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LCAT deficiency and pregnancy: Case report.

Raul Leal-Gonzalez¹, Álvaro Ramos-Reyes¹, Mariana Moncada-Madrazo¹

¹Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo Leon, Mexico.

Obstetric Medicine

|October 14, 2021

Summary

Lecithin-cholesterol acyltransferase (LCAT) deficiency in pregnancy presents risks like pancreatitis and fetal growth restriction. Early delivery resulted in a healthy infant, offering insights for managing this rare lipid disorder.

Keywords:

LCAT deficiency case report fetal growth restriction pancreatitis pregnancy

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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.