ArticleThe Journal of clinical endocrinology and metabolism2025
Lipid Dysregulation in Tangier Disease: A Case Series and Metabolic Characterization.
Article in The Journal of clinical endocrinology and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 3 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
3 citing papers in PubMed.
- Tangier Disease.Current atherosclerosis reports · 2026Review
- Review
- Monitoring of mental health in occupational populations: a study on the role and application of HDL-related inflammatory index.Frontiers in public health · 2025Article
Corrections and comments
- Erratum issued
Authors and funding
20 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextTangier disease (TD) is a rare, autosomal recessive genetic disorder associated with a deficiency in cellular cholesterol export leading to cholesterol accumulation in peripheral tissues. With approximately 150 described cases, the disease is significantly understudied, and the clinical presentation appears to be heterogenous.
objectiveTo investigate the phenotype and lipid metabolism in TD.
designMulticenter cohort study. PATIENTS: Four patients with TD.
main outcome measuresNuclear magnetic resonance (NMR)-based lipidomic and metabolomic analyses were performed in patients with TD and healthy controls.
resultsWhile showing similar laboratory patterns with respect to high-density lipoprotein (HDL) depletion, the clinical presentation of 4 TD patients was heterogenous with 2 patients diagnosed at 47 and 72 years having predominantly gastrointestinal and neurological phenotypes. Two previously undescribed variants (c.2418G > A, c.5055.del) were reported.Apart from pathognomonic changes in HDL composition, NMR spectroscopy revealed an increased abundance of very low-density lipoprotein (VLDL) with higher total lipid and cholesterol concentrations, pointing toward an impaired clearance of triglyceride-rich lipoproteins. Increased triglyceride-rich intermediate-density lipoprotein supports impaired hepatic lipase activity, together with a cholesteryl ester transfer protein-mediated increase in low-density lipoprotein (LDL)-triglycerides at higher abundance of large LDL subtypes and decreased small dense LDL.The lipid composition of HDL particles and LDL-1/LDL-4 remained the strongest differentiating factors as compared to healthy controls.
conclusionClinical phenotypes of TD can be heterogeneous including gastrointestinal and neurological manifestations. Impaired triglyceride-rich lipoprotein clearance and hepatic lipase activity could be a pathophysiological hallmark of TD.
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