Abetalipoproteinemia: Definition, Causes, Symptoms, Treatment

KakaKiky - Abetalipoproteinemia is a rare inherited disorder that affects the body's ability to absorb and transport dietary fats and fat-soluble vitamins. It is a complex condition that can have significant impacts on a person's health and quality of life. In this blog post, we will delve into the definition, causes, symptoms, and treatment options for abetalipoproteinemia.

Definition of Abetalipoproteinemia

Abetalipoproteinemia, also known as Bassen-Kornzweig syndrome, is a genetic disorder characterized by the absence or severe deficiency of a protein called apolipoprotein B. This protein is essential for the formation of lipoproteins, which are responsible for transporting fats, cholesterol, and fat-soluble vitamins throughout the body.

Causes of Abetalipoproteinemia

Abetalipoproteinemia is caused by mutations in the MTTP gene. This gene is responsible for the production of beta-lipoproteins, which are substances that carry fats from food for absorption in the intestines and processing in the liver.

Mutations in the MTTP gene lead to a reduction or absence of beta-lipoprotein formation. The lack of beta-lipoproteins results in the body's difficulty in absorbing fats and fat-soluble vitamins, leading to malnutrition in individuals with abetalipoproteinemia.

Risk Factors for Abetalipoproteinemia

Abetalipoproteinemia is a genetic disorder that can be inherited from parents. It follows an autosomal recessive pattern, which means the risk for a child to develop the disease is approximately 25% if both parents carry mutations in the MTTP gene.

Children of parents who have mutations in the MTTP gene also have a 50% chance of not having abetalipoproteinemia but being carriers of the gene.

Symptoms of Abetalipoproteinemia

Abetalipoproteinemia can cause symptoms in various parts of the body, ranging from the digestive system, nervous system, to the eyes. Some of the symptoms include:

1. Fatty, pale, frothy, and foul-smelling stools
2. Nausea and vomiting
3. Abdominal distension
4. Impaired balance and coordination
5. Kyphosis (abnormal curvature of the spine)
6. Delayed growth and development
7. Progressive visual impairment due to retinal degeneration
8. Ataxia (lack of muscle control)
9. Speech difficulties
10. Tremors and tics
11. Muscle weakness
12. Numbness and tingling sensations
13. Rapid and repetitive eye movements (nystagmus)
14. Paleness, frequent fatigue, dizziness, and fainting

Treatment of Abetalipoproteinemia

The treatment of abetalipoproteinemia aims to alleviate symptoms and prevent complications. Some treatment methods that doctors may implement include:

1. Low-saturated-fat diet

In most cases, doctors will recommend strict reduction of saturated fat intake. This dietary approach aims to alleviate gastrointestinal disturbances such as diarrhea and vomiting.

For infants, doctors may prescribe special formula milk and coconut oil containing medium-chain fatty acids. These fats do not require lipoprotein for digestion and can be directly absorbed by the body. However, the consumption of these fats needs to be closely monitored, as excessive intake can lead to fatty liver.

In addition to the aforementioned fats, doctors may also prescribe omega-6 supplements.

2. Supplementation of vitamins A, D, E, and K

Supplementation of vitamins A, D, E, and K is aimed at alleviating symptoms and preventing complications. Vitamin E and A supplements can help address nerve and eye impairments.

Meanwhile, vitamin K supplementation can improve blood clotting, and vitamin D supplementation is given to support bone growth and muscle function.

Changes in dietary patterns and vitamin supplementation need to be implemented throughout the patient's life.

3. Therapy

For patients experiencing neurological impairments, doctors may recommend physiotherapy, speech therapy, or occupational therapy.

It is important to note that treatment should be initiated as early as possible to avoid complications. Patients will also be advised to have regular check-ups with ophthalmologists, internists, and neurologists. Typically, doctors will recommend check-ups every six months.

Prevention of Abetalipoproteinemia

Abetalipoproteinemia is a genetic disorder that is difficult to prevent. However, the risk of developing abetalipoproteinemia can be reduced by seeking genetic counseling and undergoing genetic screening before planning a pregnancy.

It is important to consult with healthcare professionals and genetic counselors to assess the risk and discuss potential options for family planning. Genetic screening can help identify the presence of the MTTP gene mutation associated with abetalipoproteinemia. This information can guide individuals and couples in making informed decisions about their reproductive choices.

By understanding the genetic risks and seeking appropriate medical advice, individuals and families can take proactive steps to manage the condition or make informed decisions about their reproductive options.