Two cases with transient lipoprotein lipase (LPL) activity impairment: evidence for the possible involvement of an LPL inhibitor

• Published in: European journal of pediatrics Vol. 162; no. 3; pp. 132 - 138
• Main Authors: NAGASAKA, H, KIKUTA, H, SHIRAI, K, KOBAYASHI, K, CHIBA, H, MURANO, T, HARASHIMA, H, OHTAKE, A, SENZAKI, H, SASAKI, N, INOUE, I, KATAYAMA, S
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01-03-2003; Berlin Springer Nature B.V
• Subjects: Biological and medical sciences; Child; Child, Preschool; Cholesterol, HDL - blood; Disorders of blood lipids. Hyperlipoproteinemia; Female; Humans; Hyperlipoproteinemia Type V - blood; Hyperlipoproteinemia Type V - diagnosis; Hyperlipoproteinemia Type V - genetics; Hyperlipoproteinemia Type V - physiopathology; Lipoprotein Lipase - antagonists & inhibitors; Lipoprotein Lipase - genetics; Lipoprotein Lipase - metabolism; Medical sciences; Metabolic diseases; Pregnancy disorders; Cholesterolemia; Lipids; Esterases; Hyperlipoproteinemia; Lipoprotein lipase; Enzymopathy; Cholesterol HDL; Etiology; Lipoprotein lipase inhibitor; Dyslipemia; Child; Human; High-density lipoprotein (HDL) cholesterol; Enzyme; Deficiency; Low birth weight; Enzyme inhibitor; Metabolic diseases; Transitory; Carboxylic ester hydrolases; Case study; Newborn diseases; Prematurity; Hypertriglyceridemia; Hydrolases
• ISSN: 0340-6199; 1432-1076
• DOI: 10.1007/s00431-002-1133-3

Two independent severe hypertriglyceridemic infants with transiently impaired lipoprotein lipase (LPL) activity were observed and the causes were explored. Both infants were female, born prematurely with low birth weight and developed hypertriglyceridemia (Fredrickson type V hyperlipidemia: high VLDL and low LDL/HDL) a few months after birth. While mass levels of their post-heparin plasma LPL and apoprotein C-II (apo C-II), a physiological activator of LPL, were normal, their post-heparin plasma LPL activities were remarkably impaired. Both of their mothers' post-heparin plasma LPL activities were slightly or moderately impaired as well, without a decrease in the LPL mass level. No mutations in the genes for LPL and apo C-II were detected in either patient. In an in vitro study with their serum at onset, we could not detect any distinct circulating inhibitors for LPL. There was no data supporting infection or autoimmune diseases, which might have an impact on LPL activity, during the follow-up period. Levels of their plasma triglyceride (TG) and total cholesterol (TC) were decreased quickly by a dietary intervention with medium-chain triglyceride (MCT) milk and kept normal even after stopping the intervention at around age 1 year. However, their low post-heparin LPL activity persisted and returned to normal at around age 2 years. Their low HDL cholesterol levels persisted even after recovery of the TG and TC levels, although lecithin:cholesterol acyltransferase (LCAT) and cholesterol-ester-transfer protein (CETP), two key enzymes of HDL metabolism, were normal throughout the course. The exact reasons why their post-heparin LPL activities were impaired for a certain period and why their HDL cholesterol levels have remained low are still unclear.
Transiently impaired LPL activity with no defect in LPL enzyme induced severe hypertriglyceridemia in infants. The transient occurrence of inhibitor(s) for LPL was proposed.