Resource NetworkCholestasis, progressive familial intrahepatic, 4 · United States
You are more than your diagnosis
Perspectives from people navigating life with Cholestasis, progressive familial intrahepatic, 4.
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