What is the Best Treatment for Anderson-Fabry Disease?
There are many genetic conditions that may cause alterations or impairment in apo B synthesis in addition to secretory and metabolic abnormalities. This in turn causes intestinal fat malabsorption leading to growth retardation and neuroophthalmological complications. A condition in which hypocholesterolemia runs in families named abetalipoproteinemia, chylomicron retention disease, hypobetalipoproteinemia, or Anderson-Fabry disease are just some of the genetic conditions that cause malnutrition, growth failure, failure to thrive, and vitamin E deficiency. The diagnosis more often gets delayed due to the symptoms being nonspecific.
What is The Best Treatment for Anderson-Fabry Disease?
There is no specific therapy or medication to manage this condition. Management is totally aimed at preventing any serious complications. Diarrhea, vomiting, and abdominal distension can dealt with by following a low-fat diet. In children less than 5 years of age milk preparations with medium-chain triglycerides tends to improve bouts of diarrhea and also addresses malnutrition within a few days but tolerance may be an issue here. In children above the age of 5, low quantities of long-chain fatty acids is good enough to observe improvement in 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.
Controlling vitamin E deficiency also has a significant role to play in prevention of neurological complications. Management includes supplements like vitamin E and A which are soluble in fats. 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 individuals above 18 years of age is suggested as early detection of any cardiac abnormalities can drive patients towards restarting vitamin therapy in case if they have discontinued 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
- 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
- Liposoluble Vitamins PO (Per os)
- 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.
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