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Abetalipoproteinemia (Bassen-Kornzweig Syndrome)
Related Subjects: |Refsum's disease |Abetalipoproteinaemia
🧬 Abetalipoproteinemia (Bassen-Kornzweig syndrome) is a rare inherited disorder of fat absorption and metabolism. It is caused by mutations in the microsomal triglyceride transfer protein (MTP), which is essential for the assembly and secretion of apolipoprotein B-containing lipoproteins.
📌 Aetiology
- Autosomal recessive inheritance due to mutations in the MTP gene.
- Deficiency of apoB-containing lipoproteins (chylomicrons, VLDL, LDL).
- Impaired absorption and transport of dietary fats + fat-soluble vitamins (A, D, E, K).
- Vitamin deficiency leads to multisystem complications.
🩺 Clinical Features
- Infancy: chronic diarrhoea, steatorrhoea, and fat malabsorption.
- Neurological: gait ataxia, muscle weakness, peripheral neuropathy, nystagmus.
- Ophthalmic: retinitis pigmentosa → progressive visual impairment.
- Loss of deep tendon reflexes, muscle wasting.
- Cognition: IQ and cognitive development remain normal.
🔬 Investigations
- Blood tests: very low total cholesterol & triglycerides; absent/low LDL + chylomicrons.
- Blood film: acanthocytes (spiky red blood cells).
- Genetic testing: confirms MTP mutations.
💊 Management
- High-dose Vitamin E: slows neurological deterioration.
- Other fat-soluble vitamins: A, D, K supplementation to prevent bone, vision, and clotting complications.
- Dietary measures: low-fat diet + medium-chain triglycerides (MCTs) for better absorption.
📉 Prognosis
- With early treatment, many neurological complications can be reduced.
- However, retinal degeneration (retinitis pigmentosa) often progresses despite therapy.
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