Disease Information for Cholesteryl ester storage disease

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Clinical Manifestations
Signs & Symptoms
Hepatosplenomegaly
Palpable Liver/Hepatomegaly
Bilateral Calf Pains
Leg cramps/muscle spasm/pains
Splenomegaly
Clinical Presentation & Variations
Presentation/Arteriosclerosis Young Age
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Microbiology & Serology Findings
Serum specific antibodies increased
Abnormal Lab Findings - Increased
ApoA-I lipoprotein Level (Lab)
ASOT/Anti-streptolysin-O titer (Lab)
Cholesterol (Lab)
LDL (Low density lipoprotein) (Lab)
Diagnostic Test Results
Pathology
BX/Liver biopsy/Diagnostic
Associated Diseases & Rule outs
Associated Disease & Complications
Angina pectoris
Arteriosclerosis
Arteriosclerotic heart disease
Cirrhosis
Hyperbetalipoproteinemia status
Myocardial infarction, acute
Disease Mechanism & Classification
Class
CLASS/Reticuloendothelial system (RES) disorder (ex)
Pathophysiology
Pathophysiology/Deficiency cholesteryl ester hydrolase
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Lipid metabolism defect
Pathophysiology/Lysosomal cholesteryl ester/storage
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Lipidosis/storage disorder (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Storage disorder (ex)
Treatment
Drug Therapy - Indication
RX/HMG-coA reductase
RX/Lovastatin (Mevacor)
RX/Statins
Definition

A rare benign adult form of inherited lysosomal lipid storage disease that is due to deficiency of acid lipase. It results in an accumulation of neutral lipids, particularly cholesterol esters, within cells (particularly leukocytes, fibroblasts, and liver cells). It is an allelic variant of WOLMAN DISEASE.

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External Links Related to Cholesteryl ester storage disease
Google
Wikipedia
Merck
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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