Studies on lipoprotein metabolism in a family with jejunal chylomicron retention

A. Nemeth, U. Myrdal, B. Veress, M. Rudling, Lars Berglund, B. Angelin

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

We describe two siblings with fat malabsorption and jejunal chylomicron retention. Plasma lipoproteins were studied in the patients and their first- degree relatives. The patients were a 14-year-old girl and her 8-year-old brother. Compared to healthy controls, they both had low fasting plasma concentrations of plasma total, HDL, and LDL cholesterol, as well as of apolipoproteins A-I and B. No increase in plasma lipoprotein levels or detectable apo B-48 was observed following an oral fat load. Histological studies of jejunal biopsy specimens obtained during fasting and 1 h postprandially showed severe steatosis, and an apparent block of chylomicron secretion from the endoplasmic reticulum into the Golgi apparatus was observed by electron microscopy. Liver biopsy specimens showed moderate steatosis and ultrastructural changes similar to those in the enterocytes. One healthy sister had a normal plasma lipoprotein pattern, and showed increased plasma triglyceride levels as well as the presence of apo B-48 following an oral fat load. Both parents had normal plasma total cholesterol levels, but clearly reduced fasting concentrations of HDL cholesterol and apo A-I. At least in this family, determination of plasma apo A-I levels might thus prove useful in the identification of heterozygotes.

Original languageEnglish (US)
Pages (from-to)271-280
Number of pages10
JournalEuropean Journal of Clinical Investigation
Volume25
Issue number4
StatePublished - 1995
Externally publishedYes

Fingerprint

Chylomicrons
Metabolism
Lipoproteins
Plasmas
Apolipoprotein A-I
Apolipoprotein B-48
Siblings
Fasting
Biopsy
Fats
HDL Cholesterol
Enterocytes
Apolipoproteins B
Golgi Apparatus
Heterozygote
Endoplasmic Reticulum
Liver
LDL Cholesterol
Electron microscopy
Electron Microscopy

Keywords

  • Chylomicrons
  • fat absorption
  • genetic disease
  • lipoproteins
  • steatosis

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Nemeth, A., Myrdal, U., Veress, B., Rudling, M., Berglund, L., & Angelin, B. (1995). Studies on lipoprotein metabolism in a family with jejunal chylomicron retention. European Journal of Clinical Investigation, 25(4), 271-280.

Studies on lipoprotein metabolism in a family with jejunal chylomicron retention. / Nemeth, A.; Myrdal, U.; Veress, B.; Rudling, M.; Berglund, Lars; Angelin, B.

In: European Journal of Clinical Investigation, Vol. 25, No. 4, 1995, p. 271-280.

Research output: Contribution to journalArticle

Nemeth, A, Myrdal, U, Veress, B, Rudling, M, Berglund, L & Angelin, B 1995, 'Studies on lipoprotein metabolism in a family with jejunal chylomicron retention', European Journal of Clinical Investigation, vol. 25, no. 4, pp. 271-280.
Nemeth, A. ; Myrdal, U. ; Veress, B. ; Rudling, M. ; Berglund, Lars ; Angelin, B. / Studies on lipoprotein metabolism in a family with jejunal chylomicron retention. In: European Journal of Clinical Investigation. 1995 ; Vol. 25, No. 4. pp. 271-280.
@article{4a18febe94ce4769a4a3abe3628cf9f6,
title = "Studies on lipoprotein metabolism in a family with jejunal chylomicron retention",
abstract = "We describe two siblings with fat malabsorption and jejunal chylomicron retention. Plasma lipoproteins were studied in the patients and their first- degree relatives. The patients were a 14-year-old girl and her 8-year-old brother. Compared to healthy controls, they both had low fasting plasma concentrations of plasma total, HDL, and LDL cholesterol, as well as of apolipoproteins A-I and B. No increase in plasma lipoprotein levels or detectable apo B-48 was observed following an oral fat load. Histological studies of jejunal biopsy specimens obtained during fasting and 1 h postprandially showed severe steatosis, and an apparent block of chylomicron secretion from the endoplasmic reticulum into the Golgi apparatus was observed by electron microscopy. Liver biopsy specimens showed moderate steatosis and ultrastructural changes similar to those in the enterocytes. One healthy sister had a normal plasma lipoprotein pattern, and showed increased plasma triglyceride levels as well as the presence of apo B-48 following an oral fat load. Both parents had normal plasma total cholesterol levels, but clearly reduced fasting concentrations of HDL cholesterol and apo A-I. At least in this family, determination of plasma apo A-I levels might thus prove useful in the identification of heterozygotes.",
keywords = "Chylomicrons, fat absorption, genetic disease, lipoproteins, steatosis",
author = "A. Nemeth and U. Myrdal and B. Veress and M. Rudling and Lars Berglund and B. Angelin",
year = "1995",
language = "English (US)",
volume = "25",
pages = "271--280",
journal = "European Journal of Clinical Investigation",
issn = "0014-2972",
publisher = "Wiley-Blackwell",
number = "4",

}

TY - JOUR

T1 - Studies on lipoprotein metabolism in a family with jejunal chylomicron retention

AU - Nemeth, A.

AU - Myrdal, U.

AU - Veress, B.

AU - Rudling, M.

AU - Berglund, Lars

AU - Angelin, B.

PY - 1995

Y1 - 1995

N2 - We describe two siblings with fat malabsorption and jejunal chylomicron retention. Plasma lipoproteins were studied in the patients and their first- degree relatives. The patients were a 14-year-old girl and her 8-year-old brother. Compared to healthy controls, they both had low fasting plasma concentrations of plasma total, HDL, and LDL cholesterol, as well as of apolipoproteins A-I and B. No increase in plasma lipoprotein levels or detectable apo B-48 was observed following an oral fat load. Histological studies of jejunal biopsy specimens obtained during fasting and 1 h postprandially showed severe steatosis, and an apparent block of chylomicron secretion from the endoplasmic reticulum into the Golgi apparatus was observed by electron microscopy. Liver biopsy specimens showed moderate steatosis and ultrastructural changes similar to those in the enterocytes. One healthy sister had a normal plasma lipoprotein pattern, and showed increased plasma triglyceride levels as well as the presence of apo B-48 following an oral fat load. Both parents had normal plasma total cholesterol levels, but clearly reduced fasting concentrations of HDL cholesterol and apo A-I. At least in this family, determination of plasma apo A-I levels might thus prove useful in the identification of heterozygotes.

AB - We describe two siblings with fat malabsorption and jejunal chylomicron retention. Plasma lipoproteins were studied in the patients and their first- degree relatives. The patients were a 14-year-old girl and her 8-year-old brother. Compared to healthy controls, they both had low fasting plasma concentrations of plasma total, HDL, and LDL cholesterol, as well as of apolipoproteins A-I and B. No increase in plasma lipoprotein levels or detectable apo B-48 was observed following an oral fat load. Histological studies of jejunal biopsy specimens obtained during fasting and 1 h postprandially showed severe steatosis, and an apparent block of chylomicron secretion from the endoplasmic reticulum into the Golgi apparatus was observed by electron microscopy. Liver biopsy specimens showed moderate steatosis and ultrastructural changes similar to those in the enterocytes. One healthy sister had a normal plasma lipoprotein pattern, and showed increased plasma triglyceride levels as well as the presence of apo B-48 following an oral fat load. Both parents had normal plasma total cholesterol levels, but clearly reduced fasting concentrations of HDL cholesterol and apo A-I. At least in this family, determination of plasma apo A-I levels might thus prove useful in the identification of heterozygotes.

KW - Chylomicrons

KW - fat absorption

KW - genetic disease

KW - lipoproteins

KW - steatosis

UR - http://www.scopus.com/inward/record.url?scp=0028900398&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028900398&partnerID=8YFLogxK

M3 - Article

C2 - 7601203

AN - SCOPUS:0028900398

VL - 25

SP - 271

EP - 280

JO - European Journal of Clinical Investigation

JF - European Journal of Clinical Investigation

SN - 0014-2972

IS - 4

ER -