Acanthocytosis - digestive disorder

Acanthocytosis is rare disorder in which patient is unable to fully absorb dietary fats. Acanthocytosis is a digestive disorder that is characterized by the absence of very low-density lip proteins and chylomicrons in the plasma. The absence of lipproteins and of chylomicrons interferes with the absorption of fat and leads to excessive fats excretion (steatorrhea). The most frequent and most significant conditions include abetalipoproteinemia and spur cell hemolytic anemia of severe liver disease. It affects boys slightly more than girls.


The most important symptoms are abnormal red blood cells (acanthocytes), a vision disorder (retinitis pigmentosa), and impaired muscle coordination (ataxia), development delays and digestive problems. Jaundice, bleeding pale,foul smelling and bulky stool, loss of appetite, vomiting, retarded growth, vision problems, abdominal pain, dark urine, cataracts, bulging eyes, decreased night vision, short stature, reduced touch sensation, reduced pain and temperature sensation, enlarged liver and spleen ,mental retardation, cold intolerance etc are other symptoms of acanthocytosis.


Altered distribution or proportions of membrane lipids or membrane protein or membrane skeleton abnormalities are causes of acanthocytosis. The imbalance in membrane lipids causes cells to stiffen, wrinkle, pucker,and form spicules .The liver dysfunction can cause altered plasma lipid composition and acanthocytes because of acquired abnormal red cell membrane lipid composition. Changes in the microsomal triglyceride transfer protein (MTP) gene cause a congenital absence of beta-apolipoprotein in the plasma, as well as decreased levels of cholesterol, very–low-density lipoprotein (VLDL), and low-density lipoprotein (LDL).


Treatment includes high doses of fat-soluble vitamins, such as Vitamin A, D, E and K is necessary in large doses. Iron and foliate supplements are needed. Occupational and Physical therapy is recommended to treat progressive neurological disease. Treatment for liver disease is important, it includes careful fluid management, correction of metabolic disturbances, treatment of hypoglycemia, and careful nutritional management. Bleeding may require surgery. Hormone replacement is needed for endocrine disorders; lipid-lowering agents have been tried for hemolytic anemias of severe liver disease. Drugs prescribed by doctors are: Vitamin A (Aquasol A, Palmitate-A 5000) Vitamin E (Nutr-E-Sol), Folic acid, Polysaccharide-iron complex (Niferex, Nu-Iron)


Maintain healthy weight and normal cholesterol and blood sugar levels. Avoid excess alcohol and other substances that could be harmful to your liver, can help to reduce liver disease.

Alternative medicine:

Herbs and nutritional supplements help to improve liver health. This may include milk thistle, alpha-lipoic acid, vitamin E, N-acetyl and omega-3 fatty acids, vitamin A, iron, valerian and comfrey. Consult the doctor before taking any vitamin and dietary supplement.


1 comment:

Kim Simon said...

This blog is a great source of information for me. Thank you.


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