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Acanthocytosis

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Brain & Nerve
Bone, Muscle, & Joint
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Contributed byMaulik P. Purohit MD MPHMar 04, 2019

What are the other Names for this Condition? (Also known as/Synonyms)

  • Hereditary Acanthocytosis

What is Acanthocytosis? (Definition/Background Information)

  • Acanthocytes are abnormal erythrocytes (or red blood cells) with spiny or thorny projections of cytoplasm. Acanthocytosis is an alteration in the red blood cells (RBCs) resulting in spiking of the RBC membrane (thorny projections are seen on the cell surface)
  • It is caused by an alteration in the lipid content of the membrane of RBC, due to a variety of conditions. Such conditions may include abetalipoproteinemia, liver disorders, McLeod syndrome, hypothyroidism, infantile pyknocytosis, neonatal hepatitis, and Zieve syndrome
  • More commonly acanthocytes are seen in autosomal recessive abetalipoproteinemia (also known as Bassen-Kornzweig syndrome). Acanthocytes are also seen in liver dysfunction, which causes an excess accumulation of abnormal proteins
  • Acanthocytosis affects various body parts such as the eye, skin, blood, and the neurological, digestive, and musculoskeletal systems. This may result in complications such as severe anemia, loss of vision, eye muscle weaknesses or paralysis, loss of movement, and dilated cardiomyopathy
  • The treatment of Acanthocytosis is based upon the underlying cause and it may include dietary modifications, vitamin supplementation, physical and occupational therapy. In some cases, a surgical removal of the spleen may be necessary
  • The prognosis of Acanthocytosis is dependent upon the causative factors and severity of the signs and symptoms. Appropriate treatment of the disorder can result in a better prognosis; however, severe complications can also result in death

Who gets Acanthocytosis? (Age and Sex Distribution)

  • Acanthocytosis, in most of the cases, appear during early infancy or childhood, but it is dependent upon the underlying condition
  • There is no distinct gender predilection observed
  • The condition is seen worldwide and can affect any racial or ethnic group

What are the Risk Factors for Acanthocytosis? (Predisposing Factors)

The risk factors associated with Acanthocytosis include:

  • A family history of certain disorders that which leads to the formation of acanthocytes
  • Severe malnutrition
  • Dysfunction of thyroid gland
  • Liver diseases and disorders

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one's chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Acanthocytosis? (Etiology)

Acanthocytosis occurs due to various underlying conditions that may be genetic or acquired. The causative factors of Acanthocytosis may include:

  • Autosomal recessive abetalipoproteinemia: Mutation in the microsomal triglyceride transfer protein (MTP) on chromosome 4 results in low concentration of cholesterol, VLDL, and LDL in the plasma
  • Homozygous autosomal dominant familial hypobetalipoproteinemia: It is a milder form of abetalipoproteinemia with APOB mutation on chromosome 2
  • Neuroacanthocytosis: Mutation in the VPS13A gene on chromosome 21 is observed in this condition. The caudate nucleus, putamen, and pallidum are the parts of the brain affected by atrophy of neurons and gliosis
  • Idiopathic neonatal hepatitis: This condition manifests as Acanthocytosis and hemolysis, though it resolves spontaneously over several months in 65% of the cases; 20% of the cases end in cirrhosis, 10-20% result in hepatocellular necrosis and death
  • Infantile pyknocytosis: This is a transient benign condition during early neonatal period. The RBCs are pyknotic (distorted, small, and irregular) and resemble acanthocytes. Even the transfused RBCs become pyknotic suggesting an extrinsic source. The exact cause of this disorder is unknown
  • Severe malnutrition, eating disorder such as anorexia nervosa, malabsorptive disorder such as celiac disease, and cystic fibrosis (disorder affecting the lungs and other organs): Acanthocytosis may occur due to malabsorption of lipids in the intestine and vitamin E deficiency
  • Hypothyroidism: 90% of the adults with Acanthocytosis are associated with hypothyroidism

In Acanthocytosis, the concentration of a lipid (called phosphatidylcholine) decreases, cholesterol and sphingomyelin content increases. The cells appear contracted, dense, and irregular. The morphology of the cells is similar during conditions such as abetalipoproteinemia, liver disorders, McLeod syndrome, hypothyroidism, infantile pyknocytosis, neonatal hepatitis, and Zieve syndrome.

What are the Signs and Symptoms of Acanthocytosis?

The signs and symptoms associated with Acanthocytosis are dependent upon the conditions causing Acanthocytosis. These may include:

  • Hemolytic (blood-related) signs and symptoms:

    • Pallor
    • Jaundice
    • Bleeding     
  • Ocular (eye) related signs and symptoms:

    • Loss of night vision, visual acuity, and color vision
    • Nystagmus (spontaneous horizontal movement of the eyeball) after age 10 years
    • Ophthalmoplegia (paralysis of eyeball movement) with strabismus (squint)       
    • Cataract
  • Gastrointestinal system related signs and symptoms:

    • Abdominal distention
    • Diarrhea with bulky stools
    • Vomiting      
    • Failure to thrive
    • Hepatomegaly: enlargement of liver
    • Splenomegaly (enlargement of spleen due to increased hemolysis in spleen)
    • Ascites (fluid in the peritoneal cavity)
  • Neurologic related signs and symptoms:

    • Loss of reflexes of the deep tendon
    • Loss of sensations primarily occurring in the distal extremities
    • Decreased sensation to touch and pain       
    • Reduced sensitivity to temperature, position
    • Decreased muscle strength
  • Skin related signs and symptoms:

    • Palmar erythema
    • Spider angiomas (dilated central blood vessel with radiating branches on the skin seen in liver dysfunction)
    • Abdominal wall collateral veins (due to liver dysfunction and portal hypertension)
    • Recurrent skin infections      
  • Skeletomuscular findings

    • Muscular atrophy
    • Muscle contractures
    • Kyphoscoliosis: Abnormal curvature of spine      
    • Pes cavus (high arched foot)
    • Pes equinovarus (horse foot)

How is Acanthocytosis Diagnosed?

The diagnosis of Acanthocytosis may involve:

  • Complete evaluation of medical history along with a thorough physical exam

Blood tests, which may indicate the following abnormalities:

  • Mild to moderate anemia with elevated reticulocyte count
  • Iron and folate deficiency
  • Elevated indirect bilirubin, lactate dehydrogenase  suggestive of hemolysis
  • Elevated liver enzymes and low albumin in liver disorders
  • Elevated creatinine kinase in Chorea-Acanthocytosis and McLeod syndrome
  • Abnormal lipid profile with cholesterol level less than 50mg/dl, low triglycerides, VLDL, and LDL
  • Fat soluble vitamins, such as A, D, E, and K, may show decreased levels
  • Prolonged prothrombin time in vitamin K deficiency

Other tests may also be performed to indicate the following findings:

  • Elevated fecal fat in abetalipoproteinemia
  • Hypothyroidism and pan-hypopituitarism (hyposecretion of pituitary hormones)
  • Nerve conduction velocity (NCV) test: The results may indicate reduced nerve conduction parameters
  • Intestinal and peripheral nerve biopsy may be necessary when abetalipoproteinemia is suspected

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Acanthocytosis?

Complications associated with Acanthocytosis include:

  • Severe anemia due to associated iron and folate malabsorption
  • Retinitis pigmentosa leading to night blindness and loss of vision
  • Ophthalmoplegia: Paralysis and weakness of the eye muscles
  • Neurologic manifestations may be severe with loss of sensations, movement, and ambulation (the affected individuals may be unable to walk)
  • McLeod syndrome may cause seizures, heart rhythm abnormalities (arrhythmias), and dilated cardiomyopathy

How is Acanthocytosis Treated?

The treatment of Acanthocytosis is undertaken based upon the underlying causative condition. It may include the following factors:

  • Medical management of abetalipoproteinemia may include dietary restriction of long-chain fatty acids, with judicious supplementation of medium-chain triglycerides
  • Replacement of fat soluble vitamins (A, D, E, and K) is essential. Supplementation using vitamin E can help signs and symptoms related to the eye (retina), muscles and nerves
  • Supplementation of iron and folate
  • Occupational and physical therapy may be provided to treat disorders that affect movement, ambulation, and sensation (neurological conditions)
  • Liver disease may be managed through correcting fluid imbalances, metabolic disruptions, and proper nutritional management
  • Treatment of hypoglycemia
  • Surgical treatment: A splenectomy (removal of spleen) can help improve hemolysis and is generally performed as a last resort

How can Acanthocytosis be Prevented?

  • Prevention of Acanthocytosis depends upon preventing and appropriately managing the underlying cause. In some cases, the condition cannot be prevented
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child (in case of genetic conditions such as abetalipoproteinemia, or neuroacanthocytosis and McLeod syndrome)
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorder

What is the Prognosis of Acanthocytosis? (Outcomes/Resolutions)

  • The prognosis of Acanthocytosis depends upon the underlying condition. If the underlying condition is appropriately treated the prognosis is generally good
  • Complications of abetalipoproteinemia are fatal and can lead to death in the second or third decade of life
  • Neuroacanthocytosis may decrease the life expectancy depending on its severity

Additional and Relevant Useful Information for Acanthocytosis:

  • Acanthocytes are seen in autosomal recessive abetalipoproteinemia (also known as Bassen-Kornzweig syndrome). In this condition, there is a deficiency of apoprotein B (Apo B 48 and B100), which in turn decreases the production of chylomicrons that are required for fat absorption in the intestine. This results in fat malabsorption. The red blood cells in this disorder are also deficient in vitamin E, which is an antioxidant in RBCs. The deficiency causes accumulation of oxidant molecules in the RBC and lead to early hemolysis (cell lysis)
  • In McLeod syndrome, the RBCs lack the Kx antigen which is a precursor for Kell antigen. It plays a vital role in maintaining the integrity of the cell membrane. This is associated with the chronic granulomatous disease
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Maulik P. Purohit MD MPH picture
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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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