Hereditary Acanthocytosis

Hereditary Acanthocytosis

Article
Brain & Nerve
Bone, Muscle, & Joint
+7
Contributed byMaulik P. Purohit MD MPHMar 12, 2018

The topic Hereditary Acanthocytosis you are seeking is a synonym, or alternative name, or is closely related to the medical condition Acanthocytosis.

Quick Summary:

  • 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

Please find comprehensive information on Acanthocytosis regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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