Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients

• Published in: Muscle & nerve Vol. 65; no. 3; pp. 284 - 290
• Main Authors: Mori‐Yoshimura, Madoka, Kimura, Ayano, Tsuru, Ayumi, Yajima, Hiroyuki, Segawa, Kazuhiko, Mizuno, Katsuhiro, Oya, Yasushi, Noguchi, Satoru, Nishino, Ichizo, Takahashi, Yuji
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.03.2022; Wiley Subscription Services, Inc
• Subjects: Abnormalities; Apnea; Biomarkers; cardiac complication; Cardiomyopathy; Complications; Continuous positive airway pressure; Coronary artery disease; Distal Myopathies; Echocardiography; EKG; Electrocardiography; Epimerase; GNE myopathy; Heart diseases; Humans; IgG antibody; Immunoglobulin G; Multienzyme Complexes; Muscular Diseases - diagnosis; Myopathy; N-Acetylglucosamine; Platelets; platelet‐associated IgG; Sleep; Sleep apnea; sleep apnea syndrome; Sleep Apnea Syndromes - diagnosis; Sleep disorders; Thrombocytopenia; platelet-associated IgG; GNE myopathy; cardiac complication; thrombocytopenia; sleep apnea syndrome
• ISSN: 0148-639X; 1097-4598
• DOI: 10.1002/mus.27451

Introduction We previously identified UDP‐N‐acetylglucosamine 2‐epimerase (GNE) myopathy patients with sleep apnea and a past history of thrombocytopenia, but without disease‐specific cardiac involvement. This study aimed to clarify the occurrence, severity, and serial changes of these complications. Methods Thirty‐three genetically confirmed GNE myopathy patients who participated in a 5‐y longitudinal observational history study underwent platelet count and platelet‐associated immunoglobulin G (PA‐IgG) measurements, a sleep study, and electrocardiography (ECG), Holter ECG, and echocardiogram examinations. Results Among the 33 patients, three had low platelet counts and 17 out of 26 were PA‐IgG positive. No patient exhibited bleeding tendencies, and 3 out of 28 had low platelet counts. Muscle weakness was more pronounced, and summed MMT and grip power significantly lower, in PA‐IgG‐positive patients than in PA‐IgG‐negative patients. Of 19 patients, 7, 4, and 3 who underwent a sleep study had mild, moderate, and severe sleep apnea, respectively, and three started continuous positive airway pressure (CPAP). The respiratory disturbance index was not significantly correlated with physical evaluation items or forced vital capacity. All patients underwent ECG, 32 underwent cardiac ultrasound, and 25 underwent Holter ECG. No disease‐specific cardiac involvement was noted, no serial changes during the follow‐up period were observed for ECG and echocardiography, and none of the patients required therapy for cardiac abnormalities. Discussion PA‐IgG is a potential disease biomarker in GNE myopathy patients, although its significance needs to be clarified. While none of the patients in this study experienced cardiomyopathy or arrythmia due to myopathy, sleep apnea was identified as a frequent complication. See editorial on pages 263–265 in this issue.