Hereditary Lecithin–Cholesterol Acyltransferase Deficiency: Case Report of a German Patient

1987 ◽  
Vol 88 (4) ◽  
pp. 510-516 ◽  
Author(s):  
Paul Weber ◽  
James S. Owen ◽  
Kalpna Desai ◽  
Michael R. Clemens
Keyword(s):  
Case Report ◽  
Cholesterol Acyltransferase ◽  
Lecithin Cholesterol Acyltransferase ◽  
German Patient

Immune-mediated acquired lecithin-cholesterol acyltransferase deficiency: A case report and literature review

2018 ◽  
Vol 12 (4) ◽  
pp. 888-897.e2 ◽  
Author(s):  
Ryoichi Ishibashi ◽  
Minoru Takemoto ◽  
Yuya Tsurutani ◽  
Masayuki Kuroda ◽  
Makoto Ogawa ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Cholesterol Acyltransferase ◽  
Lecithin Cholesterol Acyltransferase ◽  
Immune Mediated

LCAT deficiency and pregnancy: Case report

2020 ◽  
pp. 1753495X2095057
Author(s):  
Raul Leal-Gonzalez ◽  
Álvaro Ramos-Reyes ◽  
Mariana Moncada-Madrazo ◽  
Irasema Apodaca-Ramos ◽  
Kimberly L Morales-Palomino ◽  
...  
Keyword(s):  
Case Report ◽  
Fetal Growth ◽  
Elective Caesarean Section ◽  
Cholesterol Acyltransferase ◽  
Third Trimester ◽  
Lecithin Cholesterol Acyltransferase ◽  
History Of ◽  
Autosomal Recessive Condition ◽  
Lcat Deficiency ◽  
Future Patient

Lecithin-cholesterol acyltransferase (LCAT) deficiency is a rare autosomal recessive condition affecting lipid metabolism with a prevalence of less than 1:1,000,000. Described here is the case of a 29-year-old pregnant woman with a diagnosis of LCAT deficiency (c.140G>A in exon 4), who had three episodes of hypertriglyceridemia-induced pancreatitis and nephrotic-range proteinuria throughout the pregnancy. Furthermore, fetal ultrasounds carried out during the second and third trimester revealed a steady reduction in fetal growth rate, and fetal growth restriction (FGR) was diagnosed. The woman underwent an elective caesarean section at 33 weeks of gestation and delivered a healthy neonate. This case report adds knowledge of the natural history of LCAT deficiency during pregnancy and will be useful in future patient management.

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