Therapy with docosahexaenoic acid and arachidonic acid in patients with profound deficiency of polyunsaturated fatty acids due to abetalipoproteinemia is very effective:

8 Patients with abetalipoproteinemia are known to suffer from a severe decrease in levels of polyunsaturated fatty acids (PUFA), as well as a severe vitamin E deficiency. These findings in plasma, erythrocytes and other tissues, are related to clinical symptoms of neurological and visual impairment and hemolysis. Recently a normalisation of decreased plasma and erythrocyte docosahexaenoic acid (DHA, 22:6 w-3) level and improvement of symptoms by oral supplementation of DHA was described in patients with peroxisomal disorders. We treated three patients with abetalipoproteinemia first with a diet containing a mixture of longchain PUFA and mediumchain triglycerides and with very large doses of vitamin E, but DHA and arachidonic acid (AA) plasma and erythrocyte levels remained profoundly deficient. The patients were female children, presenting with steatorrhea and failure to thrive at ages of 1 to 10 months. Diagnosis was made by serum biochemical markers: Apolipoprotein B < 0,1 g/l, Triglycerides < 0,4 mmol/l and cholesterol < 1,3 mmol/l, vitamin E level 0,2-1,7 umol/l. All their parents had normal Apolipoprotein B levels. We supplemented the diet additionally with a mixture of DHA and AA, doses respectively 100 and 20 mg/kg/day and monitored the biochemical and clinical parameters of these patients carefully. A striking improvement of the PUFA pattern was obtained with elevation of DHA levels in plasma and erythrocytes in the normal range. In one patient the vitamin E level increased also to the normal range. (Table)Table : Plasma and erythrocyte levels of DHA before (B) and after (A) oral supplementation for three months:Growth and ophthalmologic and neurologic investigation showed normal development for age. The beneficial effect of addition of DHA and AA to the diet in patients with abetalipoproteinemia can be of great importance to improve their prognosis with regard to neurological and visual malfunction and psychomotoric development.