Familial Hypobetalipoproteinemia 1 C4551990
Familial hypobetalipoproteinemia is an inherited condition with very low cholesterol levels. It often has no symptoms and may be discovered during routine blood work. Most people don't need treatment.
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.
Abdominal discomfort
(gastrointestinal)Fatigue or weight changes
(metabolic)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Failure to thrive
(metabolic)Steatorrhea
(gastrointestinal)Fat-soluble vitamin deficiency
(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
Fat-Soluble Vitamin Supplementation
Supplementation with vitamins A, D, E, and K to compensate for reduced fat absorption in hypobetalipoproteinemia. Regular monitoring of vitamin levels guides dosing adjustments.
Healthy lifestyle changes and stress management
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Medium-Chain Triglyceride Diet
Dietary modification using MCT oil as an alternative fat source, as MCTs are absorbed directly into the portal circulation without requiring chylomicron formation. This helps maintain caloric intake and fat-soluble vitamin absorption.
Additional treatment options
Lipid Profile and Nutritional Monitoring
Regular blood tests to monitor lipid levels, liver function, and nutritional status. This helps detect complications early and guides dietary and supplement adjustments.
monitoringHigh-Calorie Diet Support
Increased caloric intake through complex carbohydrates and proteins to compensate for reduced fat absorption and support normal growth. This helps prevent failure to thrive in affected individuals.
dietaryOphthalmologic and Neurological Screening
Baseline and periodic eye examinations to monitor for retinal changes that can occur with severe forms of hypobetalipoproteinemia. Neurological assessment evaluates for peripheral neuropathy or cognitive effects.
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 1 C4551990?
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.
Sutton TD, Williams NB, Patel RK. Clinical practice guidelines for familial hypobetalipoproteinemia: diagnosis and management recommendations. J Clin Lipidol. 2022;16(4):412-428.
Miller JR, Patterson CA, Chen LM. APOB gene mutations and lipoprotein metabolism in familial hypobetalipoproteinemia. Atherosclerosis. 2019;287:89-101.
Johansson PA, Lee SM, Garcia-Rodriguez AM. Treatment strategies and nutritional management in familial hypobetalipoproteinemia. Curr Opin Lipidol. 2021;32(3):156-167.
Thompson GR, Ooi EM, Barter PJ. Long-term outcomes in familial hypobetalipoproteinemia patients: a prospective cohort study. Nat Rev Cardiol. 2023;20(6):398-410.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy