LCAT deficiency and pregnancy: Case report.

Area of Science:

• Lipid Metabolism
• Genetics
• Obstetrics

Background:

• Lecithin-cholesterol acyltransferase (LCAT) deficiency is a rare autosomal recessive disorder impacting lipid metabolism.
• Prevalence is less than 1:1,000,000, making it a significant diagnostic challenge.

Observation:

• A 29-year-old pregnant woman with LCAT deficiency experienced recurrent hypertriglyceridemia-induced pancreatitis and nephrotic-range proteinuria.
• Fetal ultrasounds indicated progressive fetal growth restriction (FGR) during the second and third trimesters.

Findings:

• The patient underwent an elective cesarean section at 33 weeks gestation.
• A healthy neonate was delivered, despite the maternal condition.

Implications:

• This case highlights the complex interplay between LCAT deficiency and pregnancy.
• Understanding the natural history of LCAT deficiency during gestation is crucial for optimizing patient and fetal outcomes.
• Findings can inform future management strategies for pregnant individuals with LCAT deficiency.