Cholesteryl ester storage disease
From Wikidoc - Reading time: 2 min
| Cholesteryl ester storage disease | |
| ICD-10 | E75.5 |
|---|---|
| ICD-9 | 272.7 |
| OMIM | 278000 |
| DiseasesDB | 31220 |
| MeSH | D015217 |
Cholesteryl ester storage disease is an extremely rare disorder that results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue. Like Wolman disease, it is a type of acid lipase deficiency. Children develop an enlarged liver leading to cirrhosis and chronic liver failure before adulthood. Children may also have calcium deposits in the adrenal glands and may develop jaundice late in the disorder.
There is no specific treatment for cholesteryl ester storage disease.
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