Table 2.

Disorders with Severe HDL Deficiency to Consider in the Differential Diagnosis of Tangier Disease

DisorderGeneMOIDistinguishing Features
Apo A-I deficiency 1 APOA1 ARPlasma apo A-I is undetectable (compared w/very low plasma apo A-I in Tangier disease) 2
LCAT deficiency 1
(OMIM 245900)		 LCAT ARMarked corneal opacification (plus renal disease in individuals w/complete LCAT deficiency) 2
Fish eye disease 1
(OMIM 136120)

Apo A-I = apolipoprotein A-I; AR = autosomal recessive; LCAT = lecithin cholesterol acyltransferase; MOI = mode of inheritance

1.
2.

Only the biochemical perturbation is expressed in individuals who are heterozygous for an APOA1 or LCAT pathogenic variant; the biochemical perturbation can be indistinguishable from that observed in individuals heterozygous for an ABCA1 pathogenic variant [Geller et al 2018].

From: Tangier Disease

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