PMID: 6110091Feb 28, 1981Paper

Hyperapobetalipoproteinaemia in two families with xanthomas and phytosterolaemia

Lancet
P O KwiterovichA D Sniderman

Abstract

The death of a 13-year-old boy from coronary atherosclerosis prompted the study of an Amish family. Five of his twelve sibs had tendon and tuberous xanthomas, and increased plasma plant sterols, particularly beta-sitosterol. The plasma level of the major apoprotein of low density lipoprotein (LDL), the B protein, was very high (mean 173 mg/dl) in these five sibs, while the LDL cholesterol level was moderately increased (209 mg/dl). Four other sibs and both parents had an increased LDL B protein level with a normal or mildly raised plasma total and LDL cholesterol level (hyperapobeta-lipoproteinaemia). Evidence for coronary artery disease was found in both parents and three xanthomatous sibs. The original family with beta-sitosterolaemia and xanthomatosis, described in 1974, was re-examined. The proband and her sister had persistent phytosterolaemia and normocholesterolaemia but increased LDL B protein levels. Both parents, two uncles, and three of four grandparents had increased LDL B protein levels and normal total and LDL cholesterol levels. The proband's father had atypical angina pectoris. People with the full syndrome (phytosterolaemia, xanthomas, and hyperapobetalipoproteinaemia) are most probably homozygous for a mutant ...Continue Reading

References

Feb 1, 1975·Annals of Internal Medicine·D S FredricksonR I Levy
Jun 1, 1976·Lipids·S Chatterjee, P O Kwiterovich
Jan 1, 1977·Annual Review of Biochemistry·J L Goldstein, M S Brown
Apr 1, 1978·The Journal of Clinical Investigation·A SnidermanB Teng
Feb 1, 1979·European Journal of Clinical Investigation·A V Jadhav, G R Thompson
Feb 26, 1976·The New England Journal of Medicine·R S ShulmanD S Fredrickson
Apr 1, 1974·The Journal of Clinical Investigation·A K Bhattacharyya, W E Connor
May 25, 1971·Biochimica Et Biophysica Acta·C EhnholmH Aro
Jan 1, 1980·Proceedings of the National Academy of Sciences of the United States of America·A SnidermanP O Kwiterovich
May 1, 1980·Proceedings of the National Academy of Sciences of the United States of America·J P KaneH E Paulus
Sep 1, 1955·The Journal of Clinical Investigation·R J HAVELJ H BRAGDON

❮ Previous
Next ❯

Citations

Jan 1, 1991·European Journal of Clinical Pharmacology·J Davignon
Dec 19, 2012·Molecular Biotechnology·Faranak FattahiHossein Baharvand
Nov 1, 1988·Clinica Chimica Acta; International Journal of Clinical Chemistry·P S Bachorik, P O Kwiterovich
May 30, 2001·European Journal of Human Genetics : EJHG·K LuS B Patel
Oct 1, 1993·Journal of Internal Medicine·T Koivunen-NiemeläJ Viikari
Apr 1, 1984·Pediatric Dermatology·C Haber, P O Kwiterovich
Sep 1, 1994·Postgraduate Medical Journal·G M BergerM Biggs
Dec 18, 2012·Arteriosclerosis, Thrombosis, and Vascular Biology·Richard B HorensteinNanette I Steinle
Jun 1, 1986·The Journal of Clinical Investigation·R E GreggH B Brewer
Dec 15, 2010·International Archives of Medicine·Faisal A Al-AllafMichael Themis
Mar 25, 2017·Atherosclerosis·Rgia A OthmanPeter J H Jones
Apr 7, 2017·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Toni Schumacher, Ralf A Benndorf
Feb 1, 1986·The Journal of Pediatrics·R G McArthurL Marai
Jan 1, 1987·Genetic Epidemiology·S J HasstedtR R Williams
Apr 24, 2008·The Annals of Pharmacotherapy·Kevin W GareyHerbert L DuPont
Oct 30, 2004·Arteriosclerosis, Thrombosis, and Vascular Biology·Kenneth R WilundHelen H Hobbs
May 1, 1987·Arteriosclerosis : an Official Journal of the American Heart Association, Inc·P O KwiterovichA Sniderman
May 1, 1993·Arteriosclerosis and Thrombosis : a Journal of Vascular Biology·A D Sniderman, K Cianflone
Jan 1, 1983·American Journal of Medical Genetics·S P Daiger, A Chakravarti
Sep 5, 2017·The Open Cardiovascular Medicine Journal·Faisal AlallafZuhier Awan
Apr 23, 2016·Annals of Pediatric Endocrinology & Metabolism·Eun-Gyong Yoo
Dec 3, 2003·Annals of Medicine·Knut Erik Berge
Jun 30, 2019·Der Internist·D Lütjohann
Mar 1, 1992·Annals of Clinical Biochemistry·G F Watts, W D Mitchell
Apr 5, 2001·Journal of Inherited Metabolic Disease·M TogoY Hashimoto
Apr 4, 2021·International Journal of Molecular Sciences·Kori WilliamsGregory A Graf
Jan 7, 2000·The American Journal of Medicine·M H Moghadasian, J J Frohlich
Jan 1, 1985·Pharmacology & Therapeutics·O J Pollak
Nov 1, 1983·Preventive Medicine·P O Kwiterovich, A D Sniderman
Jul 17, 2021·European Heart Journal. Case Reports·Tanja Charlotte FrederiksenHelle Lynge Kanstrup
Oct 24, 1998·Endocrinology and Metabolism Clinics of North America·J Davignon, J Genest

❮ Previous
Next ❯

Related Concepts

Related Feeds

ApoE, Lipids & Cholesterol

Serum cholesterol, triglycerides, apolipoprotein B (APOB)-containing lipoproteins (very low-density lipoprotein (VLDL), immediate-density lipoprotein (IDL), and low-density lipoprotein (LDL), lipoprotein A (LPA)) and the total cholesterol/high-density lipoprotein (HDL) cholesterol ratio are all connected in diseases. Here is the latest research.