What Is Cholesteryl Ester Storage Disease?
Cholesteryl Ester Storage Disease is quite an uncommon disease condition which causesatherosclerosisand grave liver disfunction to admit cirrhosis . Since Cholesteryl Ester Storage Disease is very rare hence it is often at time overlooked at the sentence of diagnosing . Previously , as there was no treatment for this condition there was piddling that could be done for this diagnosis ; however , with uninterrupted inquiry and development in the arena of medicinal drug there is definite treatment available for Cholesteryl Ester Storage Disease and hence now it becomes crucial to name this condition in its early phase so as to foreclose treatable weather from becoming complicated .
What Is The Cause of Cholesteryl Ester Storage Disease?
Cholesteryl Ester Storage Disease is caused due to rank or fond deficiency of lysosomal acid lipase encode by LIPA gene . This disease is characterized by hepatic fibrosis , hyperlipidaemia and accelerated atherosclerosis . Cholesteryl Ester Storage Disease normally present itself in early puerility .
How Is Cholesteryl Ester Storage Disease Diagnosed?
for diagnose Cholesteryl Ester Storage Disease , there are a few indicators which may point to its diagnosis and hence it is important to key out them :
Laboratory test will show below normal HDL levels , abnormal liver function tests . Physical examination shows front of stark hepatomegaly and lymphadenopathy . Some of the other physical feature film that are suggestive of Cholesteryl Ester Storage Disease are :
Since Cholesteryl Ester Storage Disease is a relatively uncommon disease hence it is quite unmanageable to diagnose it , but new research indicate purpose of hereditary testing in diagnose this disease in its early state of matter . In some subject symptom of Cholesteryl Ester Storage Disease may be misinterpreted as the following disease weather condition :
Apart from the above indicator 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 vegetable marrow transplant . In some cases studies suggest that this disease has been treated with judicature of lovastatin , which resulted in significant resolution of hepatomegaly in the patient , but the exact effect of this handling is still under study . Studies suggest that administration of lovastatin importantly reduces hepatic lipid subject but it does not normalize it . Studies also suggest administration of other medicament like compounding of Simvastatin and Cholestyramine . This discussion is shown to increase HDL cholesterol which is useful in decreasing cardiovascular risks in a patient role even though the risk of have liver disfunction corset as is . Thus , asunder from medicament organization other discussion in addition are also ask for treatment of Cholesteryl Ester Storage Disease . Extreme cases of Cholesteryl Ester Storage Disease have required liver transplantation .
