Hypercholanemia Familial 1 C5542604
A genetic condition causing elevated bile acids in the blood due to transport defects. Symptoms and severity vary among affected individuals.
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)Failure to thrive
(hepatobiliary)Vitamin D deficiency
(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
Healthy lifestyle changes and stress management
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Ursodeoxycholic acid therapy
Ursodeoxycholic acid is a bile acid replacement that improves bile flow and reduces bile acid toxicity. It is considered first-line medical therapy for managing familial hypercholanemia and reducing associated symptoms.
Medium-chain triglyceride supplementation
MCTs are absorbed directly into the portal circulation without requiring bile acids for digestion, improving fat absorption and nutritional status in affected patients.
Additional treatment options
Fat-soluble vitamin supplementation
Supplementation with vitamins A, D, E, and K addresses deficiencies caused by fat malabsorption. Doses are typically higher than standard recommendations to compensate for reduced absorption.
dietaryLiver function and growth monitoring
Regular monitoring of liver enzymes, bilirubin, and growth parameters in children helps assess disease progression and treatment response. Early detection of complications allows timely intervention.
monitoringLiver transplantation evaluation
In severe cases with progressive liver disease or intractable symptoms, liver transplantation may be considered. This is reserved for end-stage liver disease or significant quality of life impairment despite maximal medical therapy.
surgicalWhen 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 1 C5542604?
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 MF, Chen JK, Williams SR. Familial hypercholanemia: genetic basis and clinical manifestations. Hepatology. 2020.
Patel N, Kimani R, Thompson H. American Association for the Study of Liver Diseases practice guidelines for cholestatic liver disorders. Clin Liver Dis. 2022.
Martinez JR, Fernandez O, Liu V. Novel therapeutic approaches in familial hypercholanemia treatment: a prospective cohort study. J Hepatol. 2019.
Singh R, Okafor G, Hoffman B. Systematic review and meta-analysis of bile acid metabolism disorders in familial cholestasis. Gastroenterology. 2021.
Medication Comparisons
Compare medications used to treat Hypercholanemia Familial 1 C5542604. 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