Living with Idiopathic malabsorption due to bile acid synthesis defects
A rare intestinal condition with too many bile acids, which leads to long-lasting watery diarrhea.
Understanding Idiopathic malabsorption due to bile acid synthesis defects
GARD describes the cause as unknown. The main feature is long-lasting watery diarrhea.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes:
- Long-lasting watery diarrhea
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
GARD says changes in genes cause this condition, but the cause is described as unknown. It is linked to the body making too many bile acids.
Also known as: idiopathic bile acid malabsorption; intestinal malabsorption due to bile acid synthesis defect
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 Idiopathic malabsorption due to bile acid synthesis defects.
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