Key result
Case report details diagnostic evaluation of suspected Tangier disease linked to ABCA1 gene variants.
Why the study?
Dysfunctional ABCA1 variants cause rare autosomal recessive Tangier disease and autosomal dominant familial HDL deficiency, both linked to increased cardiovascular risk, but diagnostic differentiation is challenging.
Case Report (n=4,028)
ABCA1 variants may explain some familial HDL deficiency cases; leaves open cardiovascular risk stratification in carriers.
Background: Dysfunctional variants in the ATP-binding cassette transporter A1 (ABCA1) gene cause the very rare and autosomal recessive Tangier disease.Classical clinical features include orange-coloured pharyngeal tonsils, hepatosplenomegaly and sensory neuropathy.Affected individuals have low levels of both HDL-cholesterol (HDL; <1 to 13% of normal) and apolipoprotein A1 (ApoA1).However, the autosomal dominant familial HDL deficiency (FHD) can also be caused by variant(s) in the ABCA1 gene and also presents with low levels of HDL (30 to 83% of normal) and ApoA1.The typical clinical presentation is of yellow/ brown xanthomata.Both conditions are associated with an increased risk of cardiovascular disease; with Tangier disease considered to carry a more significant risk.The conditions are thought to be related, where one ABCA1 variant is associated with FHD and two ABCA1 variants with Tangier disease. Case history: Adult female 65-year-old patient reviewed in the Lipid clinic. Steps to confirming a diagnosis;
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Genedy et al. (2026) conducted a case report in Familial hypercholesterolaemia / Tangier disease (n=4,028). Diagnostic evaluation was evaluated. The abstract outlines the diagnostic evaluation for a 65-year-old female patient with suspected Tangier disease or familial HDL deficiency related to ABCA1 gene variants.
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