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Decreased circulating chenodeoxycholic acid concentration

MedGen UID:
1814222
•Concept ID:
C5676649
•
Finding
Synonym: Decreased circulating chenodiol concentration
 
HPO: HP:0034048

Definition

A reduced concentration of chenodeoxycholic acid in the blood circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased circulating chenodeoxycholic acid concentration

Conditions with this feature

Bile acid malabsorption, primary, 2
MedGen UID:
1794172
•Concept ID:
C5561962
•
Disease or Syndrome
Primary bile acid malabsorption-2 (PBAM2) is an autosomal recessive disorder characterized by chronic diarrhea, severe fat-soluble vitamin deficiency, and features of cholestatic liver disease (Sultan et al., 2018). For discussion of genetic heterogeneity of primary bile acid malabsorption, see PBAM1 (613291).
See: Condition Record
Bile acid malabsorption, primary, 2

Professional guidelines

PubMed

Cholestyramine treatment reduces postprandial but not fasting serum bile acid levels in humans.
Angelin B, Björkhem I, Einarsson K, Ewerth S
Gastroenterology 1982 Nov;83(5):1097-101. PMID: 7117793

Recent clinical studies

Etiology

A bout of endurance and resistance exercise transiently decreases plasma levels of bile acids in young, sedentary adults.
Osuna-Prieto FJ, Jurado-Fasoli L, Plaza-Florido A, Yang W, Kohler I, Di X, Rubio-López J, Sanchez-Delgado G, Rensen PCN, Ruiz JR, Martinez-Tellez B
Scand J Med Sci Sports 2023 Sep;33(9):1607-1620. Epub 2023 Jun 6 doi: 10.1111/sms.14405. PMID: 37278109
Serum Bile Acid Levels Before and After Sleeve Gastrectomy and Their Correlation with Obesity-Related Comorbidities.
De Vuono S, Ricci MA, Nulli Migliola E, Monti MC, Morretta E, Boni M, Ministrini S, Carino A, Fiorucci S, Distrutti E, Lupattelli G
Obes Surg 2019 Aug;29(8):2517-2526. doi: 10.1007/s11695-019-03877-6. PMID: 31069691
Bile acids and progesterone metabolites in intrahepatic cholestasis of pregnancy.
Reyes H, Sjövall J
Ann Med 2000 Mar;32(2):94-106. doi: 10.3109/07853890009011758. PMID: 10766400
Bile acid concentrations in serum and duodenal aspirates of healthy preterm infants: effects of gestational and postnatal age.
Boehm G, Braun W, Moro G, Minoli I
Biol Neonate 1997;71(4):207-14. doi: 10.1159/000244419. PMID: 9129789
Cholesterol-lowering effect of ursodeoxycholic acid in patients with primary biliary cirrhosis.
Poupon RE, Ouguerram K, Chrétien Y, Verneau C, Eschwège E, Magot T, Poupon R
Hepatology 1993 Apr;17(4):577-82. doi: 10.1002/hep.1840170408. PMID: 8477962

Diagnosis

Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols.
DeBarber AE, Schaefer EJ, Do J, Ray JW, Larson A, Redder S, Fowler M, Duell PB
J Clin Lipidol 2024 May-Jun;18(3):e465-e476. Epub 2024 Mar 15 doi: 10.1016/j.jacl.2024.03.004. PMID: 38637260
Bile acids and progesterone metabolites in intrahepatic cholestasis of pregnancy.
Reyes H, Sjövall J
Ann Med 2000 Mar;32(2):94-106. doi: 10.3109/07853890009011758. PMID: 10766400
Bile acid concentrations in serum and duodenal aspirates of healthy preterm infants: effects of gestational and postnatal age.
Boehm G, Braun W, Moro G, Minoli I
Biol Neonate 1997;71(4):207-14. doi: 10.1159/000244419. PMID: 9129789
The plasma level of 7 alpha-hydroxy-4-cholesten-3-one reflects the activity of hepatic cholesterol 7 alpha-hydroxylase in man.
Axelson M, Björkhem I, Reihnér E, Einarsson K
FEBS Lett 1991 Jun 24;284(2):216-8. doi: 10.1016/0014-5793(91)80688-y. PMID: 2060639
Gallbladder function and maternal bile acids in intrahepatic cholestasis of pregnancy.
Kirkinen P, Ylöstalo P, Heikkinen J, Mäentausta O
Eur J Obstet Gynecol Reprod Biol 1984 Sep;18(1-2):29-34. doi: 10.1016/0028-2243(84)90030-3. PMID: 6500148

Therapy

Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols.
DeBarber AE, Schaefer EJ, Do J, Ray JW, Larson A, Redder S, Fowler M, Duell PB
J Clin Lipidol 2024 May-Jun;18(3):e465-e476. Epub 2024 Mar 15 doi: 10.1016/j.jacl.2024.03.004. PMID: 38637260
Effects of Manipulating Circulating Bile Acid Concentrations on Postprandial GLP-1 Secretion and Glucose Metabolism After Roux-en-Y Gastric Bypass.
Jonsson I, Bojsen-Møller KN, Kristiansen VB, Veedfald S, Wewer Albrechtsen NJ, Clausen TR, Kuhre RE, Rehfeld JF, Holst JJ, Madsbad S, Svane MS
Front Endocrinol (Lausanne) 2021;12:681116. Epub 2021 May 14 doi: 10.3389/fendo.2021.681116. PMID: 34084153Free PMC Article
Cholesterol-lowering effect of ursodeoxycholic acid in patients with primary biliary cirrhosis.
Poupon RE, Ouguerram K, Chrétien Y, Verneau C, Eschwège E, Magot T, Poupon R
Hepatology 1993 Apr;17(4):577-82. doi: 10.1002/hep.1840170408. PMID: 8477962
Cholestyramine treatment reduces postprandial but not fasting serum bile acid levels in humans.
Angelin B, Björkhem I, Einarsson K, Ewerth S
Gastroenterology 1982 Nov;83(5):1097-101. PMID: 7117793
Effect of cholestyramine and phenobarbital on pruritus and serum bile acid levels in cholestasis of pregnancy.
Laatikainen T
Am J Obstet Gynecol 1978 Nov 1;132(5):501-6. doi: 10.1016/0002-9378(78)90743-3. PMID: 717452

Prognosis

Bile acids and progesterone metabolites in intrahepatic cholestasis of pregnancy.
Reyes H, Sjövall J
Ann Med 2000 Mar;32(2):94-106. doi: 10.3109/07853890009011758. PMID: 10766400
Cholesterol-lowering effect of ursodeoxycholic acid in patients with primary biliary cirrhosis.
Poupon RE, Ouguerram K, Chrétien Y, Verneau C, Eschwège E, Magot T, Poupon R
Hepatology 1993 Apr;17(4):577-82. doi: 10.1002/hep.1840170408. PMID: 8477962
Anemia with spur cells: a red cell defect acquired in serum and modified in the circulation.
Cooper RA
J Clin Invest 1969 Oct;48(10):1820-31. doi: 10.1172/JCI106148. PMID: 5822588Free PMC Article

Clinical prediction guides

Serum Bile Acid Levels Before and After Sleeve Gastrectomy and Their Correlation with Obesity-Related Comorbidities.
De Vuono S, Ricci MA, Nulli Migliola E, Monti MC, Morretta E, Boni M, Ministrini S, Carino A, Fiorucci S, Distrutti E, Lupattelli G
Obes Surg 2019 Aug;29(8):2517-2526. doi: 10.1007/s11695-019-03877-6. PMID: 31069691
Bile acids and progesterone metabolites in intrahepatic cholestasis of pregnancy.
Reyes H, Sjövall J
Ann Med 2000 Mar;32(2):94-106. doi: 10.3109/07853890009011758. PMID: 10766400
Extrahepatic deposition and cytotoxicity of lithocholic acid: studies in two hamster models of hepatic failure and in cultured human fibroblasts.
Ceryak S, Bouscarel B, Malavolti M, Fromm H
Hepatology 1998 Feb;27(2):546-56. doi: 10.1002/hep.510270232. PMID: 9462656
Bile acid concentrations in serum and duodenal aspirates of healthy preterm infants: effects of gestational and postnatal age.
Boehm G, Braun W, Moro G, Minoli I
Biol Neonate 1997;71(4):207-14. doi: 10.1159/000244419. PMID: 9129789

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