Living with Benign recurrent intrahepatic cholestasis type 2
A rare liver condition where bile does not flow well, causing itching and yellow skin in repeated episodes.
Understanding Benign recurrent intrahepatic cholestasis type 2
It causes itching and sudden episodes of yellowing of the skin and eyes, often starting in the first months of life. Some babies have blood clotting problems from low vitamin K, poor nutrient absorption, and slow weight gain. Milder forms cause repeated attacks without ongoing liver damage. Attacks may be set off by medicines or hormone changes, but sometimes triggers are unclear. Many people have inner-ear hearing loss.
Signs & symptoms
GARD describes these features, but doesn't say how common each is:
- Itching
- Yellowing of skin and eyes (jaundice)
- Bile that does not flow well (cholestasis)
- Enlarged liver
- Gallstones
- Hearing loss (sensorineural)
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
Changes in the ABCB11 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: bric type 2; bric2; cholestasis, benign recurrent intrahepatic, type 2; recurrent familial intrahepatic cholestasis 2
Patient organizations
- Progressive Familial Intrahepatic Cholestasis Advocacy and Resource NetworkBenign recurrent intrahepatic cholestasis type 2 · United States
You are more than your diagnosis
Perspectives from people navigating life with Benign recurrent intrahepatic cholestasis type 2.
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