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Acanthocytosis – Causes, Symptoms and Treatment
Acanthocytosis refers to the presence of acanthocytes – spiky, irregularly shaped red blood cells – in the blood. It can indicate rare metabolic or neurological disorders.
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Acanthocytosis refers to the presence of acanthocytes – spiky, irregularly shaped red blood cells – in the blood. It can indicate rare metabolic or neurological disorders.
What Is Acanthocytosis?
Acanthocytosis is a medical term describing the increased presence of acanthocytes in the blood. Acanthocytes are red blood cells (erythrocytes) with an irregular, spiked surface – resembling the appearance of a sea urchin or coral. The name derives from the Greek word akantha, meaning thorn or spike. Normally, red blood cells are smooth and disc-shaped; in acanthocytosis, they display unevenly distributed, finger-like projections on their surface.
Causes
Acanthocytosis is usually a sign of an underlying condition. The most common causes can be grouped as follows:
Genetic Conditions
- Abetalipoproteinemia (Bassen-Kornzweig syndrome): A rare inherited disorder in which the body cannot properly absorb certain fats and fat-soluble vitamins. The absence of specific lipoproteins alters the membrane structure of red blood cells.
- Chorea-acanthocytosis: A rare hereditary neurodegenerative disorder characterized by acanthocytosis alongside involuntary movements (chorea), muscle wasting, and psychiatric symptoms.
- McLeod syndrome: An X-linked inherited condition involving a defect in the Kell blood group system, causing acanthocytosis and neuromuscular complications.
Acquired Causes
- Severe liver disease: Liver cirrhosis or advanced liver failure can alter the composition of the red blood cell membrane, producing acanthocytes (known as spur cell anemia).
- Hypothyroidism: An underactive thyroid gland may, in rare cases, contribute to acanthocytosis.
- Malnutrition and vitamin E deficiency: Severe vitamin E deficiency can impair the membrane stability of red blood cells.
- Uremia: Severe kidney dysfunction can also lead to the formation of acanthocytes.
Symptoms
Acanthocytosis itself does not cause specific symptoms – it is primarily a laboratory finding. Symptoms arise from the underlying condition and may include:
- Anemia: fatigue, pallor, shortness of breath
- Neurological symptoms: involuntary movements, gait disturbances, cognitive impairment (in genetic forms)
- Muscle weakness and muscle wasting
- Psychiatric changes such as personality alterations (in chorea-acanthocytosis or McLeod syndrome)
- Signs of liver disease: jaundice, ascites (in acquired forms)
Diagnosis
Diagnosis is made through a blood examination. A blood smear – in which a thin layer of blood is spread on a glass slide and viewed under a microscope – allows the characteristic spiky red blood cells to be identified. Additional diagnostic steps include:
- Complete blood count and differential blood count
- Blood lipid panel, liver function tests, and kidney function tests
- Genetic testing when a hereditary form is suspected
- Neurological examination and imaging (e.g., MRI of the brain) when neurological symptoms are present
- Kell blood group typing when McLeod syndrome is suspected
Treatment
There is no specific treatment for acanthocytosis itself. Therapy is directed at the underlying cause:
- Abetalipoproteinemia: High-dose supplementation of fat-soluble vitamins (A, D, E, K) and a low-fat diet with medium-chain fatty acids.
- Liver disease: Treatment of the underlying liver condition; in severe cases, liver transplantation may be considered.
- Chorea-acanthocytosis and McLeod syndrome: Symptomatic management of neurological and psychiatric symptoms; no curative treatment is currently available.
- Anemia: Blood transfusions may be required depending on severity.
References
- Walker RH et al. - Neuroacanthocytosis syndromes. Orphanet Journal of Rare Diseases, 2011.
- Pagon RA et al. (eds.) - GeneReviews: Neuroacanthocytosis Overview. NCBI Bookshelf, National Library of Medicine, 2019.
- Lux SE - Anatomy of the red cell membrane skeleton: unanswered questions. Blood, 2016; 127(2):187-199.
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