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Elevated circulating lathosterol concentration

MedGen UID:
1841581
•Concept ID:
C5826782
•
Finding
HPO: HP:0034936

Definition

Concentration of lathosterol in the blood circulation above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated circulating lathosterol concentration

Conditions with this feature

Lathosterolosis
MedGen UID:
375885
•Concept ID:
C1846421
•
Disease or Syndrome
Lathosterolosis (LATHOS) is an autosomal recessive disorder characterized by a recognizable pattern of multiple congenital anomalies involving axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. It is caused by a defect of cholesterol biosynthesis due to sterol C5-desaturase deficiency (summary by Rossi et al., 2007).
See: Condition Record
Lathosterolosis

Professional guidelines

PubMed

High-dose statin treatment does not alter plasma marker for brain cholesterol metabolism in patients with moderately elevated plasma cholesterol levels.
Thelen KM, Laaksonen R, Päivä H, Lehtimäki T, Lütjohann D
J Clin Pharmacol 2006 Jul;46(7):812-6. doi: 10.1177/0091270006289851. PMID: 16809807

Recent clinical studies

Etiology

Clinical and pharmacogenetic predictors of circulating atorvastatin and rosuvastatin concentrations in routine clinical care.
DeGorter MK, Tirona RG, Schwarz UI, Choi YH, Dresser GK, Suskin N, Myers K, Zou G, Iwuchukwu O, Wei WQ, Wilke RA, Hegele RA, Kim RB
Circ Cardiovasc Genet 2013 Aug;6(4):400-8. Epub 2013 Jul 22 doi: 10.1161/CIRCGENETICS.113.000099. PMID: 23876492Free PMC Article
Moderately elevated plant sterol levels are associated with reduced cardiovascular risk--the LASA study.
Fassbender K, Lütjohann D, Dik MG, Bremmer M, König J, Walter S, Liu Y, Letièmbre M, von Bergmann K, Jonker C
Atherosclerosis 2008 Jan;196(1):283-288. Epub 2006 Nov 29 doi: 10.1016/j.atherosclerosis.2006.10.032. PMID: 17137582

Diagnosis

Moderately elevated plant sterol levels are associated with reduced cardiovascular risk--the LASA study.
Fassbender K, Lütjohann D, Dik MG, Bremmer M, König J, Walter S, Liu Y, Letièmbre M, von Bergmann K, Jonker C
Atherosclerosis 2008 Jan;196(1):283-288. Epub 2006 Nov 29 doi: 10.1016/j.atherosclerosis.2006.10.032. PMID: 17137582

Therapy

Clinical and pharmacogenetic predictors of circulating atorvastatin and rosuvastatin concentrations in routine clinical care.
DeGorter MK, Tirona RG, Schwarz UI, Choi YH, Dresser GK, Suskin N, Myers K, Zou G, Iwuchukwu O, Wei WQ, Wilke RA, Hegele RA, Kim RB
Circ Cardiovasc Genet 2013 Aug;6(4):400-8. Epub 2013 Jul 22 doi: 10.1161/CIRCGENETICS.113.000099. PMID: 23876492Free PMC Article
Disposition and sterol-lowering effect of ezetimibe are influenced by single-dose coadministration of rifampin, an inhibitor of multidrug transport proteins.
Oswald S, Giessmann T, Luetjohann D, Wegner D, Rosskopf D, Weitschies W, Siegmund W
Clin Pharmacol Ther 2006 Nov;80(5):477-85. doi: 10.1016/j.clpt.2006.07.006. PMID: 17112804
High-dose statin treatment does not alter plasma marker for brain cholesterol metabolism in patients with moderately elevated plasma cholesterol levels.
Thelen KM, Laaksonen R, Päivä H, Lehtimäki T, Lütjohann D
J Clin Pharmacol 2006 Jul;46(7):812-6. doi: 10.1177/0091270006289851. PMID: 16809807

Prognosis

Clinical and pharmacogenetic predictors of circulating atorvastatin and rosuvastatin concentrations in routine clinical care.
DeGorter MK, Tirona RG, Schwarz UI, Choi YH, Dresser GK, Suskin N, Myers K, Zou G, Iwuchukwu O, Wei WQ, Wilke RA, Hegele RA, Kim RB
Circ Cardiovasc Genet 2013 Aug;6(4):400-8. Epub 2013 Jul 22 doi: 10.1161/CIRCGENETICS.113.000099. PMID: 23876492Free PMC Article

Clinical prediction guides

Clinical and pharmacogenetic predictors of circulating atorvastatin and rosuvastatin concentrations in routine clinical care.
DeGorter MK, Tirona RG, Schwarz UI, Choi YH, Dresser GK, Suskin N, Myers K, Zou G, Iwuchukwu O, Wei WQ, Wilke RA, Hegele RA, Kim RB
Circ Cardiovasc Genet 2013 Aug;6(4):400-8. Epub 2013 Jul 22 doi: 10.1161/CIRCGENETICS.113.000099. PMID: 23876492Free PMC Article
The mechanism of the hypocholesterolaemic effect of activated charcoal.
Neuvonen PJ, Kuusisto P, Manninen V, Vapaatalo H, Miettinen TA
Eur J Clin Invest 1989 Jun;19(3):251-4. doi: 10.1111/j.1365-2362.1989.tb00226.x. PMID: 2509211

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