Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.

@article{Bernstein2013CholesterylES,
  title={Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.},
  author={Donna Lee Bernstein and Helena H{\"u}lkova and Martin G. Bialer and Robert J Desnick},
  journal={Journal of hepatology},
  year={2013},
  volume={58 6},
  pages={
          1230-43
        }
}
Cholesteryl ester storage disease (CESD) is caused by deficient lysosomal acid lipase (LAL) activity, predominantly resulting in cholesteryl ester (CE) accumulation, particularly in the liver, spleen, and macrophages throughout the body. The disease is characterized by microvesicular steatosis leading to liver failure, accelerated atherosclerosis and premature demise. Although CESD is rare, it is likely that many patients are unrecognized or misdiagnosed. Here, the findings in 135 CESD patients… CONTINUE READING
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