From the Research
Acanthocytes are abnormal red blood cells with irregular spiky projections on their surface, and their diagnosis and treatment depend entirely on the underlying cause, with common causes including abetalipoproteinemia, liver disease, neuroacanthocytosis, and malnutrition. The diagnosis of acanthocytosis involves a complete blood count with peripheral blood smear examination, where these distinctive spiky cells can be identified microscopically 1.
Common Causes and Treatment
- Abetalipoproteinemia: treated with high doses of fat-soluble vitamins A, D, E, and K, along with a low-fat diet, with vitamin E typically administered at 100-300 IU/kg/day, vitamin A at 100-400 IU/kg/day, and vitamin K at 5-10 mg/day 2
- Liver disease: managed by treating the underlying liver condition
- Neuroacanthocytosis: symptomatic treatment for neurological symptoms
- Malnutrition: nutritional supplementation Regular monitoring of blood counts, liver function, and vitamin levels is essential for patients with acanthocytosis, as the presence of these abnormal cells reflects alterations in the red blood cell membrane composition, often due to changes in lipid content or protein abnormalities that affect membrane stability and flexibility, explaining their characteristic thorny appearance 3, 4.
Key Considerations
- Acanthocytosis is a symptom rather than a disease, and treatment should focus on addressing the underlying cause
- Neuroacanthocytosis syndromes, such as McLeod syndrome and chorea-acanthocytosis, require symptomatic treatment for neurological symptoms and regular monitoring for complications such as cardiomyopathy 1
- Abetalipoproteinemia and other disorders of lipoprotein metabolism may require long-term treatment with fat-soluble vitamins to prevent complications such as retinitis pigmentosa and neuropathy 2