Why the study?
Tangier disease is an extremely rare condition with limited published literature regarding its clinical manifestations, motivating an appraisal of recent advances.
This review highlights that both homozygous Tangier disease and heterozygous ABCA1 variants increase the risk of premature ASCVD, emphasizing the need for patient registries to better understand its clinical manifestations.
Supports genetic evaluation in early-onset ASCVD; leaves open prospective studies on Tangier therapies.
PURPOSE OF REVIEW: To appraise recent advances in our knowledge of the severe genetic HDL deficiency disorder, Tangier disease. RECENT FINDINGS: While Tangier disease can cause premature atherosclerotic cardiovascular disease (ASCVD), new evidence suggests that heterozygous ABCA1 variant carriers are also at increased risk. Advances have been made in the study of the neurological abnormalities observed in Tangier disease, both in their assessment and the identification of potential new therapies. SUMMARY: Tangier disease is an extremely rare condition and, as such, the published literature around its range of clinical manifestations, including peripheral neuropathy, premature ASCVD and platelet abnormalities is limited. Patient registries may assist in this regard.
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Hooper et al. (2020) studied this question.
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