Lecithin cholesterol acyltransferase deficiency

Lipid Disorders Main Page
Overview
Causes
Classification Abetalipoproteinemia Hypobetalipoproteinemia Familial hypoalphalipoproteinemia LCAT Deficiency Chylomicron retention disease Tangier disease Familial combined hypolipidemia
Differential Diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Aravind Kuchkuntla, M.B.B.S[2] Synonyms and keywords: LCAT deficiency, dyslipoproteinemic corneal dystrophy, fish eye disease, Norum disease, partial LCAT deficiency

Historical Perspective

• In 1967, Norum and Gjone described the disease for the first time in a patient from Norway with features of normochromic anemia, protienuria and corneal lipid deposits.
• In 1967, Norum and Gjone reported that two sisters of the affected patient had similar presentation along with low levels of cholesterol esters and lysolecithin in the serum, with increased total body cholesterol, triglyceride and phospholipid. Foam cells in the bone marrow and glomerulus were demonstrated on microscopy. Patients had absent hepatomegaly and normal tonsils differentiating it from liver disease causing the defect of esterification and Tangier disease.

Pathophysiology

Genetics

• Autosomal Recessive
• Obligate Heterozygous patients have normal LCAT levels.