Vacuolated PAS-Positive Lymphocytes on Blood Smear: An Easy Screening Tool and a Possible Biomarker for Monitoring Therapeutic Responses in Late Onset Pompe Disease (LOPD)

Parisi, Daniela; Musumeci, Olimpia; Mondello, Stefania; Brizzi, Teresa; Oteri, Rosaria; Migliorato, Alba; Ciranni, A.; Mongini, Tiziana; Rodolico, Carmelo; Vita, Giuseppe; Toscano, Antonio

doi:10.3389/fneur.2018.00880

Cited by 9 publications

(9 citation statements)

References 25 publications

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“…It has been demonstrated that assessing vacuolated lymphocytes in a blood smear is a potent marker in diagnosing autophagic myopathies ( 34 ). It can be considered a possible biomarker, and some authorities advise ordering blood smear examination to be performed even before GAA assay in DBS ( 35 ). Blood smear examination results need to be established by the finding of enzyme deficiency ± genetic analysis.…”

Section: Clinical Presentation and Diagnosismentioning

confidence: 99%

Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus

et al. 2021

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Background: Pompe disease, also denoted as acid maltase or acid α-glucosidase deficiency or glycogen storage disease type II, is a rare, autosomal recessive lysosomal storage disorder. Several reports have previously described Pompe disease in Iran and considering increased awareness of related subspecialties and physicians, the disease's diagnosis is growing.Objective: This guideline's main objective was to develop a national guideline for Pompe disease based on national and international evidence adapting with national necessities.Methods: A group of expert clinicians with particular interests and experience in diagnosing and managing Pompe disease participated in developing this guideline. This group included adult neurologists, pediatric neurologists, pulmonologists, endocrinologists, cardiologists, pathologists, and physiatrists. After developing search terms, four authors performed an extensive literature review, including Embase, PubMed, and Google Scholar, from 1932 to current publications before the main meeting. Before the main consensus session, each panel member prepared an initial draft according to pertinent data in diagnosis and management and was presented in the panel discussion. Primary algorithms for the diagnosis and management of patients were prepared in the panel discussion. The prepared consensus was finalized after agreement and concordance between the panel members.Conclusion: Herein, we attempted to develop a consensus based on Iran's local requirements. The authors hope that disseminating these consensuses will help healthcare professionals in Iran achieve the diagnosis, suitable treatment, and better follow-up of patients with infantile-onset Pompe disease and late-onset Pompe disease.

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Section: Clinical Presentation and Diagnosismentioning

confidence: 99%

Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus

et al. 2021

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“…The number of PASpositive lymphocytes in treated and untreated patients is quite different; although a small number of patients were studied, the difference was significant, suggesting that quantification of vacuolated lymphocytes on BSE can be considered a possible biomarker in therapeutic trials. These data suggest that BSE could be performed as a blood-based method in screening programs even before GAA assay in DBS which is a more sophisticated technique and not available in all diagnostic laboratories (19). However, BSE results need to be confirmed by the detection of enzyme deficiency and/or genetic analysis.…”

Section: Quantification Of Lymphocytes With Glycogen-filled Vacuoles mentioning

confidence: 99%

“…Detection of lymphocytes with vacuoles filled with glycogen in the blood smear (BSE; blood smear examination) has been suggested as a useful tool for Pompe diagnosis (16)(17)(18)(19).…”

Section: Introductionmentioning

confidence: 99%

Diagnostic tools in late onset Pompe disease (LOPD)

Musumeci¹,

Toscano²

2019

Ann. Transl. Med

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Pompe disease is a rare metabolic disorder due to deficiency of the lysosomal acid alphaglucosidase (GAA) that causes glycogen accumulation in all tissues with a predominant involvement of skeletal muscle. The late onset form of Pompe disease (LOPD) is characterized by a progressive weakness of proximal and axial muscles, often mimicking limb-girdle muscular dystrophies or inflammatory myopathies, with respiratory distress mainly due to a diaphragmatic weakness. Diagnostic delay is still common, and clinicians need a high index of suspicion to recognize this condition because the disorder is quite rare, the clinical spectrum is wide, and signs and symptoms are not distinguishable from those in other neuromuscular disorders that present in a similar fashion. Diagnostic laboratory tests are quite fast and reliable to detect the enzymatic deficiency. Enzyme replacement therapy has been available for several years, and other new therapeutic strategies such as gene therapy are underway. Here, we discuss the main diagnostic tools currently used for the evaluation of patients with suspected LOPD.

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“…Double GAA pathogenic mutations represent the final diagnostic confirmation of GSDII. Although muscle biopsy remains an important tool in the evaluation of muscle disorders, including GSDII, counting of vacuolated Periodic Acid-Schiff (PAS)-positive lymphocytes in blood smears has been proposed as a fast screening test to identify LO-GSDII, as well as for monitoring the efficacy of enzyme replacement therapy (ERT) treatment with recombinant human α-glucosidase (rGAA) [8,10]. We recently proposed an algorithm for the diagnosis of myopathies related to impaired autophagy.…”

Section: Introductionmentioning

confidence: 99%