Regional variation of thigh muscle fat infiltration in patients with neuromuscular diseases compared to healthy controls

Quantitative Imaging in Medicine and Surgery

article

Tobias Greve¹  Stephanie Inhuber³  Maximilian Löffler¹  Federica Montagnese⁴  Marcus Deschauer⁵  Benedikt Schoser⁴  Sarah Bublitz⁵  Claus Zimmer¹  Dimitrios C. Karampinos⁶  Jan S. Kirschke¹  Thomas Baum¹  Egon Burian¹  Agnes Zoffl¹  Georg Feuerriegel⁶  Sarah Schlaeger¹  Michael Dieckmeyer¹  Nico Sollmann¹  Elisabeth Klupp¹  Dominik Weidlich⁶ 

[1] Department of Diagnostic and Interventional Neuroradiology, Technical University of Munich;Department of Neurosurgery, University Hospital;Department of Sports and Health Sciences, Technical University of Munich;Friedrich Baur Institute at the Department of Neurology, University Hospital;Department of Neurology, Technical University of Munich;Department of Diagnostic and Interventional Radiology, Technical University of Munich

关键词: Water-fat magnetic resonance imaging (water-fat MRI);    proton density fat fraction (PDFF);    neuromuscular disease (NMD);    limb-girdle muscular dystrophy type 2A (LGMD2A);    late-onset Pompe disease (LOPD);    myotonic dystrophy type 2 (DM2);   

DOI  :  10.21037/qims-20-1098

学科分类：外科医学

来源: AME Publications

【 摘 要 】

Background: Chemical shift encoding-based water-fat magnetic resonance imaging (CSE-MRI) measures a quantitative biomarker: the proton density fat fraction (PDFF). The aim was to assess regional and proximo-distal PDFF variations at the thigh in patients with myotonic dystrophy type 2 (DM2), limb-girdle muscular dystrophy type 2A (LGMD2A), and late-onset Pompe disease (LOPD) as compared to healthy controls. Methods: Seven patients (n=2 DM2, n=2 LGMD2A, n=3 LOPD) and 20 controls were recruited. A 3D-spoiled gradient echo sequence was used to scan the thigh musculature. Muscles were manually segmented to generate mean muscle PDFF. Results: In all three disease entities, there was an increase in muscle fat replacement compared to healthy controls. However, within each disease group, there were patients with a shorter time since symptom onset that only showed mild PDFF elevation (range, 10% to 20%) compared to controls (P≤0.05), whereas patients with a longer period since symptom onset showed a more severe grade of fat replacement with a range of 50% to 70% (P<0.01). Increased PDFF of around 5% was observed for vastus medialis, semimembranosus and gracilis muscles in advanced compared to early DM2. LGMD2A_1 showed an early disease stage with predominantly mild PDFF elevations over all muscles and levels (10.9%±7.1%) compared to controls. The quadriceps, gracilis and biceps femoris muscles showed the highest difference between LGMD2A_1 with 5 years since symptom onset (average PDFF 11.1%±6.9%) compared to LGMD2A_2 with 32 years since symptom onset (average PDFF 66.3%±6.3%). For LOPD patients, overall PDFF elevations were observed in all major hip flexors and extensors (range, 25.8% to 30.8%) compared to controls (range, 1.7% to 2.3%, P<0.05). Proximal-to-distal PDFF highly varied within and between diseases and within controls. The intra-reader reliability was high (reproducibility coefficient ≤2.19%). Conclusions: By quantitatively measuring muscle fat infiltration at the thigh, we identified candidate muscles for disease monitoring due to their gradual PDFF elevation with longer disease duration. Regional variation between proximal, central, and distal muscle PDFF was high and is important to consider when performing longitudinal MRI follow-ups in the clinical setting or in longitudinal studies.

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