Fatty Liver Disease Common in Spinal-Bulbar Muscular Atrophy

microscopic fatty liver
microscopic fatty liver
Because of the liver's prominent role in drug metabolism, clinicians should monitor patients' hepatic function.

Patients with spinal-bulbar muscular atrophy (SBMA) are at high risk for nonalcoholic liver disease as well as elevated glucose, serum triglycerides, and insulin, according to study findings published in Neurology.

The investigators of this study evaluated 2 groups of patients: patients with SBMA undergoing laboratory evaluation and liver imaging (n=22) and patients with SBMA (n=14) vs female carriers (n=13) and control patients (n=23). In addition, the researchers evaluated both liver and muscle fat by 1H magnetic resonance spectroscopy.

After magnetic resonance spectroscopy imaging in the first group, the investigators found evidence of fatty liver disease in all patients with SBMA. 

Among these participants, the mean dome intrahepatic triacylglycerol was 27% (range, 6%-66%; reference control value, ≤5.5%). In addition, those with SBMA in the second group had higher liver dome magnetic resonance spectroscopy measurements compared with age- and sex-matched control patients (17±14 vs 3±3 [male] and 2±2 [female]; P ≤.01).

The mean male and disease control measurements were 3% and 17%, respectively. Patients with SBMA also had significantly greater serum levels of alanine aminotransferase, aspartate aminotransferase, and creatinine kinase (P <.01). Compared with control patients, those with SBMA featured evidence of metabolic syndrome and insulin resistance. According to findings from liver biopsies, nonalcoholic steatohepatitis (n=2) and simple steatosis (n=2) were also found.

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Although the researchers indicate that previous research has demonstrated elevations of serum cholesterol in patients with SBMA, the small sample size of 14 in the second group limits the study’s detection power for this variable.

Because of the liver’s prominent role in drug metabolism, the investigators suggest healthcare practitioners “prescribing medications or evaluating candidate therapeutics for patients with SBMA should be aware of the risk for fatty liver disease and monitor hepatic function.”


Guber RD, Takyar V, Kokkinis A, et al. Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy. Neurology. 2017;89(24):2481-2490.