LIMITATION OF FILIPIN STAINING TEST FOR NIEMANN-PICK DISEASE TYPE C

Niemann-Pick disease type C (NPC) is a progressive neurovisceral lysosomal cholesterol transportation and lipid storage disorder with a wide range of clinical symptoms. A disease such as NPC often remains unrecognized and diagnosis is usually delayed. Recently there has been some progress in diagnosing this rare disease. When clinical suspicion is present, diagnosis can be confirmed by some plasma biomarkers, molecular analysis of NPC1 and NPC2 genes and complemented by filipin cholesterol staining test of cultured skin fibroblasts. All of these laboratory methods have some limitations: specificity of the biomarkers is currently under investigation, genetic tests revealed variants of unknown significance, while laboratory tests, including cultured fibroblasts, are complex cell biology analyses. In this article we want to show the complexity of diagnosis of NPC and our experience with carrying out the Filipin test on cultured fibroblasts.