Short answer · Medically reviewed summary · Last updated: 2026-05-08
The medical classification for Abetalipoproteinemia is identified by ICD-10 code E78.6 (congenital deficiency of lipoproteins) and ICD-9 code 273.8 (other disorders of lipoprotein metabolism). These diagnostic codes are essential for healthcare providers and insurance billing to accurately document this rare genetic condition characterized by the body's inability to fully absorb dietary fats and fat-soluble vitamins. What is the clinical significance of Abetalipoproteinemia? Abetalipoproteinemia, also known as Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that prevents the production of apolipoprotein B.
ICD10 code of Abetalipoproteinemia and ICD9 code
ICD-10 and ICD-9 codes for Abetalipoproteinemia, with classification details for clinicians, coders and patients.
The medical classification for Abetalipoproteinemia is identified by ICD-10 code E78.6 (congenital deficiency of lipoproteins) and ICD-9 code 273.8 (other disorders of lipoprotein metabolism). These diagnostic codes are essential for healthcare providers and insurance billing to accurately document this rare genetic condition characterized by the body's inability to fully absorb dietary fats and fat-soluble vitamins.
What is the clinical significance of Abetalipoproteinemia?
Abetalipoproteinemia, also known as Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that prevents the production of apolipoprotein B. Without this protein, the body cannot assemble chylomicrons, VLDL, or LDL, leading to a profound deficiency of fat-soluble vitamins (A, D, E, and K). Because Abetalipoproteinemia impacts lipid metabolism, patients often present in infancy with failure to thrive, steatorrhea (fatty stools), and developmental delays.
How is Abetalipoproteinemia diagnosed and managed?
Diagnosis of Abetalipoproteinemia typically involves blood tests revealing extremely low or absent levels of serum cholesterol and triglycerides, alongside the presence of acanthocytes (star-shaped red blood cells) on a peripheral blood smear. Management is lifelong and focuses on aggressive nutritional intervention. Key management strategies for Abetalipoproteinemia include:
- High-dose supplementation of Vitamin E to prevent neurological and retinal degeneration.
- Supplementation of Vitamins A, D, and K to address malabsorption.
- A strictly restricted long-chain fat diet to reduce gastrointestinal distress.
- Regular monitoring of neurological function and vision by specialists.
Is Abetalipoproteinemia hereditary?
Yes, Abetalipoproteinemia is an inherited condition caused by mutations in the MTTP gene. It follows an autosomal recessive inheritance pattern, meaning an individual must inherit two copies of the mutated gene—one from each parent—to manifest the disease. Genetic counseling is highly recommended for families affected by Abetalipoproteinemia to understand recurrence risks.
Next steps
- Consult with a metabolic specialist or a gastroenterologist familiar with lipid disorders.
- Connect with the 19 community members at DiseaseMaps.org who are navigating life with Abetalipoproteinemia.
- Request a referral to a clinical geneticist for formal carrier testing and family planning guidance.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment; always consult with your healthcare provider regarding your specific medical condition.
References
- Orphanet: Abetalipoproteinemia (ORPHA:119)
- NIH GARD: Abetalipoproteinemia Information Page
- OMIM: Abetalipoproteinemia (Entry #200100)
- National Organization for Rare Disorders (NORD): Abetalipoproteinemia Database
