Abnormalities of membrane lipids

Acanthocytosis

Acanthocytes, or spur cells, show prominent, somewhat regular projections on the surface, best demonstrated by scanning electron microscopy. They are formed when the outer lipid layer of the membrane acquires additional lipid. Acanthocytosis is an acquired characteristic of severe liver disease, usually end stage, and the result of interaction of altered plasma lipids.

A-P-lipoproteinaemia

A-P-lipoproteinaemia is a rare inherited defect with absent P-apolipoprotein, which results in low serum cholesterol but increased sphingomyelin, which enters the cell membrane and produces the acanthocytes. The main clinical features are retinitis pigmentosa, fat malabsorption and hepatic encephalopathy.

McLeod phenotype

In the McLeod phenotype, acanthocytosis occurs (Figure 8.10), together with decreased expression of the Kell antigen. The defective gene is on the X chromosome, Xp21, close to genes for Duchenne muscular dystrophy and retinitis pigmentosa, conditions with which the phenotype has been linked. The gene codes for the Kx protein that carries the Kell blood group protein. There may be mild anaemia.

Figure 8.10 McLeod syndrome, peripheral blood. Note the marked acanthocytosis.

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