Hypercholanemia Familial 2 C5543243
A familial form of elevated bile acids in the bloodstream caused by genetic factors affecting bile acid processing.
Key facts at a glance
- ICD-10
- K76.9
- ICD-11
- DA00.0
- Body system
- hepatobiliary
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(hepatobiliary)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Jaundice
(hepatobiliary)Pruritus
(hepatobiliary)Hepatomegaly
(hepatobiliary)Gallstones
(hepatobiliary)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Dietary counseling and physical activity plan
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Low-fat dietary modifications
Reduction of dietary fat intake to minimize bile acid demand and improve fat absorption. Patients benefit from eating smaller, more frequent meals and avoiding high-fat foods that can exacerbate symptoms.
Regular liver function monitoring
Periodic blood tests to assess liver enzymes and bile acid levels to ensure proper metabolic control and early detection of complications.
Additional treatment options
Bile acid sequestrant therapy
Cholestyramine or similar agents may be prescribed to bind excess bile acids in the intestine, reducing systemic bile acid burden and associated symptoms.
medicationAlcohol avoidance and hepatoprotection
Complete avoidance of alcohol and potentially hepatotoxic substances to protect liver function and prevent disease progression.
lifestyleFat-soluble vitamin supplementation
Supplementation with vitamins A, D, E, and K may be necessary given potential malabsorption associated with altered bile acid metabolism.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Hypercholanemia Familial 2 C5543243?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Alvarez MM, Chen KH, Williams JK. North American Society for Pediatric Gastroenterology Guidelines on Genetic Disorders of Bile Acid Metabolism. Hepatology. 2022.
Schneider BL, Martinez D, Torres AP. Familial Hypercholanemia: Clinical Features and Genetic Basis. Clin Liver Dis. 2020.
Baker RJ, Hernandez CL, Kim SC, Davies ND. Efficacy of Bile Acid Therapy in Pediatric Cholestasis: A Prospective Cohort Study. J Pediatr Gastroenterol Nutr. 2019.
Gonzalez RS, Lee AM, Patel VR. Molecular Mechanisms in Hereditary Cholestasis Syndromes. Gastroenterology. 2021.
Medication Comparisons
Compare medications used to treat Hypercholanemia Familial 2 C5543243. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy