Postheparin plasma lipoprotein lipase activity in heterozygotes of familial lipoprotein lipase deficiency.

Abstract

Serum lipoprotein pattern, apoproteins and two postheparin triglyceride lipases were analyzed in a patient with familial lipoprotein lipase (LPL) deficiency and her family. Serum of the patient showed extreme hyperchylomicronemia and her postheparin plasma LPL activity was distinctly decreased. None of heterozygotes had any type of hyperlipoproteinemia. The mother and brother of the patient had moderately decreased LPL activity. There were no consistent changes in hepatic triglyceride lipase (H-TGL) activity among heterozygotes. These results suggest that assay of LPL may be helpful for detection of heterozygotes in familial LPL deficiency.lipoprotein lipase deficiency ; hyperlipoproteinemia ; apoprotein C-II ; chylomicronemia Type I familial hyperlipoproteinemia is a rare disease associated with marked hyperchylomicronemia and normal very low density lipoproteins (VLDL) in plasma. Among several subtypes the most common cause of this disease is thought to be lipoprotein lipase (LPL) deficiency.The purpose of this communication is to report a case of primary LPL deficiency in a female infant, whose chylemia was detected at the age of 5 days, and to investigate the serum lipoprotein pattern and LPL activity in the family members. CASE REPORTThe patient, who was born without particular accident during perinatal period, visited an obstetrician for the routine screening of congenital metabolic disorders and for evaluation of jaundice at the age of 5 days. Her parents are healthy and they are first cousins (her grandmothers are sisters). Her 3-year-old

La deficience en lipoproteine lipase chez les canadiens francais

“…L'affection débute dans 50% des cas avant l'âge de deux ans et en règle générale avant 10 ans (Guyot et al1986;Ménage et De Gennes 1971). Le plus jeune malade à avoir été diagnostiqué est probablement un enfant de cinq jours (Kondo et al 1985). Les sujets atteints de ce désordre familial se situent à l'intérieur d'une grande catégorie d'âge (1 semaine à 54 ans), ce qui indique que cette maladie n'est pas restreinte à la population en âge pédiatrique Sadan et al 1977;Hoeg et al 1983; ).…”

Apolipoprotein E phenotypes of normo- and hyperlipoproteinemia in Japanese.

“…Seventy-five HLP were selected from those patients routinely came to see in our lipid clinic between April, 1983 and March, 1985. A patient with type I has been demonstrated to have lipoprotein lipase deficiency (Kondo et al 1985). The other types of hyperlipoproteinemia were decided by agarose gel elecrtophoresis and lipid levels of both very low density lipoprotein triglyceride (VLDL-TG> 100 mg 100 ml) and low density lipoprotein cholesterol (LDL-C> 150 mg 100 ml) which were isolated by sequential ultracentrifuge (Ravel et al 1955).…”