Abetalipoproteinemia is also known as Bassen Kornzweig Syndrome. It is an autosomal recessive trait and is a rare disorder. In this disease the absorption of dietary fat, vitamins and cholesterol absorption is affected and the most of the symptoms are due to the deficiency of vitamins. The patients are not able to make the beta lipoproteins in the body which are responsible for the absorption of the dietary vitamins, cholesterol and other dietary fats and transferring them to the blood stream.

 

Abetalipoproteinemia is also known as Bassen Kornzweig Syndrome. It is an autosomal recessive trait and is a rare disorder. In this disease the absorption of dietary fat, vitamins and cholesterol absorption is affected and the most of the symptoms are due to the deficiency of vitamins. The patients are not able to make the beta lipoproteins in the body which are responsible for the absorption of the dietary vitamins, cholesterol and other dietary fats and transferring them to the blood stream. This hampers the normal growth as a normal level of dietary fats and vitamins are necessary for the optimal growth of the body. Only the absorption of fats and fat soluble vitamins like vitamin A, D, E, and K is affected as these need lipoproteins to transfer them in the body and they cannot be transferred as such in the water base of blood as they will not get dissolved in the blood.

Signs and Symptoms

• Inability to thrive well
• Difficulty in gaining weight and coping up with the desired growth
• Frequent episodes of diarrhea due to unabsorption of fat at the terminal ileum
• Stools are pale in color as they contain excessive fat
• Stools are with foul smell
• Stools may contain large piles of fat and sometimes blood may be mixed up with the stools
• Developmental dyslexia may be present in some cases
• Poor coordination of the body muscles
• Difficulty in balancing
• Slurred speech
• Scoliosis
• Degeneration of the retina leading to a condition called retinitis pigmentosa, also near vision may be affected

Causes

The disease is explained on the genetic basis and is associated with the mutations in MTTP Gene (Microsomal triglyceride transfer protein). This gene codes for the production of Microsomal triglyceride transfer protein which is essential in building beta lipoproteins. Thus indirectly this mutated gene affects the absorption of the essential vitamins and the other dietary fats. This mutated gene produces abnormally short lipoprotein which cannot efficiently carry the fats in the food. This gene is inherited in autosomal recessive pattern so both the alleles should be mutated to produce the disease in an individual.

Diagnosis and Investigations

• Stool examination will detect Steatorrhea
• Low plasma Chylomicron levels
• Absence of apolipoprotien B in plasma
• Intestinal biopsy will show fat filled vacuoles in the enterocytes
• Due to deficiency of vitamins RBC’s will become star shaped a condition called as Acanthocytosis
• Fatty liver may result due to the condition

Treatment and Drugs

Generally an enormous amount of vitamin E is prescribed to the patients along with the strict dietary schedule and vigorous dieting which generally involves dietary restrictions of triglycerides. Sometimes Vitamin A is also prescribed along with. These vitamins are believed to restore the lipoprotein mass in the body.