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When a person has problems of absorbing fat through the digestion process, this may be caused by a condition known as abetalipoproteinemia. Abetalipoproteinemia is an inheritance-related condition in which the body is unable to absorb fats, fat-soluble vitamins, and cholesterol. People who suffer from this condition, their bodies cannot synthesize certain types of lipoproteins. Since lipoproteins are the particles, which carry fats and other fat like substances such as cholesterol throughout the blood, it means that in this case, a person cannot be able to get the fats absorbed and transported throughout the blood stream.

People with abetalipoproteinemia miss lipoproteins that are known as beta-lipoproteins. Therefore, when there is absence of beta-lipoproteins, there is highly severe malabsorption of fats and fat-soluble vitamins such as vitamin A, vitamin D, vitamin E, and vitamin K. A person with abetalipoproteinemia has abnormalities in the shapes of red blood cells. People who suffer from this condition first experience a chronic digestive complication, which progresses to skeletal, muscular, neurological, and visual complications.

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In addition, a patient experiences anaemia and long standing bleeding at times. The body requires sufficient amounts of dietary fats and fat-soluble vitamins, and cholesterol for growth and development as well as sustenance of the tissue of cells especially those of the eye and the nerve cells. Therefore, if a person has absence of these vitamins, cholesterol and fats, then health complications occur related to masculine, skeleton, neurological, and ocular or eye parts.


Causes of abetalipoproteinemia

This condition is caused by mutation of the gene that instructs the synthesis of a protein known as microsomal triglyceride transfer protein (MTTP). This protein is required in the creation of beta-lipoproteins. The beta-lipoproteins are important in not only the absorption but also the transportation of fats or lipids, fat-soluble vitamins and cholesterol in the body. The mutation occurs in the MTTP gene.

Lipids in body bind with proteins to form lipoproteins, which enables them to be easily absorbed into the intestines, transported in blood, and fed to cells and tissues in body. One of the groups of lipoproteins, which is associated with abetalipoproteinemia must join or bind with another protein known as the microsomal triglyceride transfer protein (MTTP) for the absorption of the lipids to take place.

However, when there is an abnormality in the gene, which codes or initiates the formation of MTTP, this leads to abetalipoproteinemia condition. The problem may be caused by a malfunctioned or missing microsomal triglyceride transfer protein (MTTP), which in turn leads to absence or decreased amount of beta-lipoproteins. By and large, MTTP gene is located in chromosome 4. The abetalipoproteinemia condition cannot be acquired because it occurs from gene abnormality. Abetalipoproteinemia is a condition people are born with.

Considering that all genes are present at conception and there is no addition or subtraction of these genes after conception, it means that you can either have the disease at conception or not have it. Each parent of a patient with this condition has an abnormal MTTP gene and another normal and well functioning gene of the MTTP set of genes. The parent may not suffer from the condition because one of the genes functions normally and therefore only acts as a carrier. However, there is a possibility that a child born of two parents who are carriers of the MTTP abnormality are likely to suffer the condition.

It is estimated that there is one in four chances of children suffering the condition if both their parents are carriers of the MTTP abnormal gene. Therefore, the child will have a copy of the MTTP gene. Usually, genes occur in pairs from the parents. One set of genes is a copy from the mother known as maternal copy and the other set is from the father known as paternal copy. A person has a set of 23 chromosomes in total and MTTP is located in chromosome number 4.

Symptoms of abetalipoproteinemia disorder

The first signs that a patient with this condition may experience are problems with the digestive system. A person may suffer from chronic diarrhoea, vomiting, loss of appetitive, and retarded weight gain coupled with reduced growth. This particularly occurs because of fats that are left unabsorbed and the reduced absorption of nutrients in body.

A person with the condition also experiences poor muscle coordination or ataxia. There is reduced sensational feeling to touch. In addition, a person has serious loss of reflexes of the tendon. One may not respond or show sensation or feeling to pain and temperatures. Due to reduced nutrients getting to the muscles and lack of control of the muscles by nerves, there is weakened muscle tissue including the heart muscle, something that can lead to early death.

A patient also experiences a loss of vision during the night or reduced field of vision. In the long run, the muscles that control the eye may paralyse. Skeletal problem such as spinal curvature and clubfeet may also occur. Anaemia occurs due to lack of iron and B vitamin.

Treatment of abetalipoproteinemia

Abetalipoproteinemia is a progressive disease and cannot be cured however; it can be managed through different therapies including dietary changes. Some of the treatments applied in managing this condition are restrictions in diets and use of vitamin supplements. A patient needs to reduce triglyceride in diet if the symptoms necessitate that.

Use of vitamin E supplement doses has shown positive results in lessening or even reversing problems of the muscles, nerves, and eye symptoms. In case of blood clotting, vitamin K may be administered to help prevent bleeding. Moreover, a person may be recommended to use water-soluble vitamin A. To help build muscles and the skeleton, physical therapy is needed. Because of the different complications associated with this condition, different medical specialist like opticians, orthopaedics specialists and digestive disorder specialists may be involved in the treatment of a patient.

In essence, abetalipoproteinemia condition can be managed with different therapies and depending on how fast it progresses. The symptoms will be tackled as they manifest and this may differ from one person to another. It is important to constantly monitor the symptoms and seek medical attention as soon as possible.

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