Living with Low phospholipid associated cholelithiasis
A rare inherited liver condition with low phospholipids in bile and repeated gallstones that start before age 40.
Understanding Low phospholipid associated cholelithiasis
The gallstones cause symptoms and develop before the age of 40. It is noticed in adults.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Gallstones (cholelithiasis)
- Belly pain from gallstones (abdominal colic)
- Bile flow problems in the liver (intrahepatic cholestasis)
- Overweight
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 rare disease patient organizations for support
- 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
It is caused by changes in the ABCB4 gene. It can be inherited in an autosomal dominant or autosomal recessive way.
Also known as: abcb4 gene mutation-associated cholelithiasis; abcb4-related cholelithiasis; cholelithiasis with abcb4 gene mutation; cholelithiasis, low phospholipid-associated; gallbladder disease 1; gallbladder disease type 1
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Low phospholipid associated cholelithiasis.
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