Table 2. [Disorders to Consider in the Differential Diagnosis of Abetalipoproteinemia]. - GeneReviews®

Differential Disorder	Gene	MOI	Clinical Features of Differential Disorder
Homozygous hypobetalipoproteinemia (See APOB-Related Familial Hypobetalipoproteinemia.)	APOB	AR	Clinical features are indistinguishable.	Only distinguishing feature: lipid levels in heterozygotes. Obligate heterozygote parents have: Normal lipid levels in abetalipoproteinemia; LDL-cholesterol levels <50% of normal in hypobetalipoproteinemia.
Chylomicron retention disease	SAR1B	AR	May be clinically similar (failure to thrive, steatorrhea)	In chylomicron retention disease, LDL-cholesterol & apoB levels are low but not absent; triglyceride is normal & creatine kinase is high (1.5-5x upper reference limit); affected persons do not typically develop pigmentary retinopathy or acanthocytosis.
McLeod neuroacanthocytosis syndrome (MLS)	XK	XL	Acanthocytosis Peripheral neuropathy	MLS is X-linked; affected persons have normal lipid profiles & no manifestations of fat-soluble vitamin deficiency (e.g., retinal disease, bone abnormalities, coagulopathy).
Friedreich ataxia	FXN	AR	Broad-based, high stepping gait Loss of proprioception Loss of deep tendon reflexes	Affected persons have normal lipid profiles & no manifestations of fat-soluble vitamin deficiency (e.g., retinal disease, bone abnormalities, coagulopathy).

Differential Disorder

Gene

MOI

Clinical Features of Differential Disorder

Overlapping w/abetalipoproteinemia

Distinguishing from abetalipoproteinemia

Homozygous hypobetalipoproteinemia (See APOB-Related Familial Hypobetalipoproteinemia.)

APOB

Clinical features are indistinguishable.

Only distinguishing feature: lipid levels in heterozygotes. Obligate heterozygote parents have:

Normal lipid levels in abetalipoproteinemia;
LDL-cholesterol levels <50% of normal in hypobetalipoproteinemia.

Chylomicron retention disease

SAR1B

May be clinically similar (failure to thrive, steatorrhea)

In chylomicron retention disease, LDL-cholesterol & apoB levels are low but not absent; triglyceride is normal & creatine kinase is high (1.5-5x upper reference limit); affected persons do not typically develop pigmentary retinopathy or acanthocytosis.

McLeod neuroacanthocytosis syndrome (MLS)

Acanthocytosis
Peripheral neuropathy

MLS is X-linked; affected persons have normal lipid profiles & no manifestations of fat-soluble vitamin deficiency (e.g., retinal disease, bone abnormalities, coagulopathy).

Friedreich ataxia

FXN

Broad-based, high stepping gait
Loss of proprioception
Loss of deep tendon reflexes

Affected persons have normal lipid profiles & no manifestations of fat-soluble vitamin deficiency (e.g., retinal disease, bone abnormalities, coagulopathy).

From: Abetalipoproteinemia

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.