Acanthocytosis
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Editor-in-Chief: M.Umer Tariq [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.
Causes
Acanthocytosis is a red cell phenotype associated with various underlying conditions. The most frequent and most significant conditions include abetalipoproteinemia (Bassen-Kornzweig syndrome) and spur cell hemolytic anemia of severe liver disease. Other, less frequent conditions include the following:
- Neuroacanthocytosis
- Anorexia nervosa and other malnutrition states
- Infantile pyknocytosis
- McLeod syndrome
- In(Lu) null Lutheran phenotype
- Hypothyroidism
- Idiopathic neonatal hepatitis
- Myxedema
- Transient hemolysis and stomatocytosis in individuals with alcoholism and mild hemolysis and spherocytosis in individuals with congestive splenomegaly
- Homozygous familial hypobetalipoproteinemia
- Zieve syndrome
- Chronic granulomatous disease (CGD) associated with McLeod red cell phenotype
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.
Physical Examination
- Hematologic
- Ocular
- Progressive retinitis pigmentosa with loss of night vision, visual acuity, and color vision
- Nystagmus after age 10 years
- Ophthalmoplegia with strabismus
- Progressive exotropia
- Cataracts
- GI
- Abdominal distention
- Failure to thrive, with short stature and decreased weight
- Hepatomegaly
- Splenomegaly
- Ascites
- Neurologic
- Loss of deep tendon reflexes
- Decreased sensation to touch, pain, temperature, and position
- Stocking-glove distribution of hypoesthesia
- Decreased muscle strength
- Intention tremors and progressive ataxia with clumsiness and gait disturbances, dysarthria, dysdiadochokinesis, and dysmetria
- Chorea
- Mental retardation, cognitive decline, neuropsychological abnormalities
- Altered mental status
- Fatigue
- Cold intolerance
- Skin palmar erythema
- Spider angiomas
- Abdominal wall collateral veins
- Edema
- Recurrent skin infections
- Skeletomuscular
- Muscular atrophy
- Muscle contractures
- Kyphoscoliosis
- Pes cavus
- Pes equinovarus
Laboratory Findings
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.
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Acanthocytes -
Acanthocytes
