Abetalipoproteinemia

Overview

Abetalipoproteinemia is quite a big name and you almost bit your tongue when you tried pronouncing it.

It even has other more tongue-biting names – Bassen-Kornzweig syndrome, acanthocytosis, or apolipoprotein B deficiency.

Alright, so what does the term Abetalipoproteinemia (ABL) entail?

It is an abnormal health state that makes one’s body to be unable to completely absorb certain fatty diets. It is a genetic disease caused by a bad gene. That means it will be inherited from an affected parent. If left unattended, it can cause vitamin deficiency.

The inability to absorb certain dietary fats will indirectly mean some vitamins will be lacking in the human body. There will virtually be hindered the growth of tissues and organs especially the brain, eyes, blood, and the gastrointestinal system.

Let us take a look at some of its associated symptoms although variations exist.

Abetalipoproteinemia

Photo Credit: Genetics Home Reference – NIH

Symptoms of abetalipoproteinemia

  1. Slurring of speech
  2. Developmental milestone failures and sometimes delays to thrive in infants
  3. Abnormal spine curvature.
  4. Dexterity and balance abnormalities.
  5. Poor coordination in body movement.
  6. The weakness of the muscles.
  7. Bulging abdomen.
  8. Vision problems.
  9. Disorders of speech.
  10. Stool abnormalities i.e. stools becoming foul-smelling, irregular, fatty, or frothy.

What causes abetalipoproteinemia?

It is a rare autosomal recessive disease inherited from two parents that are carriers. It means the two parents must carry the defective gene in them for a child to be affected. Only 100 cases have been reported worldwide.

The gene affected is that which is responsible for the production of lipoprotein. The name of the gene is the MTP gene.

ABL is the endpoint of disorders with a gene that instructs your body how to combine a fat with protein to produce a lipoprotein. When the gene fails to function the way it should, it becomes more difficult for your body to metabolize certain types of fat and vitamins.

Abetalipoproteinemia diagnosis

This will require visiting the hospital. And sometimes, it can be really difficult to know whether the symptoms are caused by ABL or by an entirely different condition. The following diagnostic tests have been useful in helping affected persons.

  1. Metabolic Blood Tests: Its aim is to detect changes in metabolism.
  2. Vitamins A, D, E and K deficiency test
  3. Apolipoprotein B test
  4. Complete blood count
  5. Cholesterol study
  6. Genetic blood tests
  7. Eye examination
  8. Stool sample test
  9. Electromyography

Treatments for abetalipoproteinemia

  1. Vitamin therapy: a common way to treat ABL is the administration of a high dosage of vitamins A, D, E, and K. They are lipid-soluble vitamins.
  2. Supplements support: In addition to treatment with vitamins A, D, E, and K, supplements can also be added. A good example is an omega-6 fatty acid called linoleic acid.
  3. Diet: This is a vital part of ABL treatment.  Taking more skimmed milk, eating smaller dietary fat, low consumption of meat, etc. are some of the ways to go about managing the condition.

Complications

Several complications of the eyes, muscles and the brain exist.

For instance, visual problems can worsen to a point where it develops into blindness.

Tremors and irregular movement patterns have also been indicated as the disease progresses.

Certain people have also been reported to experience deterioration in their mental functions. Notwithstanding, their treatments exist and general health can be improved.

Prognosis for abetalipoproteinemia

The degree of the condition determines its associated complications. Reports have it that many people do well with treatment. Notwithstanding, the nervous system and muscle abnormalities have been documented.