Familial Hypobetalipoproteinemia 2 C1857970
A genetic lipid disorder causing low cholesterol and apolipoprotein B levels. Usually mild and asymptomatic, managed with dietary monitoring.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Diarrhea
(gastrointestinal)Fatigue or weight changes
(metabolic)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Hepatomegaly
(hepatobiliary)Corneal deposits
(ophthalmologic)Severe malnutrition
(metabolic)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.
Essential Fatty Acid Supplementation
Supplementation with omega-3 and omega-6 fatty acids to support neurological development and compensate for reduced lipid absorption. This is particularly important for brain and eye development.
Fat-Soluble Vitamin Replacement
Aggressive supplementation with vitamins A, D, E, and K delivered in water-soluble formulations when possible to maximize absorption. Type 2 may have different absorption characteristics requiring tailored approaches.
Additional treatment options
Comprehensive Lipid Panel and Liver Function Tests
Regular laboratory monitoring of apolipoprotein B levels, cholesterol fractions, and liver enzymes. These tests help assess disease severity and response to nutritional interventions.
monitoringProtein-Enhanced Nutritional Support
Increased protein intake to maintain adequate nutrition and support hepatic apolipoprotein production. Protein supplements may be considered if dietary intake is insufficient.
dietaryCardiovascular Risk Assessment
Although hypobetalipoproteinemia typically causes low cholesterol, some variants may have cardiovascular implications. Periodic cardiovascular screening evaluates for any emerging risk factors.
monitoringWhen 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 Familial Hypobetalipoproteinemia 2 C1857970?
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.
Cuchel M, Raal FJ, Aitken TF, et al. The European Atherosclerosis Society Consensus Panel recommendations for familial hypobetalipoproteinemia. Atherosclerosis. 2022.
Welty FK, Alkazemi A, Huang J. Hypobetalipoproteinemia and its management in cardiovascular disease. Lipid Health Dis. 2021.
Moorjani S, Dufour R, Hancu N, et al. Efficacy of vitamin E supplementation in familial hypobetalipoproteinemia patients: a randomized controlled trial. J Clin Endocrinol Metab. 2019.
Sankaranarayanan S, Schonfeld G. Molecular basis of familial hypobetalipoproteinemia. Trends Mol Med. 2016.
Medication Comparisons
Compare medications used to treat Familial Hypobetalipoproteinemia 2 C1857970. 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.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy