Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy
Robert D. Guber, BS*, Varun Takyar, MD*, Angela Kokkinis, BSN, RN, Derrick A. Fox, MD, Hawwa Alao, MD, Ilona Kats, BA, Dara Bakar, BA, Alan T. Remaley, MD, PhD, Stephen M. Hewitt, MD, PhD, David E. Kleiner, MD, PhD, Chia-Ying Liu, PhD, Colleen Hadigan, MD, Kenneth H. Fischbeck, MD, Yaron Rotman, MD and Christopher Grunseich, MD
Correspondence to Dr. Grunseich: christopher.grunseich{at}nih.gov
ABSTRACT
Objective: To determine the prevalence and features of fatty liver disease in spinal and bulbar muscular atrophy (SBMA).
Methods: Two groups of participants with SBMA were evaluated. In the first group, 22 participants with SBMA underwent laboratory analysis and liver imaging. In the second group, 14 participants with SBMA were compared to 13 female carriers and 23 controls. Liver biopsies were done in 4 participants with SBMA.
Results: Evidence of fatty liver disease was detected by magnetic resonance spectroscopy in all participants with SBMA in the first group, with an average dome intrahepatic triacylglycerol of 27% (range 6%–66%, ref ≤5.5%). Liver dome magnetic resonance spectroscopy measurements were significantly increased in participants with SBMA in the second group relative to age- and sex-matched controls, with average disease and male control measurements of 17% and 3%, respectively. Liver biopsies were consistent with simple steatosis in 2 participants and nonalcoholic steatohepatitis in 2 others.
Conclusions: We observed evidence of nonalcoholic liver disease in nearly all of the participants with SBMA evaluated. These observations expand the phenotypic spectrum of the disease and provide a potential biomarker that can be monitored in future studies.
Methods: Two groups of participants with SBMA were evaluated. In the first group, 22 participants with SBMA underwent laboratory analysis and liver imaging. In the second group, 14 participants with SBMA were compared to 13 female carriers and 23 controls. Liver biopsies were done in 4 participants with SBMA.
Results: Evidence of fatty liver disease was detected by magnetic resonance spectroscopy in all participants with SBMA in the first group, with an average dome intrahepatic triacylglycerol of 27% (range 6%–66%, ref ≤5.5%). Liver dome magnetic resonance spectroscopy measurements were significantly increased in participants with SBMA in the second group relative to age- and sex-matched controls, with average disease and male control measurements of 17% and 3%, respectively. Liver biopsies were consistent with simple steatosis in 2 participants and nonalcoholic steatohepatitis in 2 others.
Conclusions: We observed evidence of nonalcoholic liver disease in nearly all of the participants with SBMA evaluated. These observations expand the phenotypic spectrum of the disease and provide a potential biomarker that can be monitored in future studies.
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Thanks for sharing great information about the symptoms of fatty liver or liver fat. Some people ask What are symptoms of fatty liver? Fatty liver occurs when too much fat builds up in liver cells. Although it is normal to have a tiny amount of fat in these cells.
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