New LC-MS/MS method simplifies diagnosis of rare lipid disorders

Researchers have developed a simple, rapid, and reliable liquid chromatography tandem mass spectrometry (LC-MS/MS) method for measuring diagnostically important sterols in blood, which can improve the diagnosis and monitoring of rare lipid disorders such as sitosterolemia, Smith-Lemli-Opitz syndrome (SLOS), and cerebrotendinous xanthomatosis (CTX), while being compatible with routine clinical workflows.

The new technique utilizes isotope-dilution LC-MS/MS without derivatization.

In a study analyzing serum from 125 controls and 9 patients with rare lipid disorders, the method effectively differentiated patient samples from controls. Sitosterolemia patients showed markedly elevated plant sterols, SLOS serum contained high 7-dehydrocholesterol (7DHC) levels, and CTX serum revealed elevated cholestanol, 7DHC, and lathosterol.

Reference
Westbye AB, Dizdarevic LL, Dahl SR, et al. A Sterol Panel for Rare Lipid Disorders: Sitosterolemia, Cerebrotendinous Xanthomatosis and Smith-Lemli-Opitz Syndrome. J Lipid Res. 2024;100698. doi: 10.1016/j.jlr.2024.100698. Epub ahead of print. PMID: 39566847.