PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease.

Journal of Inherited Metabolic Disease
Marloes L C HagemansAns T van der Ploeg

Abstract

Screening of blood films for the presence of periodic acid-Schiff (PAS)-positive lymphocyte vacuoles is sometimes used to support the diagnosis of Pompe disease, but the actual diagnostic value is still unknown. We collected peripheral blood films from 65 untreated Pompe patients and 51 controls. Lymphocyte vacuolization was quantified using three methods: percentage vacuolated lymphocytes, percentage PAS-positive lymphocytes, and a PAS score depending on staining intensity. Diagnostic accuracy of the tests was assessed using receiver operating characteristic (ROC) curves. All three methods fully discerned classic infantile patients from controls. The mean values of patients with milder forms of Pompe disease were significantly higher than those of controls, but full separation was not obtained. The area under the ROC curve was 0.98 for the percentage vacuolated lymphocytes (optimal cutoff value 3; sensitivity 91%, specificity 96%) and 0.99 for the percentage PAS-positive lymphocytes and PAS score (optimal cutoff value 9; sensitivity 100%, specificity 98%). Our data indicate that PAS-stained blood films can be used as a reliable screening tool to support a diagnosis of Pompe disease. The percentage of PAS-positive lymphocytes i...Continue Reading

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Oct 22, 2008·Lancet·Ans T van der Ploeg, Arnold J J Reuser
Mar 26, 2009·JAMA : the Journal of the American Medical Association·Barry J MaronChristine E Seidman

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Citations

Sep 23, 2014·Neuromuscular Disorders : NMD·Noemí de LunaTomàs Pinós
Aug 3, 2014·Molecular Genetics and Metabolism·Priya S KishnaniJoan Keutzer
Apr 14, 2016·Clinical Child and Family Psychology Review·Brittany L MathewsKathryn A Kerns
Aug 4, 2020·Aging·Simona TavernaGiovanni Duro
Jan 24, 2019·Environmental Science and Pollution Research International·Shagnika DasJiang-Shiou Hwang

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