Abetalipoproteinemia | Bassen- Kornzweig syndrome | Acanthocytosis

 

Abetalipoproteinemia is generally described as an inherited health problem which resists absorbing levels to the body from absorbing dietary fats. If you do not treat this health condition properly, it can trigger vitamin deficiencies to you and also it causes long-term effects on your health. Usually, these vitamins and dietary fats play a vital role in the growth and development of organs,tissues which includes the brain. Some common other names of Abetalipoproteinemia are Bassen- Kornzweig syndrome, acanthocytosis, apolipoprotein B deficiency. This health condition is not contagious which can be caused due to some gene defectives and it generally runs among families.

It will come under the rare congenital disorders. Only 100 cases throughout the world population are reported with Abetalipoproteinemia health condition. The higher chance of occuring Abetalipoproteinemia health condition is equal for both males and females. There are no ethnic, racial and geographical preferences causing these health conditions. Generally, symptoms of this disorder will vary from one person to another. Usually, these symptoms are associated with the growth development of infants, coordination issues and slurred speech issues among all adults. Mostly eyes, nervous system, gastrointestinal tract, and blood get affected due to Abetalipoproteinemia.

Symptoms of Abetalipoproteinemia

• balance and dexterity problems

• Delay in growth development among infants, this will lead to abnormal growth patterns

• Spine have abnormal curvature

• Muscle weakness

• Eye Vision problems

• Issues like Speech slurring

• Coordination problems

• Speech disorders

• The irregular stool which might be fatty, frothy and has foul smelling

• Sensory problems

• tremors, speech difficulties, trouble in reaching things are Movement disorders

• Sensory disturbances like sensing the touching things and sensing the temperature

Diagnosis of Abetalipoproteinemia

Generally, diagnosis of Abetalipoproteinemia involves performing various tests.

Metabolic Blood Tests:

Changes in metabolism are usually diagnosed and performed with various tests to check for presence of vitamin A, D, E, K. In some cases, apolipoprotein B levels are also treated.  Usually, these levels vary among people who are affected by Abetalipoproteinemia and lip disorders. For further analysis, complete blood count and cholesterol levels are under studied.

Genetic Blood Tests:

If you have Abetalipoproteinemia past history in your family, your provider suggests you to test your MTP gene mutations. This gene mutation is one of the reasons for Abetalipoproteinemia. This test will be helpful in identifying whether you are affected with Abetalipoproteinemia and also you have to decide whether your partner must undergo testing before having children.

Other tests:

Diagnosing Abetalipoproteinemia will need more than one visit to the provider. Usually it takes some time to conclude the symptoms because of ABL or other health problems. Some additional tests are required to examine how a body is affected by Abetalipoproteinemia. Tests are stool sample tests, electromyography, and eye exams. The clinical examination includes neurological examination, red blood cell examination which helps to identify the presence of thorny spikes on the surface which contribute to abnormal shape called acanthocytosis. Some liver tests to check for abnormalities, intestinal biopsy with the use of upper GI endoscopy which helps to identify the presence of increased fat in epithelial cells. The fatty deposition levels are checked using a liver biopsy.

Treatment procedure for Abetalipoproteinemia

Some treatment procedure are:

Proper diet plan

For Abetalipoproteinemia patients, there is a special diet plan for them. The requirements are analysed and the diet chart will be prepared to eliminate specific fats like long-chain triglycerides which includes medium-chain triglycerides. Usually, this diet chart includes  vitamins such as A, E, K and also some iron supplements in it. For child’s dietary needs can be analysed by a nutritionist who has experience in treating genetic disorders.

Medications

The medications are usually based on apparent symptoms which are experienced by each individual. Treatment requires more than one consultation with a specialist. Specialist team includes Neurologists, hepatologists, ophthalmologists, lipidologists , nutritionists, gastroenterologists. They sit together and plan a systematic treatment. The ALB patients must be under monitor for every 6-12 months. Neurological and ophthalmological deterioration levels are measured regularly by using eye and neurological examinations. And liver damage can be monitored by amino transaminases and albumin levels. Hepatic ultrasound helps to detect the presence of fatty liver. Echocardiography helps to regularly monitor your heart functionalities.

Gene therapy

Research shows that gene therapy has been very effective in curing abetalipoproteinemia health problems. In this therapy, a normal gene is introduced into your body to produce an active protein which helps to resist further development of the disease. In most of the cases with ALB, gene therapy is considered as an alternative approach.

Alternatives to Abetalipoproteinem treatment

• There are no alternatives for these health issues other than medication and dietary plans.

• Hence this is a genetic health condition so there are no precautions or guidelines to prevent the same.

• And genetic testing for parents will help you understand the risk during pregnancy.

• Studies and research is going on to understand the genetic condition and helps to prevent the acquired genetic disorder.

Frequently Asked Questions

Q1. What is the cause of abetalipoproteinemia?

Ans: Abetalipoproteinemia is caused by mutations in the MTTP gene, which provides instructions for making a protein called microsomal triglyceride transfer protein. 

Q2.What are the clinical features of abetalipoproteinemia?

Ans: Abetalipoproteinemia typically presents in infancy with failure to thrive, diarrhea, vomiting, and malabsorption of fat.

Q3. Is abetalipoproteinemia life threatening?

Ans: If left untreated, the disease can be debilitating and even lethal by the third decade of life due to the development of severe complications.

Q4. What are the eye findings of abetalipoproteinemia?

Ans: Night blindness develops, with retinal degeneration and later onset of pigmentary changes secondary to vitamin A deficiency.

Q5. What cholesterol level is abetalipoproteinemia?

Ans: Abetalipoproteinemia is associated with low serum cholesterol (< 50 mg/dL) and triglycerides (∼2 to 45 mg/dL).