Familial Lecithin Cholesterol Acyl Transferase Deficiency with Chronic Kidney Disease

Area of Science:

• Biochemistry
• Genetics
• Nephrology

Background:

• Familial lecithin-cholesterol acyltransferase (LCAT) deficiency is a rare autosomal recessive disorder.
• LCAT enzyme is crucial for cholesterol esterification in high-density lipoprotein (HDL) and low-density lipoprotein (LDL) particles.

Observation:

• A 34-year-old female presented with hypertension, nephrotic proteinuria, renal failure, corneal opacities, anemia, and dyslipidemia.
• Clinical examination revealed characteristic corneal ring opacities and dyslipidemia.

Findings:

• Diagnosis of familial LCAT deficiency was confirmed by undetectable plasma LCAT levels.
• A positive family history supported the genetic basis of the condition.

Implications:

• This case underscores the importance of recognizing the clinical manifestations of familial LCAT deficiency.
• Early diagnosis and management are crucial for patients with this rare genetic lipid disorder.