Definition
Definition
Abetalipoproteinemia is a rare, recessive, hereditary disease characterized by the absence or reduction of apoprotein B, the main constituent of lipoproteins, pre-lipoproteins, and chylomicrons. It is characterized by:
- A hypolipidemia
- Progressive neuromuscular ataxia
- A retinitis pigmentary
- A acanthocytosis
- A steatorrhea.
Symptoms
Symptoms
Symptoms of abetalipoproteinemia include:
- Troubles digestifs from the first months of life causing malnutrition.
- Appearance, in the infant, of a diarrhea chronic (repeating over time), of a fatty nature.
- Meteorism (presence of gas) abdominal.
- Nerve damage which results in a ataxia (incoordination of movements without impairment of muscle strength due to damage to the central nervous system).
- Difficulty standing and walking.
- These disorders appearing before the age of five are aggravated by the deficiency of vitamins E.
- There are also eye abnormalities (inflammation of the retina : retinitis among others) causing a decrease in visual acuity.
Pathophysiology
L'hypobeta-lipoproteinemia is a condition characterized by a rate of betalipoproteins simply lowered. In this case the symptoms are comparable to those of abetalipoproteinemia but generally less complete. This condition is found in certain families, in this case we speak of Andersen's disease. In other patients, it is secondary to poor absorption of nutrients (food) by theintestine.
Medical exam
Labo
Blood samples show:
- An abnormality of red blood cells which are fragile and appear in the form of sea urchins (acanthocytosis congenital).
- An absence of:
- Beta-lipoproteins in the blood.
- The vitamins A and vitamins E which are usually transported by the betalipoproteins.
- The amount of lipids and more specifically of cholesterol as well as that of phospholipids is low.
- Another variety of lipids, the chylomicrons, are absent in the blood.
Cause
Cause
Abetalipoproteinemia is a congenital, hereditary disease characterized by the absence of beta-lipoproteins in the blood, which are ua variety of protein associated with lipids (fatty substance).
The transmission of this disease is recessive. autosomal. In other words, for the child to be affected by this condition, it is necessary for both parents to transmit the genetic anomaly carried by chromosomes non-sexual.
Treatment
Treatment
Treatments for abetalipoproteinemia are:
- Institution and monitoring in hospital services specializing in infant dietetics.
- Low-fat diet enriched with triglycerides (variety of fat) medium chain.
- Significant amounts of vitamins A and E are also administered.
Evolution
Evolution
The evolution of abetalipoproteinemia is reaction.