Living with Progressive familial intrahepatic cholestasis type 3
A rare genetic liver condition that starts in late infancy or childhood, with itching and jaundice.
Understanding Progressive familial intrahepatic cholestasis type 3
Symptoms usually begin in late infancy or early childhood, though GARD says onset can be any time in life. They may include severe itching, jaundice, slow growth, and an enlarged liver and spleen. The liver condition may progress to liver failure during childhood or adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Itching (pruritus)
- Yellow skin and eyes (jaundice)
- Enlarged liver and spleen
- Scarring of the liver (cirrhosis)
- Fluid buildup in the belly (ascites)
- Diarrhea and trouble absorbing food (malabsorption)
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 ABCB4 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 ABCB4 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: abcb4 progressive familial intrahepatic cholestasis; cholestasis, progressive familial intrahepatic 3; cholestasis, progressive familial intrahepatic, type 3; low gamma-gt familial intrahepatic cholestasis; mdr3 deficiency; pfic3
Patient organizations
- Progressive Familial Intrahepatic Cholestasis Advocacy and Resource NetworkProgressive familial intrahepatic cholestasis type 3 · United States
You are more than your diagnosis
Perspectives from people navigating life with Progressive familial intrahepatic cholestasis type 3.
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