Abetalipoproteinemia

Roshni Sonawane
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Biochemical
a) Screening test: Lipid profile. An abnormal lipid profile showing extremely low levels of the lipoproteins, lipids (cholesterol and TG) and lipid-soluble vitamins. A typical picture is:
i) Nearly absent LDL-Cholesterol (<0.1 mmol/L),
ii) TG (<0.2 mmol/L),
iii) Apo B (<0.1 g/L),
iv) Low-fat soluble vitamins A, D, E and K and
b) Absent beta-lipoprotein band on agarose electrophoresis
c) Liver Function tests: Serum transaminases baseline and regular monitoring for hepatic involvement

a) Full Blood Count for anemia
b) Peripheral smear for acanthocytosis
c) Erythrocyte sedimentation rate : reduced

Ophthalmic:
a) Funduscopy
b) Electroretinogram and
c) Fluoroscein angiography

Electrophysiological:
a) SSEP- Somatosensory evoked potentials
b) VEPs -Visual Evoked Potentials

GI endoscopy

Genetic testing is primarily used for confirmation of the diagnosis where abetalipoproteinemia is suspected in a patient. It has no role in predictive testing or pre-natal diagnosis.

The characteristic features seen in almost all patients with abetalipoproteinemia are: the abnormal lipid profile, acanthocytosis on peripheral smear and symptoms of fat malabsorption.

The typical neurological and ophthalmic manifestations are present in most patients with abetalipoproteinemia if not all and can support the diagnosis.


References
Abetalipoproteinemia Abetalipoproteinemia 03/14/2016
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