Abetalipoproteinaemia is a rare genetic disorder caused by impaired transport of intestinal and hepatic lipids that typically presents in the first few months of life with symptoms of faltering growth and steatorrhoea.
Diagnosis is often missed due to vague symptoms more common to diseases such as viral gastroenteritis or child abuse sequelae.
If untreated, the disorder is progressive. Deficiency of fat-soluble vitamins such as A, E, D, and K can lead to clinical symptoms and neurological deterioration.
When treated early with high doses of vitamin E, sequelae such as retinal degeneration or ataxia may be prevented.
Nutritional repletion, including a low-fat diet and ingestion of fat-soluble vitamins, is essential in management.
Abetalipoproteinaemia is a rare, inherited, autosomal-recessive disorder resulting from microsomal triglyceride transfer protein deficiency in the liver and small intestine. Fat transport is disrupted, causing symptoms of fat malabsorption (i.e., steatorrhoea, diarrhoea, abdominal distension) and eventual wasting, which often present by infancy or childhood. Fats, cholesterol, and fat-soluble vitamins such as A, D, E, and K are poorly absorbed, leading to dietary deficiency. If discovered early and treated, nutrition may be improved and sequelae prevented. If untreated, clinical findings of vitamin E deficiency result from degeneration of the spinocerebellar and dorsal columns tracts. Irreversible effects include ataxia, peripheral neuropathy, and retinal degeneration.
History and exam
Other diagnostic factors
- age 0 to 12 years
- low weight
- muscle weakness
- muscle contractions
- loss of deep tendon reflexes
- night blindness
- poor eyesight
- pale skin
- optic disc swelling
- consanguineous parents
1st investigations to order
- fasting lipid panel
- vitamin A, D, E, K blood levels
- blood smear
- apo B and MTTP genetic testing
Investigations to consider
- stool smear
- (aPTT) PTT
- serum iron levels
- liver transaminases
- intestinal biopsy
- direct or indirect ophthalmoscope
- evoked potential electrodiagnostic test
- nerve conduction study
- Coeliac disease
- Crohn's disease
- Ulcerative colitis
- Child growth standards
- Vitamin E: fact sheet for health professionals
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