Cholesteryl Ester Storage Disease: Causes, Symptoms, Treatment

What Is Cholesteryl Ester Storage Disease?

Cholesteryl Ester Storage Disease is quite an uncommon disease condition which causes atherosclerosis and severe liver dysfunction to include cirrhosis. Since Cholesteryl Ester Storage Disease is very rare hence it is often at times overlooked at the time of diagnosis. Previously, as there was no treatment for this condition there was little that could be done for this diagnosis; however, with continuous research and development in the field of medicine there is definite treatment available for Cholesteryl Ester Storage Disease and hence now it becomes important to diagnose this condition in its early phase so as to prevent treatable conditions from becoming complicated.

Cholesteryl Ester Storage Disease

What Is The Cause of Cholesteryl Ester Storage Disease?

Cholesteryl Ester Storage Disease is caused due to absolute or partial deficiency of lysosomal acid lipase encoded by LIPA gene. This disease is characterized by hepatic fibrosis, hyperlipidemia and accelerated atherosclerosis. Cholesteryl Ester Storage Disease usually presents itself in early childhood.

How Is Cholesteryl Ester Storage Disease Diagnosed?

In order to diagnose Cholesteryl Ester Storage Disease, there are a few indicators which may point to its diagnosis and hence it is important to identify them:

Laboratory test will show below normal HDL levels, abnormal liver function tests. Physical examination shows presence of severe hepatomegaly and lymphadenopathy. Some of the other physical features that are suggestive of Cholesteryl Ester Storage Disease are:

  • Short stature
  • Early onset cardiac defects
  • Stroke.

Since Cholesteryl Ester Storage Disease is a relatively uncommon disease hence it is quite difficult to diagnose it, but new research suggests use of genetic testing in diagnosing this disease in its early state. In some cases symptoms of Cholesteryl Ester Storage Disease may be misinterpreted as the following disease conditions:

Apart from the above indicators an enzyme assay may be done to confirm the diagnosis of Cholesteryl Ester Storage Disease.

What Are The Treatments For Cholesteryl Ester Storage Disease?

As of now, the best way to treat Cholesteryl Ester Storage Disease successfully has been Hematopoietic Cell Transplantation by utilizing bone marrow transplantation. In some cases studies suggest that this disease has been treated with administration of lovastatin, which resulted in significant resolution of hepatomegaly in the patient, but the precise effect of this treatment is still under study. Studies suggest that administration of lovastatin significantly reduces hepatic lipid content but it does not normalize it. Studies also suggest administration of other medications like combination of Simvastatin and Cholestyramine. This treatment is shown to increase HDL cholesterol which is useful in decreasing cardiovascular risks in a patient even though the risk of having liver dysfunction stays as is. Thus, apart from medication administration other treatments in addition are also required for treatment of Cholesteryl Ester Storage Disease. Extreme cases of Cholesteryl Ester Storage Disease have required liver transplantation.

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:April 2, 2019

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