Etiology:
Liver disease: End-stage cirrhosis alters RBC membrane lipids
Neuroacanthocytosis syndromes (e.g., McLeod syndrome, abetalipoproteinemia)
Lipid metabolism disorders
- Pathogenesis:
Defective RBC membrane lipids → spiky, irregularly shaped RBCs (acanthocytes)
These cells are rigid and prone to splenic destruction
Leads to hemolytic anemia and splenomegaly
- Clinical Features:
Anemia: Fatigue, pallor, weakness
Jaundice (due to hemolysis)
Neurologic symptoms: In neuroacanthocytosis (e.g., dystonia, chorea)
Fat malabsorption: In abetalipoproteinemia (steatorrhea, vitamin deficiencies)
- Treatment:
Treat underlying cause (e.g., manage liver disease, nutritional supplementation)
Vitamin E supplementation (if due to lipid metabolism disorder)
Supportive therapy (blood transfusions in severe cases)