Cholesteryl Ester Storage Disease - Frequently Asked Questions

dr. simi paknikar
Medically Reviewed by dr. simi paknikar, MD
Last Updated on Dec 11, 2019
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Frequently Asked Questions

1. Which doctor should I consult for cholesteryl ester storage disease?

One must consult a family physician who will recommend the necessary tests to diagnose the condition.

2. What are the other names for cholesteryl ester storage disease?

Cholesteryl ester storage disease is also referred to by the following names:
  • LIPA deficiency
  • LAL deficiency
  • Cholesterol ester hydrolase deficiency
  • Lysosomal acid lipase deficiency
  • Cholesterol ester storage disease
  • Acid cholesteryl ester hydrolase deficiency, type 2

3. What are the new forms of therapy that are being researched for CESD?

Gene therapy is being studied in which a functional gene can be introduced to produce a functional lysosomal acid lipase enzyme. This functional enzyme can compensate for the mutated enzyme that is present in CESD patients. Enzyme replacement therapy is also being explored for the treatment of CESD.

4. What are the diseases that display similar symptoms as CESD?

Niemann-Pick disease, Chanarin Dorfman syndrome, Wolman disease, fructose intolerance, and galactosemia are some of the diseases that have similar symptoms of fat accumulation as CESD. Therefore, these conditions should be differentiated carefully from CESD.

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