ACANTHOCYTOSIS: WHAT IS ACANTHOCYTOSIS?
Definition: What is "Acanthocytosis"?
Acanthocytosis is a phenotype of the red cell which can be found in different fundamental conditions. Bassen-Kornzweig syndrome or Abetalipoproteinemia; & an acute disease of the liver (spur cell hemolytic anemia) are the most common conditions that can be associated with acanthocytosis. Acantha is a Greek word for thorn & it is fitting that it is given to name the spur cells that have projections of different sizes which are the acanthocytes. These cells appear to be contracted, irregular & dense. The formation of these cells depends on the alteration of the fat composition & the fluidity of red cell's membrane.
Globally, acanthocytosis is still a rare disease. Acanthocytes can be found in 50-90% of cellular peripheral blood smears in abetalipoproteinemia. This is a rare autosomal recessive disease with approximately just 100 cases worldwide. A complication called hepatotoxic or hepatic disorder is rare, too. It occurs only in patients with cirrhosis caused by severe alcoholism (about 10-30% of alcoholic patients & approximately 10 million in the whole of United States.
Mortality or Morbidity
The mortality rate of acanthocytosis caused by abetalipoproteinemia is still not fully described by any studies. The rarity of the illness could account for the limited amount of information. The patient could spend a normal life span & the prognosis is very favorable. All the patient needs to do is to have a daily dose of vitamins & other dietary supplements to keep him healthy. Also, early diagnosis of the illness would help in the treatment of the condition. The only complication that could lead to death is when the liver suffers from acute dysfunction. This condition can have a higher risk for mortality. 65% of neonatal hepatitis patients can be treated in about a few weeks to just a few months. Malnutrition could easily be resolved with proper diet.
Characteristics & Features
Acanthocytes are also seen in neuroacanthocytosis, states of malnutrition, anorexia nervosa & infantile pyknocytosis. It is also evident in neonatal hepatitis, hypothyroidism, hemolysis, spherocytosis & also congestive splenomegaly. Conditions could also include homozygous familial hypobetalipoproteinemia, acute granulomatous disease & Zieve syndrome. Physical defects could include pallor or jaundice; the eyes could also be affected by cataract, progressive exotropia, loss of vision during the night, etc. When it comes to the digestive system, the issues include abdominal distention, hepatomegaly, splenomegaly & ascites. Edema & muscular atrophy are also common signs.
All ethnic races have had their share of acanthocytosis.