DISEASE SCANNER
Global Incurable Diseases Tracker
Abetalipoproteinemia
A rare autosomal recessive disorder causing inability to synthesize apolipoprotein B, resulting in fat malabsorption, fat-soluble vitamin deficiency, and neurological complications. Presents with acanthocytosis and severe deficiency of fat-soluble vitamins.
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15
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Lipid profile showing absent LDL
- 2ApoB measurement
- 3Molecular genetic testing
- 4Peripheral smear for acanthocytes
- 5Ophthalmologic examination
- 6Neurologic assessment
Prognosis
Without treatment, progressive neurological deterioration and vision loss occur by age 30. With early high-dose vitamin E therapy (100-200 IU/kg/day) and fat-soluble vitamin supplementation started in infancy, neurological function can be preserved and many patients maintain independent living into adulthood. Retinitis pigmentosa may still progress despite treatment. Regular monitoring every 6-12 months is essential.
Prevention
- Genetic counseling
- Carrier testing for at-risk populations
- Prenatal diagnosis available
Research Status
High-dose fat-soluble vitamin supplementation, especially vitamin E. Low-fat diet with essential fatty acids. Monitoring for neurological and ophthalmologic complications. Early treatment prevents progression.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.