Abetalipoproteinemia , an inherited condition that resists the body from absorbing dietary fats. If this condition is not treated properly, it can trigger vitamin deficiencies causing long-term effects on health. The vitamins and dietary fats are important for the growth and development of organs, tissues including the brain. Bassen- Kornzweig syndrome, acanthocytosis, apolipoprotein B deficiency are the other common names of Abetalipoproteinemia. This condition is not contagious and is caused due to defective genes and runs among families.

This is one of the rare congenital disorder. Only 100 cases among the world population are reported so far with Abetalipoproteinemia. The probability of Abetalipoproteinemia is equal for both males and females. There are no ethnic, racial and geographical preferences. Symptoms of Abetalipoproteinemia vary from one person to another. The symptoms are associated with the development of infants, coordination issues and slurred speech among adults. Often eyes, nervous system, gastrointestinal tract, and blood get affected because of ABL.

• Problems with balance and dexterity
• Failure to thrive and delay in milestone development among infants. This can cause abnormal growth patterns.
• Spine tend to possess abnormal curvature
• Weakness of muscles
• Vision-related problems
• Speech slurring
• Coordination problems
• Speech disorders
• The irregular stool which may be fatty, frothy and foul smelling
• Sensory problems
• Movement disorders like tremors, speech difficulties, trouble in reaching for things.
• Sensory disturbances like sensing the touch and temperature.

The diagnosis of Abetalipoproteinemia is done using various tests.

1. Metabolic Blood Tests:

   Changes in metabolism are diagnosed and various test to check for vitamin A, D, E, K is done. Sometimes apolipoprotein B levels are also tested. The levels vary among people affected by ABL and lip disorders. Complete blood count and cholesterol levels are also studied for a better analysis.

2. Genetic Blood Tests:

   If you have ABL history in your family, a doctor may ask you to test your MTP gene for mutations. This gene is one of the reasons for ABL. This can be helpful in figuring out whether you have ABL and also to decide whether your partner must undergo testing before having children.

3. Other tests:

   Diagnosing ABL may require more than one visit to the doctor. It takes time to conclude whether symptoms are due to ABL or other problems. Additional tests are advised to examine how a body is being affected by ABL. They are stool sample tests, electromyography, and eye exam. The clinical examination comprises of neurological examination, red blood cell examination which can reveal the presence of thorny spikes on the surface which contribute to abnormal shape leading to acanthocytosis. Liver test to check for abnormalities, intestinal biopsy with upper GI endoscopy which checks for the presence of increased fat in epithelial cells. The fatty deposition is checked using a liver biopsy.

The treatment procedure for the Abetalipoproteinemia is as follows:

• Proper diet plan

  There is a special diet plan for ALB patients. The requirements are analyzed and die chart has been prepared to eliminate certain fats like long-chain triglycerides and including medium-chain triglycerides. The diet chart includes vitamins like A, E, K and iron supplements. A child’s dietary needs can be better analyzed by a nutritionist who is experienced in treating genetic disorders.

• Medications

  The medications are based on apparent symptoms that each individual is experiencing. Treatment requires consultation of more than one specialist. Neurologists, hepatologists, ophthalmologist, lipidologists , nutritionists, gastroenterologist. They sit together and plan systematically about the treatment. The patient must be monitored closely for every 6-12 months. Neurological and ophthalmological deteriorations must be measured regularly using eye and neurological examinations. Liver damage is monitored by amino transaminases and albumin levels. Presence of fatty liver is detected using hepatic ultrasound. Functioning of a heart is monitored regularly using echocardiography.

  Many of the symptoms can be treated using high doses of fat-soluble vitamins A, E, K.Vitamin E, and Vitamin A can be used to treat retinal and neurological complications. Bone growth problems are treated using Vitamin D medications. Fat-soluble vitamins blood levels are measured regularly. Results of blood panels, neurological exams, and ophthalmological exams are used to adjust the doses of medications. Early treatment can help in alleviate ophthalmological and neurological deficiencies. Careful monitoring is required for those who are having taking fat-soluble drugs. Genetic counseling is given to those families whose children have affected abetalipoproteinemia.

   

• Gene therapy

  Studies show that gene therapy has been effective in curing abetalipoproteinemia. A normal gene is introduced into the body to produce an active protein which resists further progress and development of the disease. In most cases, gene therapy is considered as an alternative approach.

• There are no alternatives other than medication and dietary plan.
• Since this is a genetic condition, there are no precautions or guidelines to prevent the same.
• Genetic testing of parents can help you understand the risks during pregnancy.
• Active studies and research is going on to understand more about the genetical condition and prevent the acquired genetic disorder.