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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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Things worth knowing about "Acanthocytosis"

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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