Reviewed By: Pramod Kerkar, MD, FFARCSI

Many genetic diseases are responsible for alterations in apo B synthesis, metabolism or secretion abnormalities, causing intestinal fat malabsorption with growth retardation and neuro-ophtalmological complications. Familial hypocholesterolemia, namely abetalipoproteinemia, hypobetalipoproteinemia and chylomicron retention disease or Anderson-fabry disease, are some of the rare genetic diseases that cause malnutrition, failure to thrive, growth failure and vitamin E deficiency, as well as other complications. The diagnosis is often delayed because symptoms are nonspecific.

What is The Best Treatment for Anderson-Fabry Disease?

There is no specific drug or therapy for this condition. Disease management is completely focused on preventing potential complications. Vomiting, diarrhea and abdominal distension can be improved by low-fat diet. In very young children, milk preparations with medium-chain TG may improve diarrhea and correct malnutrition within a few days, but tolerance can be a problem. In older children, a regimen low in long-chain fatty acids is usually sufficient to decrease symptoms. Dietary counseling is needed not only to monitor fat intake and improve symptoms, but also to maintain sufficient caloric and essential fatty acids intake. The fat diet must rich in polyunsaturated fatty acids.

Essential fatty acid deficiency is especially severe early in life. Treatment of fatty acid deficiency consists of dietary essential fatty acid, reversing the deficiency. One to three teaspoons per day of soybean oil to meals and fish consumption to two to three times per week can reverse the fatty acid deficiency.

Growth is a pediatric-specific goal in patients with malabsorption syndromes. With early diagnosis and treatment, catch-up growth can be expected. Tracking the growth curve is essential in the follow-up of chylomicron retention disease children. The annual evaluation is suitable.

Control of vitamin E deficiency plays a significant role in preventing neurological complications. Treatment includes fat-soluble vitamin supplements such as vitamin E and A. Vitamin A, in combination with vitamin E, may help to prevent ophthalmologic complications. These vitamins are very important to prevent, slow or improve this kind of complications of chylomicron retention disease. Echocardiography in adulthood (> 18 years) is suggested because early detection of cardiac impairment may motivate patients who have discontinued their vitamin therapy to restart it.

High dosages of vitamin E (100 IU/kg/d) have been reported to prevent, slow or improve neurological complications. Alpha-tocopherol either in aqueous or lipid forms is the most effective form of vitamin E to prevent neurological complications.

Early vitamin D treatment (800 to 1200 IU/day) makes it possible to prevent osteopenia condition. These high intakes of vitamins are generally safe. Vitamin K was can be administered at a dosage of 15 mg/week. This is the best therapy for preventing hemorrhages.

Summarization of Anderson-Fabry Disease

Recommended Diet

  • A low-fat diet rich in essential fatty acids and medium-chain triglycerides
  • Liposoluble Vitamins PO (Per os)
  • Vitamin E (hydrosoluble form): 50 IU/kg/d
  • Vitamin A: 15,000 IU/d
  • Vitamin D: 800-1200 IU/kg/d for < 5 y old and 600,000 IU/2 month if > 5 y old
  • Vitamin K: 15 mg/week

One Perfusion (passage of fluid through the circulatory system or lymphatic system) /month

  • Fatty acids: intralipid 20% 2 g/kg/month
  • Vitamin E: 4 to 6 mg/kg/month
  • Vitamin A: 500 IU/kg/month


Infants with severe signs and symptoms have a poorer prognosis. Those who get diagnosed at early stages with milder symptoms may have a better prognosis. In adults, this condition requires long-term treatment, which is poorly acknowledged in scientific publication.

Also Read:

Pramod Kerkar

Written, Edited or Reviewed By:


Pain Assist Inc.

Last Modified On: July 25, 2018

This article does not provide medical advice. See disclaimer

Sign Up for Our Newsletter

We'll help you live each day to the healthiest