Tangier Disease.
Sabitha Sasidharan Pillai, Preneet Cheema Brar, Ambika P Ashraf
✦ AI-curated · Sources linked
Case in brief
Two patients with Tangier disease (TD) were evaluated. The first patient was diagnosed through a tonsillectomy specimen showing histopathological features of TD and had a compound heterozygous variant in the ABCA1 gene. The second patient was identified due to low high-density lipoprotein cholesterol levels and had a homozygous pathogenic variant in ABCA1. Both cases highlight the genetic underpinnings of TD.
Diagnostic / clinical pearl
Clinicians should consider Tangier disease in patients with low HDL-C levels and relevant genetic variants, as it can present with distinctive histopathological findings.
Why it matters
Understanding the genetic basis of Tangier disease can facilitate accurate diagnosis and variant classification, which is crucial for patient management.