Acanthocytosis

Definition

Definition of Acanthocytosis
A rare disorder where most of the red blood cells are abnormal with spiny projections due to lipid abnormalities. The blood abnormality is seen in conditions such as abetalipoproteinemia, severe liver disease and severe malnutrition.

Symptoms

Symptoms of Acanthocytosis
The list of signs and symptoms for Acanthocytosis includes the 44 symptoms listed below:

1. Acanthocytes
2. Pallor
3. Jaundice
4. Bleeding
5. Enlarged lymph nodes
6. Chronic diarrhea
7. Pale stool
8. Foul-smelling stool
9. Bulky stool
10. Loss of appetite
11. Vomiting
12. Slow weight gain
13. Retarded growth
14. Ataxia
15. Tremors
16. Vision problems
17. Abdominal pain
18. Dark urine
19. Recurring infections
20. Dyskinesia
21. Muscle wasting
22. Muscle contractures
23. Cognitive deterioration
24. Cataracts
25. Bulging eyes
26. Nystagmus
27. Progressive loss of night vision
28. Progressive loss of visual acuity
29. Progressive loss of color vision
30. Distended abdomen
31. Failure to thrive
32. Short stature
33. Loss of deep tendon reflexes
34. Reduced touch sensation
35. Reduced pain sensation
36. Reduced temperature sensation
37. Enlarged liver
38. Enlarged spleen
39. Ascites
40. Mental retardation
41. Fatigue
42. Cold intolerance
43. Reduced muscle strength
44. Abnormal blood lipids

Causes

Causes of Acanthocytosis
The follow list is possible medical causes of Acanthocytosis:

1. Cirrhosis of liver
2. McLeod neuroacanthocytosis syndrome
3. McLeod phenotype
4. Abetalipoproteinaemia
5. HARP syndrome
6. Hypothyroidism
7. Myelodysplastic syndrome
8. Renal failure, chronic
9. Chylomicron retention disease
10. Chorea-acanthocytosis syndrome
11. Anorexia nervosa

Pathophysiology

Pathophysiology of Acanthocytosis
The description of acanthocyte pathophysiology varies depending on the underlying condition. Acanthocytes can be caused by (1) altered distribution or proportions of membrane lipids or by (2) membrane protein or membrane skeleton abnormalities. In membrane lipid abnormalities, previously normal red cell precursors often acquire the acanthocytic morphology from the plasma. Altered membranes may contain decreased phosphatidylcholine levels but increased levels of cholesterol and sphingomyelin. The imbalance in membrane lipids causes cells to stiffen, wrinkle, pucker, and form spicules because of a relative increase of the outer hemileaflet's surface area compared with the inner hemileaflet's surface area. In membrane protein or membrane skeleton abnormalities, the defect is intrinsic but, again, causes imbalances in inner versus outer leaflet surface areas and abnormal interaction between the membrane skeleton and lipid membrane.

Treatment

Treatment of Acanthocytosis
Treatment of disorders with acanthocytosis depends on the underlying condition.

Medical care of abetalipoproteinemia includes dietary restriction of long-chain fatty acids, with judicious supplementation with medium-chain triglycerides. Supplementation with lipid-soluble vitamins A, D, E, and K is necessary in large doses.

Vitamin E supplementation may stabilize neuromuscular and retinal abnormalities. Iron and folate supplementation may be necessary. Occupational and physical therapy is recommended to treat progressive neurologic disease. Typical care for severe liver disease includes careful fluid management, correction of metabolic disturbances, treatment of hypoglycemia, and careful nutritional management. Encephalopathy requires decreasing ammonia production.