Cholesterol Ester Storage Disease

Overview

An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Cholesterol Ester Storage Disease

Topic type

Condition

Category

General Healthcare

MeSH classification

C16.320.565.398.641.201|C16.320.565.595.201|C18.452.584.563.641.201|C18.452.648.398.641.201|C18.452.648.595.201

Preparing for an appointment about Cholesterol Ester Storage Disease

If you are speaking with a healthcare professional about Cholesterol Ester Storage Disease, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

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