Frühdiagnose und Häufigkeit der familiären Hyperlipoproteinämie Typ II

Abstract

Die frühe Diagnose der familiären Hyperlipoproteinämie vom Typ II a ist aus präventivmedizinischer Sicht von entscheidender Bedeutung. Um festzustellen, ob diese genetisch bedingte Stoffwechselerkrankung bereits bei der Geburt diagnostiziert werden kann, wurden 1323 Neugeborene in Südwestdeutschland untersucht, und nach einem Jahr wurde eine Verlaufskontrolle durchgeführt. Der Normbereich für das Gesamtcholesterin im Nabeischnurblut der Neugeborenen betrug 40-100 mg/dl, der des -ChoIesterins 15-60 mg/dl. Bei 92 Kindern war entweder das Gesamtcholesterin oder das 3-Cholesterin bei der Geburt über den Normalbereich erhöht, wobei Werte, die zwei Standardabweichungen über dem Mittelwert lagen, willkürlich als »pathologisch« definiert wurden. 73 Elternpaare dieser Neugeborenen gelangten zur Untersuchung, von denen wiederum 10 Elternteile ebenfalls eine Hyperli-

Hyperlipoproteinemia in Newborn Infants

“…The interest in making an early diagnosis has to do with the theoretical benefit in reducing the increased risk of premature coronary heart disease by early dietary and pharmaceutical intervention. Five studies (1,2,4,25,26) have shown that measurement of cord serum T-C alone does not discriminate newborns with FH . This is probably due to the fact that most of the cord serum T-C is not transported by the LDL-but by the HDLfraction.…”

“…This is probably due to the fact that most of the cord serum T-C is not transported by the LDL-but by the HDLfraction. Four studies (1)(2)(3)(4) have shown that an elevation of cord serum LDL or VLDL+ LDL will give a suspicion of FH in the child, but only one study (I) has unambiguously shown that an elevated cord serum LDL-C combined with a follow-up study after year one in a child with known FH in one parent allows a diagnosis of FH. In children with unknown parental phenotypes the three existing studies have been incomplete and inconclusive as for estimation of incidence of FH and false positive and negative diagnosis.…”

“…Within the las t few years several studies have been published which sugges t that elevated lipids and lipoproteins in newborns may reflect inherited hyperlipoproteinemia (1)(2)(3)(4)(5) , prematurity (6), postma turity (7) , IUGR (6,8), diabetes in the mother (9)(10)(11), perinatal asphyxia (7,12,13) and antepartum betamethasone treatment (14). Since so many conditions in the newborn are associated with elevated cord blood lipid s and lipoproteins we have investigated: I) factors during pregnancy and delivery which may affect cord serum lipids; 2) the validity of an easy screening method for detecting hyperlipidemia in the newborn ; 3) if in families with familial hypercholesterolemia, examination of cord serum lipids is a reliable way of diagnosing the condition in the infant.…”

NEONATAL HYPERTRIGLYCERIDEMIA A New Index of Antepartum‐Intrapartum Fetal Stress?

“…Most studies have focused on cholesterol and LDL (low density lipoprotein). Kwiterovich et al ( I ) , Greten et al (2), and Andersen & Friis-Hansen (3) have shown that elevated cord serum LDL or LDL-cholestercl indicates, that the newborn infant suffers from familial type I1 hyperlipoproteinemia, characterized by severe hypercholesterolemia, xanthomas and a risk of early ischemic heart-disease (for heterozygous males in their thirties or forties). Furthermore, the studies by Glueck et al (4,5) have suggested that early treatment may be beneficial by lowering the serum cholesterol in these children.…”

Investigation of some cord blood components

“…Several papers have dealt with cord blood cholesterol estimations and the mean values reported ränge from 60 to 82 mg/dl in the studies published between 1970 and 1977 [7,8,10,11,12,13,15,18,20]. According to MISHKEL [17], this discrepancy is due to various (ethnic, nutritional, geographical, etc.)…”