U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Increased total bilirubin

MedGen UID:
152856
Concept ID:
C0741494
Finding
Synonym: Elevated total bilirubin
SNOMED CT: Elevated total bilirubin (176271000119108); Total bilirubin above reference range (176271000119108)
 
HPO: HP:0003573

Definition

Increased concentration of total (conjugated and unconjugated) bilirubin in the blood. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased total bilirubin

Conditions with this feature

Glycogen storage disease, type VII
MedGen UID:
5342
Concept ID:
C0017926
Disease or Syndrome
Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.
Polycystic liver disease 1
MedGen UID:
165781
Concept ID:
C0887850
Congenital Abnormality
Polycystic liver disease-1 is an autosomal dominant condition characterized by the presence of multiple liver cysts of biliary epithelial origin. Although the clinical presentation and histologic features of polycystic liver disease in the presence or absence of autosomal dominant polycystic kidney disease (see, e.g., PKD1, 173900) are indistinguishable, PCLD1 is a genetically distinct form of isolated polycystic liver disease (summary by Reynolds et al., 2000). A subset of patients (28-35%) may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (review by Cnossen and Drenth, 2014). Genetic Heterogeneity of Polycystic Liver Disease See also PCLD2 (617004), caused by mutation in the SEC63 gene (608648) on chromosome 6q21; PCLD3 (617874), caused by mutation in the ALG8 gene (608103) on chromosome 11p; and PCLD4 (617875), causes by mutation in the LRP5 gene (603506) on chromosome 11q13.
Carnitine palmitoyl transferase II deficiency, neonatal form
MedGen UID:
318896
Concept ID:
C1833518
Disease or Syndrome
Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.
Familial hemophagocytic lymphohistiocytosis 2
MedGen UID:
400366
Concept ID:
C1863727
Disease or Syndrome
Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG; 147570) and TNF-alpha (191160), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see 267700.
Lipoyl transferase 1 deficiency
MedGen UID:
904073
Concept ID:
C4225379
Disease or Syndrome
Lipoyl transferase 1 deficiency is a very rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension.
Extrahepatic biliary atresia
MedGen UID:
1621383
Concept ID:
C4520983
Congenital Abnormality
Biliary atresia is a disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow. Untreated, the resulting cholestasis leads to progressive conjugated hyperbilirubinemia, cirrhosis, and hepatic failure (Bates et al., 1998). Most patients require liver transplantation within the first year of life (Leyva-Vega et al., 2010). See also Alagille syndrome (118450), which includes biliary atresia as a feature.
Familial hemophagocytic lymphohistiocytosis type 1
MedGen UID:
1642840
Concept ID:
C4551514
Disease or Syndrome
Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.
Mitochondrial DNA depletion syndrome 16 (hepatic type)
MedGen UID:
1684495
Concept ID:
C5193142
Disease or Syndrome
Cholestasis, progressive familial intrahepatic, 10
MedGen UID:
1807702
Concept ID:
C5676981
Disease or Syndrome
Progressive familial intrahepatic cholestasis-10 (PFIC10) is an autosomal recessive liver disorder characterized by the onset of symptoms in the first months or years of life. Features include jaundice, pruritis, and hepatomegaly associated with increased serum bilirubin and bile acids. Liver transaminases may be variably increased, but gamma-glutamyltransferase (GGT; see 612346) is normal. Liver biopsy shows hepatocellular and canalicular cholestasis with giant cell changes. Although rare patients may have episodes of diarrhea and even show endoscopic features of microvillus inclusion disease (MVID), this tends to be transient and cholestasis dominates the clinical picture (Gonzales et al., 2017; Cockar et al., 2020). For a discussion of genetic heterogeneity of progressive familial intrahepatic cholestasis, see PFIC1 (211600).

Professional guidelines

PubMed

Pellegrini L, Belcaro G, Dugall M, Corsi M, Luzzi R, Hosoi M
Minerva Gastroenterol Dietol 2016 Sep;62(3):245-52. PMID: 27404261
Mirjanic-Azaric B, Rizzo M, Jürgens G, Hallstroem S, Srdic S, Marc J, Cerne D
Scand J Clin Lab Invest 2015 Sep;75(5):382-9. Epub 2015 Apr 29 doi: 10.3109/00365513.2015.1031691. PMID: 25922869
Stein EA, Bays H, O'Brien D, Pedicano J, Piper E, Spezzi A
Circulation 2011 May 10;123(18):1974-85. Epub 2011 Apr 25 doi: 10.1161/CIRCULATIONAHA.110.975284. PMID: 21518985

Recent clinical studies

Etiology

Han H, Yu Q, Qin N, Song B, Meng Y, Feng Z, Li Z, Chen L
Ann Hepatol 2024 Mar-Apr;29(2):101177. Epub 2023 Nov 3 doi: 10.1016/j.aohep.2023.101177. PMID: 37924867
Zhang RJ, Zhou HM, Lu HY, Yu HP, Tang WZ, Qiu MQ, Yan LY, Long MY, Su TS, Xiang BD, He ML, Wang XT, Liang SX, Li JX
Radiat Oncol 2023 Aug 4;18(1):129. doi: 10.1186/s13014-023-02309-1. PMID: 37542246Free PMC Article
Wasuwanich P, Choudry H, So JM, Lowry S, Karnsakul W
Clin Res Hepatol Gastroenterol 2022 Nov;46(9):102015. Epub 2022 Sep 5 doi: 10.1016/j.clinre.2022.102015. PMID: 36067952
Yao ME, Su MY, Huang Y, Chen W
Nutr Metab Cardiovasc Dis 2021 Apr 9;31(4):1016-1026. Epub 2021 Jan 12 doi: 10.1016/j.numecd.2021.01.002. PMID: 33612380
Zhang GM, Hu ZD
J Clin Lab Anal 2018 Feb;32(2) Epub 2017 May 19 doi: 10.1002/jcla.22233. PMID: 28523701Free PMC Article

Diagnosis

Han H, Yu Q, Qin N, Song B, Meng Y, Feng Z, Li Z, Chen L
Ann Hepatol 2024 Mar-Apr;29(2):101177. Epub 2023 Nov 3 doi: 10.1016/j.aohep.2023.101177. PMID: 37924867
Guan XG, Wei YH, Jiang BG, Zhou SX, Zhang AR, Lu QB, Zhou ZW, Chen JJ, Zhang HY, Ji Y, Yang Y, Fang LQ, Li H, Yang ZC, Liu W
PLoS Negl Trop Dis 2022 Apr;16(4):e0010357. Epub 2022 Apr 29 doi: 10.1371/journal.pntd.0010357. PMID: 35486642Free PMC Article
Kronstein-Wiedemann R, Stadtmüller M, Traikov S, Georgi M, Teichert M, Yosef H, Wallenborn J, Karl A, Schütze K, Wagner M, El-Armouche A, Tonn T
Stem Cell Rev Rep 2022 Jun;18(5):1809-1821. Epub 2022 Feb 18 doi: 10.1007/s12015-021-10322-8. PMID: 35181867Free PMC Article
Yao ME, Su MY, Huang Y, Chen W
Nutr Metab Cardiovasc Dis 2021 Apr 9;31(4):1016-1026. Epub 2021 Jan 12 doi: 10.1016/j.numecd.2021.01.002. PMID: 33612380
Parvinian A, Iyer VN, Pannu BS, Apala DR, Wood CP, Brinjikji W
AJNR Am J Neuroradiol 2017 Oct;38(10):1929-1933. Epub 2017 Aug 3 doi: 10.3174/ajnr.A5322. PMID: 28775059Free PMC Article

Therapy

Wasuwanich P, Choudry H, So JM, Lowry S, Karnsakul W
Clin Res Hepatol Gastroenterol 2022 Nov;46(9):102015. Epub 2022 Sep 5 doi: 10.1016/j.clinre.2022.102015. PMID: 36067952
Guan XG, Wei YH, Jiang BG, Zhou SX, Zhang AR, Lu QB, Zhou ZW, Chen JJ, Zhang HY, Ji Y, Yang Y, Fang LQ, Li H, Yang ZC, Liu W
PLoS Negl Trop Dis 2022 Apr;16(4):e0010357. Epub 2022 Apr 29 doi: 10.1371/journal.pntd.0010357. PMID: 35486642Free PMC Article
Bessone F, Hernandez N, Mendizabal M, Ridruejo E, Gualano G, Fassio E, Peralta M, Fainboim H, Anders M, Tanno H, Tanno F, Parana R, Medina-Caliz I, Robles-Diaz M, Alvarez-Alvarez I, Niu H, Stephens C, Colombato L, Arrese M, Reggiardo MV, Ono SK, Carrilho F, Lucena MI, Andrade RJ
Arch Toxicol 2021 Apr;95(4):1475-1487. Epub 2021 Mar 24 doi: 10.1007/s00204-021-03000-8. PMID: 33759010
Yao ME, Su MY, Huang Y, Chen W
Nutr Metab Cardiovasc Dis 2021 Apr 9;31(4):1016-1026. Epub 2021 Jan 12 doi: 10.1016/j.numecd.2021.01.002. PMID: 33612380
Zhu Y, Gu L, Chen T, Zheng G, Ye C, Jia W
J Int Med Res 2020 Aug;48(8):300060520945552. doi: 10.1177/0300060520945552. PMID: 33106072Free PMC Article

Prognosis

Wasuwanich P, Choudry H, So JM, Lowry S, Karnsakul W
Clin Res Hepatol Gastroenterol 2022 Nov;46(9):102015. Epub 2022 Sep 5 doi: 10.1016/j.clinre.2022.102015. PMID: 36067952
Guan XG, Wei YH, Jiang BG, Zhou SX, Zhang AR, Lu QB, Zhou ZW, Chen JJ, Zhang HY, Ji Y, Yang Y, Fang LQ, Li H, Yang ZC, Liu W
PLoS Negl Trop Dis 2022 Apr;16(4):e0010357. Epub 2022 Apr 29 doi: 10.1371/journal.pntd.0010357. PMID: 35486642Free PMC Article
Kronstein-Wiedemann R, Stadtmüller M, Traikov S, Georgi M, Teichert M, Yosef H, Wallenborn J, Karl A, Schütze K, Wagner M, El-Armouche A, Tonn T
Stem Cell Rev Rep 2022 Jun;18(5):1809-1821. Epub 2022 Feb 18 doi: 10.1007/s12015-021-10322-8. PMID: 35181867Free PMC Article
Yao ME, Su MY, Huang Y, Chen W
Nutr Metab Cardiovasc Dis 2021 Apr 9;31(4):1016-1026. Epub 2021 Jan 12 doi: 10.1016/j.numecd.2021.01.002. PMID: 33612380
Zhang GM, Hu ZD
J Clin Lab Anal 2018 Feb;32(2) Epub 2017 May 19 doi: 10.1002/jcla.22233. PMID: 28523701Free PMC Article

Clinical prediction guides

Zhang RJ, Zhou HM, Lu HY, Yu HP, Tang WZ, Qiu MQ, Yan LY, Long MY, Su TS, Xiang BD, He ML, Wang XT, Liang SX, Li JX
Radiat Oncol 2023 Aug 4;18(1):129. doi: 10.1186/s13014-023-02309-1. PMID: 37542246Free PMC Article
Guan XG, Wei YH, Jiang BG, Zhou SX, Zhang AR, Lu QB, Zhou ZW, Chen JJ, Zhang HY, Ji Y, Yang Y, Fang LQ, Li H, Yang ZC, Liu W
PLoS Negl Trop Dis 2022 Apr;16(4):e0010357. Epub 2022 Apr 29 doi: 10.1371/journal.pntd.0010357. PMID: 35486642Free PMC Article
Fan W, Guo J, Zhu B, Wang S, Yu L, Huang W, Fan H, Li F, Wu Y, Zhao Y, Wang Y, Xue M, Wang H, Li J
Eur Radiol 2021 Nov;31(11):8291-8301. Epub 2021 Apr 24 doi: 10.1007/s00330-021-07834-9. PMID: 33893536Free PMC Article
Yao ME, Su MY, Huang Y, Chen W
Nutr Metab Cardiovasc Dis 2021 Apr 9;31(4):1016-1026. Epub 2021 Jan 12 doi: 10.1016/j.numecd.2021.01.002. PMID: 33612380
Zhang GM, Hu ZD
J Clin Lab Anal 2018 Feb;32(2) Epub 2017 May 19 doi: 10.1002/jcla.22233. PMID: 28523701Free PMC Article

Recent systematic reviews

Yao ME, Su MY, Huang Y, Chen W
Nutr Metab Cardiovasc Dis 2021 Apr 9;31(4):1016-1026. Epub 2021 Jan 12 doi: 10.1016/j.numecd.2021.01.002. PMID: 33612380

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...