Living with Progressive familial intrahepatic cholestasis type 1
A genetic liver condition starting in infancy, with jaundice, itching, and other body-wide features.
Understanding Progressive familial intrahepatic cholestasis type 1
It starts in the liver cells, and it also has features outside the liver. GARD lists onset in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Yellow skin and eyes (jaundice)
- Itching (pruritus)
- Enlarged liver (hepatomegaly)
- Gallstones
- Short stature
- Weak, soft bones (rickets)
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 ATP8B1 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 ATP8B1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: atp8b1-related intrahepatic cholestasis; byler disease; byler syndrome; byler's disease; cholestasis, progressive familial intrahepatic 1; cholestasis, progressive familial intrahepatic, type 1
Patient organizations
- Progressive Familial Intrahepatic Cholestasis Advocacy and Resource NetworkProgressive familial intrahepatic cholestasis type 1 · United States
You are more than your diagnosis
Perspectives from people navigating life with Progressive familial intrahepatic cholestasis type 1.
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