Living with Benign recurrent intrahepatic cholestasis type 1
A liver condition with repeated episodes of poor bile flow, caused by changes in the ATP8B1 gene.
Understanding Benign recurrent intrahepatic cholestasis type 1
Episodes last weeks to months, with usually no symptoms between them for weeks to years. Most people have a first episode in their teens or twenties. It often starts with severe itching, followed by yellowing of the skin and eyes (jaundice) a few weeks later. It generally does not cause lasting liver damage, though it can rarely progress to progressive familial intrahepatic cholestasis (PFIC).
Signs & symptoms
GARD describes these symptoms:
- Severe itching (pruritus)
- Yellowing of skin and eyes (jaundice)
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
Changes in the ATP8B1 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: atp8b1 benign recurrent intrahepatic cholestasis; benign recurrent intrahepatic cholestasis caused by mutation in atp8b1; bric type 1; bric1; cholestasis, benign recurrent intrahepatic, type 1; summerskill syndrome
Patient organizations
- Progressive Familial Intrahepatic Cholestasis Advocacy and Resource NetworkBenign recurrent intrahepatic cholestasis type 1 · United States
You are more than your diagnosis
Perspectives from people navigating life with Benign recurrent intrahepatic cholestasis type 1.
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