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| cholesteryl ester storage disease ： ウィキペディア英語版 |
cholesteryl ester storage disease
Cholesteryl ester storage disease (CESD) is the late onset phenotype for lysosomal acid lipase deficiency, a Lysosomal storage disease, which also has an early onset phenotype known as Wolman disease that primarily affects infants. CESD can present in childhood but often goes unrecognized until adulthood when the underlying pathology is advanced. Many of the signs and symptoms are common to patients with other liver conditions.
CESD is an autosomal recessive genetic condition and is characterized by hepatomegaly, persistently abnormal LFTs and type II hyperlipidemia. Splenomegaly and evidence of mild hypersplenism may affect some patients. Untreated, CESD may lead to fibrosis, cirrhosis, liver failure and death.
Disease Risk In Families:
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