Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B,[1] below the 5th percentile.[2] The patient can have hypobetalipoproteinemia and simultaneously have high levels of HDL cholesterol.
Notably, in people who do not have the genetic disorder hypobetalipoproteinemia, a very low cholesterol level (less than 100 mg/dl) may be a marker for poor nutrition, wasting disease, cancer, hyperthyroidism, and liver disease. In 1997 a study showed that Japanese Centenarians had tenfold increase of hypobetalipoproteinemia compared with controls.
Typically in hypobetalipoproteinemia, plasma cholesterol levels will be around 80–120 mg/dL, LDL cholesterol will be around 50–80 mg/dL.[citation needed]
Treatmentedit
Early high doses of vitamin E in infants and children has shown to be effective.[5]
Referencesedit
^Schonfeld G, Lin X, Yue P (June 2005). "Familial hypobetalipoproteinemia: genetics and metabolism". Cell. Mol. Life Sci. 62 (12): 1372–8. doi:10.1007/s00018-005-4473-0. PMID 15818469. S2CID 9054743.
^Schonfeld G (May 2003). "Familial hypobetalipoproteinemia: a review". J. Lipid Res. 44 (5): 878–83. doi:10.1194/jlr.R300002-JLR200. PMID 12639976.
^Young SG, Hubl ST, Chappell DA, et al. (June 1989). "Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46)". N. Engl. J. Med.320 (24): 1604–10. doi:10.1056/NEJM198906153202407. PMID 2725600.
^Tarugi P, Averna M, Di Leo E, et al. (December 2007). "Molecular diagnosis of hypobetalipoproteinemia: an ENID review". Atherosclerosis. 195 (2): e19–27. doi:10.1016/j.atherosclerosis.2007.05.003. PMID 17570373.
^Zamel, Rola; Khan, Razi; Pollex, Rebecca L.; Hegele, Robert A. (2008-07-08). "Abetalipoproteinemia: two case reports and literature review". Orphanet Journal of Rare Diseases. 3: 19. doi:10.1186/1750-1172-3-19. ISSN 1750-1172. PMC2467409. PMID 18611256.
External linksedit
December 15, 2023
hypobetalipoproteinemia, disorder, consisting, levels, cholesterol, apolipoprotein, below, percentile, patient, have, hypobetalipoproteinemia, simultaneously, have, high, levels, cholesterol, specialtyendocrinology, notably, people, have, genetic, disorder, hy. Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B 1 below the 5th percentile 2 The patient can have hypobetalipoproteinemia and simultaneously have high levels of HDL cholesterol HypobetalipoproteinemiaSpecialtyEndocrinology Notably in people who do not have the genetic disorder hypobetalipoproteinemia a very low cholesterol level less than 100 mg dl may be a marker for poor nutrition wasting disease cancer hyperthyroidism and liver disease In 1997 a study showed that Japanese Centenarians had tenfold increase of hypobetalipoproteinemia compared with controls Contents 1 Causes 2 Diagnosis 3 Treatment 4 References 5 External linksCauses editOne form is thought to be caused by mutated apolipoprotein B 3 Another form is associated with microsomal triglyceride transfer protein which causes abetalipoproteinemia A third form chylomicron retention disease CRD is associated with SARA2 4 Diagnosis editTypically in hypobetalipoproteinemia plasma cholesterol levels will be around 80 120 mg dL LDL cholesterol will be around 50 80 mg dL citation needed Treatment editEarly high doses of vitamin E in infants and children has shown to be effective 5 References edit Schonfeld G Lin X Yue P June 2005 Familial hypobetalipoproteinemia genetics and metabolism Cell Mol Life Sci 62 12 1372 8 doi 10 1007 s00018 005 4473 0 PMID 15818469 S2CID 9054743 Schonfeld G May 2003 Familial hypobetalipoproteinemia a review J Lipid Res 44 5 878 83 doi 10 1194 jlr R300002 JLR200 PMID 12639976 Young SG Hubl ST Chappell DA et al June 1989 Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B B 46 N Engl J Med 320 24 1604 10 doi 10 1056 NEJM198906153202407 PMID 2725600 Tarugi P Averna M Di Leo E et al December 2007 Molecular diagnosis of hypobetalipoproteinemia an ENID review Atherosclerosis 195 2 e19 27 doi 10 1016 j atherosclerosis 2007 05 003 PMID 17570373 Zamel Rola Khan Razi Pollex Rebecca L Hegele Robert A 2008 07 08 Abetalipoproteinemia two case reports and literature review Orphanet Journal of Rare Diseases 3 19 doi 10 1186 1750 1172 3 19 ISSN 1750 1172 PMC 2467409 PMID 18611256 External links edit Retrieved from https en wikipedia org w index php title Hypobetalipoproteinemia amp oldid 1188059160, wikipedia, wiki, book, books, library,
