Makindo Medical Notes

Acanthocytosis is a medical condition characterized by the presence of acanthocytes (spiculated red blood cells) in the blood. These abnormal red blood cells have spiked cell membranes and can be indicative of various underlying disorders.

Causes of Acanthocytosis

• Inherited Disorders:
  • Abetalipoproteinemia (Bassen-Kornzweig syndrome): A rare inherited disorder affecting fat absorption and transport.
  • Neuroacanthocytosis syndromes: A group of rare genetic conditions, including chorea-acanthocytosis and McLeod syndrome, that affect the nervous system and red blood cells.
• Acquired Conditions:
  • Liver Disease: Advanced liver disease, such as cirrhosis, can lead to the formation of acanthocytes.
  • Malnutrition: Severe vitamin E deficiency, often associated with fat malabsorption, can cause acanthocytosis.
  • Hypothyroidism: An underactive thyroid gland may contribute to the development of acanthocytes.

Clinical Features

• Neurological Symptoms:
  • Movement disorders: Involuntary movements, muscle stiffness, and coordination problems.
  • Peripheral neuropathy: Numbness, tingling, and weakness in the limbs.
  • Cognitive impairment: Difficulty with memory, attention, and other cognitive functions.
• Hematological Symptoms:
  • Haemolytic anaemia: Fatigue, pallor, and jaundice due to the destruction of red blood cells.
  • Splenomegaly: Enlargement of the spleen, which can further contribute to red blood cell destruction.
• Gastrointestinal Symptoms:
  • Malabsorption: Diarrhea, steatorrhea (fatty stools), and weight loss due to impaired fat absorption.
  • Fat-soluble vitamin deficiencies: Deficiencies in vitamins A, D, E, and K, leading to various complications.

Diagnosis

• Blood Tests:
  • Peripheral blood smear: Microscopic examination of a blood smear to identify acanthocytes.
  • Complete blood count (CBC): To assess overall blood health and identify anaemia or other abnormalities.
  • Liver function tests: To evaluate liver health and function.
  • Lipid profile: To check for abnormalities in fat metabolism.
• Genetic Testing:
  • Used to identify specific genetic mutations associated with inherited forms of acanthocytosis.
• Neurological Assessment:
  • Comprehensive neurological examination to evaluate movement disorders and cognitive function.

Treatment

• Management of Underlying Conditions:
  • Liver disease: Treating the underlying liver condition to improve overall health and reduce acanthocyte formation.
  • Malnutrition: Addressing vitamin and nutrient deficiencies, particularly vitamin E supplementation.
  • Hypothyroidism: Treating with thyroid hormone replacement therapy.
• Supportive Care:
  • Physical therapy: To manage movement disorders and improve mobility.
  • Speech therapy: For individuals with speech and swallowing difficulties.
  • Nutritional support: Ensuring adequate intake of essential nutrients, including fat-soluble vitamins.

Summary

Acanthocytosis is characterized by the presence of spiculated red blood cells in the blood and can be caused by inherited disorders, liver disease, malnutrition, and hypothyroidism. It presents with neurological, hematological, and gastrointestinal symptoms. Diagnosis involves blood tests, genetic testing, and neurological assessment. Treatment focuses on managing underlying conditions and providing supportive care to improve quality of life.