AcanthocytosisAcanthocytosisDescription, Causes and Risk Factors:A rare condition in which the majority of erythrocytes are acanthocytes; a regular feature of abetalipoproteinemia; also sometimes present in severe hepatocellular disease.Acanthocytosis is a digestive illness that is defined by the absence of VLDLs (very low-density lipids) and chylomicrons in the plasma. Chylomicrons are tiny fatty droplets that are covered up with a beta-lipoprotein and execute an important function in fat transport in the bloodstream, and therefore have a part in the metabolic processes of fat. The lack of VLDL and chylomicrons interfere with the function of fat and leads to abnormal fat excretion. This is known as steatorrhea.The explanations of acanthocyte pathology differ depending on the underlying illnesses involved. Acanthocytes can be a result of modified quantities of membrane lipids (lipids on the edges of cells) or by tissue layer protein or membrane skeleton irregularities. In membrane lipid irregularities, previously unharmed red blood cell precursors acquire the acanthocytic characteristics and come from the plasma.Modified membranes may contain diminished phosphatidylcholine levels, but with elevated levels of cholesterol. The abnormality in membrane lipids makes cells really stiff and crinkly. In membranous protein or membrane skeleton irregularities, the defect is internal. This creates imbalances in inner versus outer surface areas of the cell and hampers the interactions between the membraneous skeleton of the cells and certain tissues of the body.The abnormality in autosomal recessive abetalipoproteinemia (acanthocytosis) when brought about by the absence of beta-apolipoprotein, is better described in detail. Specifically, the lipids apoprotein B (ApoB) 48 and ApoB 100 are lacking as a result of abnormal cell assembly or faulty secretion of these lipids, leading to absent cell secretion from liver cells or intestinal cells.Acanthocytes are also found in myxedema (decreased thyroid activity, dry skin and mental deterioration) and in 20-65% of hypothyroidism cases. Serum lipid abnormalities are common in acanthocytosis.Acanthocytes are found in 50-90% of cells on peripheral blood smear findings in abetalipoproteinemia, which is a rare autosomal recessive disorder with only about 100 cases described worldwide. Acanthocytes are also relatively common in severe liver dysfunction and malnutrition. Spur cell hemolytic anemia of severe liver disease is an uncommon complication and depends on the incidence of the underlying hepatic or hepatotoxic disorder. It occurs most often in patients with alcoholic cirrhosis, which develops in 10-30% of all patients with alcoholism (approximately 10 million in the United States).Symptoms:Symptoms may include: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.
Diagnosis:Signs:CBC count reveals mild-to-moderate normocytic anemia with an elevated reticulocyte count. Peripheral blood smear findings reveal 0.2-90% acanthocytes.
  • Iron and folate may be deficient.
  • Direct antibody test results are negative.
  • Blood group may show McLeod or null Lutheran phenotype.
  • Total bilirubin and lactate dehydrogenase levels are elevated, reflecting the degree of hemolysis.
  • Liver function tests and total protein and albumin levels are abnormal in liver disease.
  • Serum creatine kinase is elevated in chorea-acanthocytosis and McLeod syndrome.
  • Plasma lipid profile may be abnormal. In abetalipoproteinemia, plasma cholesterol levels are very low, less than 50 mg/dL. Plasma phospholipid levels are very low. Plasma apolipoprotein B is absent. Chylomicrons, VLDLs, and LDLs are absent. Serum triglyceride levels are very low, less than 10 mg/dL. Plasma sphingomyelin levels are relatively increased at the expense of lecithin.
  • Levels of fat-soluble vitamins E, A, D, or K are decreased in abetalipoproteinemia, hypobetalipoproteinemia, and malnutrition.
  • Prothrombin time (PT) is prolonged in vitamin K deficiency.
  • Fecal fat is elevated in abetalipoproteinemia, hypobetalipoproteinemia, and malnutrition.
  • MTP (microsomal triglyceride transfer protein) or APOB or ApoB sequencing may identify mutations (not widely available).
  • Endocrine studies may reflect hypothyroidism or panhypopituitarism.
Tests that may be done to help diagnose this condition include:Apolipoprotein B blood test.
  • Blood tests to look for vitamin deficiencies (fat-soluble vitamins A, D, E, and K).
  • Complete blood count (CBC).
  • Cholesterol studies.
  • Electromyography.
  • Eye exam.
  • Nerve conduction velocity.
  • Stool sample analysis.
Treatment:Treatment of disorders with acanthocytosis depends on the underlying condition.Medical care of abetalipoproteinemia includes dietary restriction of long-chain fatty acids, with judicious supplementation with medium-chain triglycerides. Supplementation with lipid-soluble vitamins A, D, E, and K is necessary in large doses.Vitamin E supplementation may stabilize neuromuscular and retinal abnormalities. Iron and folate supplementation may be necessary. Occupational and physical therapy is recommended to treat progressive neurologic disease. Typical care for severe liver disease includes careful fluid management, correction of metabolic disturbances, treatment of hypoglycemia, and careful nutritional management. Encephalopathy requires decreasing ammonia production.NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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