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Published on: September 15, 2018
Familial lecithin-cholesterol acyltransferase deficiency
Isa Jahanzad1, Sakineh Amoueian, Armin Attaranzadeh
1Department of Pathology, Tehran University of Medical Sciences, Tehran, Iran.
Archives of Iranian Medicine
|March 3, 2009
Summary
Familial lecithin-cholesterol acyltransferase deficiency, a rare genetic disorder, was identified in an Iranian woman. Diagnosis involved low HDL cholesterol, reduced enzyme activity, and characteristic kidney biopsy findings.
Area of Science:
- Biochemistry
- Genetics
- Nephrology
Background:
- Familial lecithin-cholesterol acyltransferase deficiency (LCATD) is a rare autosomal recessive disorder.
- It stems from a genetic defect in plasma cholesterol esterification.
- LCATD was first described in Norway in 1968.
Observation:
- A 38-year-old woman presented with edema, proteinuria, corneal opacities, hypercholesterolemia, and hemolytic anemia.
- Renal biopsy showed mesangial expansion, capillary wall widening, and foamy cells.
- Electron microscopy revealed lipid deposition in the glomerular basement membrane and mesangium.
Findings:
- This case represents the first documented instance of LCATD in Iran.
- Diagnosis was confirmed by low high-density lipoprotein cholesterol levels.
- Decreased plasma lecithin-cholesterol acyltransferase activity and a positive family history supported the diagnosis.
Implications:
- Highlights the importance of recognizing LCATD in diverse populations.
- Emphasizes the role of renal biopsy and electron microscopy in diagnosis.
- Contributes to understanding the global prevalence and clinical spectrum of LCATD.
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