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What is Abetalipoproteinemia?

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.

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What are the common symptoms of Abetalipoproteinemia?
  • 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.
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How to diagnose Abetalipoproteinemia?

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.

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What is the treatment procedure for the Abetalipoproteinemia?

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.

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Who is eligible for the treatment of Abetalipoproteinem?

The symptoms of abetalipoproteinemia can be easily confused with some other disease. Therefore a series of medical examinations are required to confirm the symptoms of abetalipoproteinemia. Metabolic blood test, genetic test, stool sample test, eye exam and neurological examination are taken and if the symptoms are confirmed, then one is eligible to undergo the specific treatment depending upon the severity of the symptoms.

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Who is not eligible for the treatment?

Some of the symptoms resemble of lipid profile disorders, if it is so then one may not be able to undergo the specific treatment of abetalipoproteinemia. There are no other treatment restrictions if the symptoms are once confirmed.

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What are the side effects of Abetalipoproteinem treatment?

As the treatment consists of deficiency supplements and dietary plan, there are no such complications associated with the treatment. If the conditions or symptoms are not treated properly it can lead to vitamin deficiency and liver failure which can lead to liver steatosis. Early diagnosis and treatment can regain mental vision and life balance.

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What are the post-treatment guidelines?

Some of the post-treatment guidelines are as follows:

  • Constant follow up is necessary as the doctor may need to check your metabolism levels.
  • Regular eye checks up and blood test may be required during and after the course of treatment.
  • The medication and the diet chart must be followed correctly to regain the lost health.
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How long does it take to recover?

It depends on the severity of your illness. Though most of the people recover with ABL treatment, some tend to have problems associated with the nervous system and muscles.

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Are the results of the treatment permanent?

Even though you cannot fully recover from the disease, early diagnosis and treatment can help you to achieve good mental clarity, mental vision and life balance. You can prevent the symptoms from worsening and organ failures.

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What are the alternatives to Abetalipoproteinem treatment?
  • 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.
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Key Highlights

Safety: Medium

Effectiveness: Low

Timeliness: High

Relative risk: Medium

Side Effects: Medium

Time for Recovery: Medium

Price Range: From Tk. 500 to Tk. 1500 per session

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