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Disease Processes ▼
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Disease Information for Cholesteryl ester storage disease
- 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
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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.
(Edit)
- External Links Related to Cholesteryl ester storage disease
- Wikipedia
- Merck
- Images
- 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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© 2013 MedTech USA, Inc. (last modified on 05/19/13)
