Living with Progressive familial intrahepatic cholestasis type 2
A rare genetic liver condition that begins in infancy with itching, jaundice, and slow growth.
Understanding Progressive familial intrahepatic cholestasis type 2
Signs usually begin in infancy. They may include severe itching, yellow skin and eyes (jaundice), and slow growth and weight gain (failure to thrive). They may also include high blood pressure in the vein that supplies the liver (portal hypertension) and an enlarged liver and spleen. People with PFIC2 also have a higher chance of a type of liver cancer called hepatocellular carcinoma.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features:
- Severe itching
- Yellow skin and eyes (jaundice)
- Slow growth and weight gain (failure to thrive)
- High blood pressure in the liver's vein (portal hypertension)
- Enlarged liver and spleen (hepatosplenomegaly)
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 ABCB11 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
This condition is caused by changes in the ABCB11 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: abcb11 progressive familial intrahepatic cholestasis; bsep (bile salt export pump) deficiency; bsep deficiency; cholestasis, progressive familial intrahepatic 2; cholestasis, progressive familial intrahepatic, type 2; pfic2
Patient organizations
- Progressive Familial Intrahepatic Cholestasis Advocacy and Resource NetworkProgressive familial intrahepatic cholestasis type 2 · United States
You are more than your diagnosis
Perspectives from people navigating life with Progressive familial intrahepatic cholestasis type 2.
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