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Should patients with asymptomatic pompe disease be treated? A nationwide study in France.
Muscle Nerve. 2015 Jun; 51(6):884-9.MN

Abstract

INTRODUCTION

Acid α-glucosidase deficiency, that is, Pompe disease, is a glycogenosis for which enzyme replacement therapy (ERT) is available. It is not known whether patients diagnosed at an asymptomatic stage should be treated to prevent progression of the disease.

METHODS

We investigated 7 patients with asymptomatic Pompe disease identified from the French Pompe registry.

RESULTS

The patients had a mean age of 45 (range 24-75) years, a median follow-up duration of 2 (range 1-22) years, and normal clinical examination, pulmonary function tests (PFTs), and echocardiography. All presented with at least 1 subclinical abnormality, including hyperCKemia, vacuolar myopathy, and muscle MRI abnormalities, suggesting that subclinical myopathy was present in all cases.

CONCLUSIONS

Asymptomatic Pompe disease may remain clinically silent for decades, and affected patients should be monitored closely for overt myopathy using clinical examination, PFTs, and muscle MRI to determine when to start ERT.

Authors+Show Affiliations

Centre de Référence des Maladies Neuromusculaires, Département de Neurologie, Hôpital de Hautepierre 1, Avenue Molière, 67098, Strasbourg, France.Assistance Publique-Hôpitaux de Paris (APHP), Service d'imagerie médicale, CIC-IT handicap, Hôpital Poincaré, Garches, France.Centre de Référence Neuromusculaire Paris-Est, Hôpital Pitié-Salpêtrière, and U974, Université Pierre et Marie Curie, Paris, France.Centre de Référence Neuromusculaire Paris-Est, Hôpital Pitié-Salpêtrière, and U974, Université Pierre et Marie Curie, Paris, France.Centre de Référence des Maladies Neuromusculaires, Aix-Marseille Université, APHP, Marseille, France.Centre de Référence des Maladies Neuromusculaires, Aix-Marseille Université, APHP, Marseille, France.Centre de Référence Neuromusculaire Paris-Est, Hôpital Pitié-Salpêtrière, and U974, Université Pierre et Marie Curie, Paris, France.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

25786784

Citation

Echaniz-Laguna, Andoni, et al. "Should Patients With Asymptomatic Pompe Disease Be Treated? a Nationwide Study in France." Muscle & Nerve, vol. 51, no. 6, 2015, pp. 884-9.
Echaniz-Laguna A, Carlier RY, Laloui K, et al. Should patients with asymptomatic pompe disease be treated? A nationwide study in France. Muscle Nerve. 2015;51(6):884-9.
Echaniz-Laguna, A., Carlier, R. Y., Laloui, K., Carlier, P., Salort-Campana, E., Pouget, J., & Laforet, P. (2015). Should patients with asymptomatic pompe disease be treated? A nationwide study in France. Muscle & Nerve, 51(6), 884-9. https://doi.org/10.1002/mus.24653
Echaniz-Laguna A, et al. Should Patients With Asymptomatic Pompe Disease Be Treated? a Nationwide Study in France. Muscle Nerve. 2015;51(6):884-9. PubMed PMID: 25786784.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Should patients with asymptomatic pompe disease be treated? A nationwide study in France. AU - Echaniz-Laguna,Andoni, AU - Carlier,Robert-Yves, AU - Laloui,Kenza, AU - Carlier,Pierre, AU - Salort-Campana,Emmanuelle, AU - Pouget,Jean, AU - Laforet,Pascal, Y1 - 2015/04/02/ PY - 2014/09/11/received PY - 2015/01/24/revised PY - 2015/03/10/accepted PY - 2015/3/20/entrez PY - 2015/3/20/pubmed PY - 2015/7/28/medline KW - Pompe disease KW - asymptomatic KW - enzyme replacement therapy KW - late-onset KW - myopathy KW - whole-body muscle MRI SP - 884 EP - 9 JF - Muscle & nerve JO - Muscle Nerve VL - 51 IS - 6 N2 - INTRODUCTION: Acid α-glucosidase deficiency, that is, Pompe disease, is a glycogenosis for which enzyme replacement therapy (ERT) is available. It is not known whether patients diagnosed at an asymptomatic stage should be treated to prevent progression of the disease. METHODS: We investigated 7 patients with asymptomatic Pompe disease identified from the French Pompe registry. RESULTS: The patients had a mean age of 45 (range 24-75) years, a median follow-up duration of 2 (range 1-22) years, and normal clinical examination, pulmonary function tests (PFTs), and echocardiography. All presented with at least 1 subclinical abnormality, including hyperCKemia, vacuolar myopathy, and muscle MRI abnormalities, suggesting that subclinical myopathy was present in all cases. CONCLUSIONS: Asymptomatic Pompe disease may remain clinically silent for decades, and affected patients should be monitored closely for overt myopathy using clinical examination, PFTs, and muscle MRI to determine when to start ERT. SN - 1097-4598 UR - https://www.unboundmedicine.com/medline/citation/25786784/Should_patients_with_asymptomatic_pompe_disease_be_treated_A_nationwide_study_in_France_ L2 - https://doi.org/10.1002/mus.24653 DB - PRIME DP - Unbound Medicine ER -