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Familial lecithin: cholesterol acyltransferase (LCAT) deficiency. An updated review Spring 1988
1Medical Department, University Hospital Rikshospitalet, Norway.
Ophthalmic Paediatrics and Genetics
|November 1, 1988
Summary
Familial lecithin:cholesterol acyltransferase (LCAT) deficiency is a genetic disorder affecting lipid metabolism, characterized by corneal opacities and potential kidney failure. Early diagnosis is aided by characteristic corneal changes and abnormal lipoprotein profiles.
Area of Science:
- Biochemistry
- Genetics
- Ophthalmology
- Nephrology
Background:
- Familial lecithin:cholesterol acyltransferase (LCAT) deficiency is a rare inherited metabolic disorder.
- The enzymatic defect and chromosomal localization (16q22) are understood, with 50 patients identified globally.
- Characteristic corneal opacities, anemia, proteinuria, and abnormal lipoproteins are key features.
Purpose of the Study:
- To summarize the current understanding of familial LCAT deficiency.
- To highlight diagnostic features, particularly corneal opacities.
- To discuss clinical manifestations including renal insufficiency and potential treatments.
Main Methods:
- Clinical observation and diagnosis of affected patients.
- Biochemical analysis of plasma lipoproteins and corneal tissue.
- Genetic localization to chromosome 16q22.
Main Results:
- All patients exhibit characteristic corneal opacities, appearing early in life.
- Excess unesterified cholesterol and phospholipid found in corneas.
- Abnormal lipoprotein profiles with elevated free cholesterol are consistently observed.
- Renal insufficiency is a common complication in adulthood, potentially requiring kidney transplantation.
Conclusions:
- Familial LCAT deficiency is a well-defined disorder with distinct clinical and biochemical markers.
- Corneal opacities serve as a crucial diagnostic indicator.
- Management may involve addressing renal complications, including transplantation.
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