Abetalipoproteinemia – Symptoms, Causes, treatment

A rare inherited disease seen most often in families where close relatives have married, It is characterized by the complete absence of beta-lipoproteins, Beta-lipoproteins are a combination of fat and protein responsible for transporting most of the cholesterol in the blood plasma. The disease follows a fairly uniform course. By one year of age, the infant begins to show signs of poor nutrition, failure to grow, a swollen stomach, curved spine, excessive fat in the stools, poor muscle coordination, involuntary rapid movement of the eyeballs, and signs of increasing nervous system degeneration.

The red blood cells are crenated (acanthocytosis): that is they show odd spiky edges because of the deficiency of certain fats—lecithin and linoleic acid. Usually, these patients die relatively young, sometimes from irregular heartbeats. Diagnosis is made on the basis of finding the clinical picture and a very low plasma cholesterol level of less than 100 mg per 100 ml. There is no specific treatment for this condition. Certain fats may be given to providing some fat intake and vitamin A supplements may be used.

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