The differential diagnosis is:
(1) A-beta-lipoproteinaemia (aka Bassen Kornzweig syndrome) with
absence of apo B; and vitamin E deficiency. Pathophysiology is failure
of normal assembly of apo B particles in the liver. No problem with the
apo B gene.
(2) Hypo-beta-lipoproteinaemia. Defect in the apo B gene resulting in
a truncated variant, associated with low apo B, low LDL and usually not
vitamin E deficiency.
A Western blotting approach may be the initial way to demonstrate a
truncated apo B variant (Biochim Biophys Acta 1992; 1138: 290-6) before
proceeding to mutational analysis.
Dr Chris Florkowski
Christchurch, NZ
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