Acanthocytosis overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Acanthocytosis is a digestive disorder that is characterized by the absence of very low density lipoproteins (VLDL) and chylomicrons in the plasma. Acanthocyte is a general term meaning 'spiny cell'. AKA "spur cell" in more severe cases In human biology and medicine, the term refers to pathological red blood cells, which are coarse and irregularly crenelated resembling many-pointed stars. They are seen on blood films in, among others, lipid abnormalities, liver disease, chorea acanthocytosis, McLeod syndrome and several inherited neurological disorders, such as neuroacanthocytosis.
Pathophysiology
The imbalance in membrane lipids due to various abnormalities mainly in the liver, cause cells to stiffen, wrinkle and form spicules.
Diagnosis
History and Symptoms
Patients with acanthocytosis may have a history of chronic diarrhea with pale, foul-smelling, and bulky stools; loss of appetite and vomiting; and slow weight gain and decreased growth, possibly including a bleeding tendency. Patients may report symptoms of ataxia, tremors, and visual abnormalities or jaundice, abdominal pain, pallor, dark urine, and recurrent infections. Adolescents and adults may report dyskinesias, specifically orolingual, and cognitive deterioration.