Plasma cholestanol analysis as a screening tool for rare disorder related to juvenile-onset unexplained cataracts
Plasma cholestanol analysis can be a valuable screening tool for cerebrotendinous xanthomatosis (CTX) in patients with juvenile-onset unexplained cataracts, even in the absence of other CTX symptoms, according to a study.
In this multicenter prospective cohort study, 30 patients with juvenile-onset unexplained bilateral cataracts, with a mean age at cataract diagnosis of 7.1 years, underwent a plasma cholestanol analysis at the time of diagnosis. Genetic testing for CYP27A1 mutations was carried out based on the ophthalmologist’s discretion.
The incidence of CTX within the patient cohort was 3.3%. Overall, 1 patient displayed a significantly high cholestanol level of 68 μmol/L (reference < 10) and carried 2 pathogenic heterozygous mutations in CYP27A1, confirming the diagnosis of CTX. This patient, a 19-year-old female, reported a history of chronic diarrhea during childhood and presented with bilateral posterior cataracts with cortical fleck-like opacities.
Furthermore, an additional 5 patients (17.2%) demonstrated moderate elevations in cholestanol levels, ranging from 10.3 to 16.5 μmol/L. When compared to a control cohort of patients without cataracts, the difference was statistically significant after adjusting for age. This suggests that moderate elevations in plasma cholestanol may also be associated with an increased risk of bilateral cataracts, warranting further investigation.
Reference
Fernández-Eulate G, Martin GC, Dureau P, et al. Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts. Orphanet J Rare Dis. 2022;17(1):434. doi: 10.1186/s13023-022-02591-4. PMID: 36514115; PMCID: PMC9749289.