Lecithin Cholesterol Acyltransferase Deficiency

Overview

An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure.

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 Lecithin Cholesterol Acyltransferase Deficiency

Topic type

Condition

Category

General Healthcare

MeSH classification

C16.320.565.398.500.330.500|C18.452.584.500.875.330.500|C18.452.584.563.500.330.500|C18.452.648.398.500.330.500

Preparing for an appointment about Lecithin Cholesterol Acyltransferase Deficiency

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• 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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