Abetalipoproteinemia

Roshni Sonawane
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Summmary Of Management Regime
1) Special diet:
a) Low fat diet:
i) Start with 5 grams/day,
ii) Grade up fat in diet as tolerated up to 20 grams/day
b) EFA supplementation: vegetable oils

2) High dose vitamin therapy:
i) Vitamin E:
Dose: 100-300 mg/kg/day
Route: oral (intramuscular also available)
ii) Vitamin A:
Dose: 100–400 IU/kg/day
Route: oral
iii) Vitamin K:
Dose: 5-35 mg per week
Route: either oral or parenteral
iv) Vitamin D:
Dose: 800–1200 IU/day
Route: oral

Screening and monitoring the multisystem involvement with regular clinical and laboratory assessment is vital. It also assists in reviewing the patient compliance with the management regime. Adherence to treatment can significantly reduce disease morbidity. Support from allied health mainly dietician and psychological is desirable. Family education and participation should be encouraged.

6-12 monthly dietary and clinical evaluation:
Main focus should be:
- gastrointestinal symptoms
- diet review
- growth,
- neurological and
- ophthalmic signs.

Annual laboratory investigations:
- monitoring for vitamins A(beta-carotene), vitamin D (D25-OH vitamin D),vitamin E (vitamin E/serum cholesterol ratio) and vitamin K (INR)
- Other nutritional bloods
- Serum transaminases
Additional evaluation during adolescence:
Abdominal ultrasound (for hepatic steatosis) and echocardiogram.

Teratogenecity: Close surveillance is required in periconceptional females due to the risk of teratogenicity.

A low-fat diet and high dose supplementation of fat-soluble vitamins, especially vitamins E and A are the principle aspects of management. The treatment is lifelong. Commencing the treatment as soon as after diagnosis can minimize the severe complications of the disease. Supplementing the diet with essential fatty acids (EFA) in the form of vegetable oils containing polyunsaturated fatty acids is also recommended. It is suggested to avoid MCT supplementation given the risk of hepatic fibrosis with prolonged use.


References
Abetalipoproteinemia Abetalipoproteinemia 03/14/2016
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