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November 25, 2007


Acanthocytosis is an inherited (ie genetic) condition more prevalent in males. It causes problems with the digestion and absorption of fat into the blood and can thus result in the following symptoms:

  • Balance and coordination difficulties
  • Curvature of spine
  • Decreased vision that gets worse over time
  • Developmental delay
  • Failure to thrive (grow) in infancy
  • Muscle weakness
  • Poor muscle coordination that usually develops after age 10
  • Protruding abdomen
  • Slurred speech
  • Stool abnormalities, including:
    • Fatty stools that appear pale in color
    • Frothy stools
    • Abnormally foul-smelling stools

 You might recall those problems people were having with htepotato chips made from a fat that people deliberately couldn't digest? They were reporting bloating and quite, quite, foul faeces? This is the same outcome but from a different cause: or rather, the fact that you're not ingesting the fat properly (but for a different reason) is caused by a different thing.

A general description is here:

Acanthocytosis is a digestive disorder that is characterized by the absence of very low density lipoproteins (VLDL) and chylomicrons in the plasma. Chylomicrons are very small fatty droplets that are covered with a beta-lipoprotein and perform an essential function in fat transport in the blood and, thus, in fat metabolism. The absense of VLDL and of chylomicrons interferes with the absorption of fat and leads to excessive fats excretion (steatorrhea). Other symptoms include abnormal red blood cells (acanthocytes), a vision disorder (retinitis pigmentosa), and impaired muscle coordination (ataxia).

The nice thing about this particular genetic disease is that in large part it is treatable by diet.  Large doses of fat soluble vitamins and low amounts of fat in the diet (and possibly replacement of some fat types by others) can keep at bay almost all of the symptoms in all except the most extreme cases.

Large doses of vitamin supplements containing the fat-soluble vitamins (vitamin A, vitamin D, vitamin Evitamin K) are given. Linoleic acid supplements are also recommended. and

To avoid intestinal symptoms, persons with this syndrome should not eat long-chain triglycerides and limit fat intake to 5 - 20 grams per day. The diet should contain no more than 5 daily ounces of lean meat, fish, or poultry. Use skim milk instead of whole milk.

Since a certain amount of fat is needed for normal growth and development in all people, medium chain triglycerides are alternatively used as the major source of fat in the diet. These are absorbed from the gut differently than other fats, and thus avoid the intestinal symptoms. Medium chain triglycerides are taken as a dietary supplement

As ever, the earlier the diagnosis, the earlier treatment can start and thus the better the prognosis.

November 25, 2007 in Medicine | Permalink


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