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Extrahepatic biliary atresia(EHBA)

MedGen UID:
1621383
•Concept ID:
C4520983
•
Congenital Abnormality
Synonym: Extrahepatic biliary duct atresia
SNOMED CT: Congenital atresia of extrahepatic bile duct (82821008); Extrahepatic biliary atresia (82821008); EHBA - Extrahepatic biliary atresia (82821008)
 
HPO: HP:0005242
Monarch Initiative: MONDO:0100285
OMIM®: 210500

Definition

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. [from OMIM]

Clinical features

From HPO
Hepatomegaly
MedGen UID:
42428
•Concept ID:
C0019209
•
Finding
Abnormally increased size of the liver.
See: Feature record | Search on this feature
Jaundice
MedGen UID:
43987
•Concept ID:
C0022346
•
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
See: Feature record | Search on this feature
Cirrhosis of liver
MedGen UID:
7368
•Concept ID:
C0023890
•
Disease or Syndrome
A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
See: Feature record | Search on this feature
Bile duct proliferation
MedGen UID:
120603
•Concept ID:
C0267818
•
Disease or Syndrome
Proliferative changes of the bile ducts.
See: Feature record | Search on this feature
Acholic stools
MedGen UID:
436478
•Concept ID:
C2675627
•
Finding
Clay colored stools lacking bile pigment.
See: Feature record | Search on this feature
Atretic gallbladder
MedGen UID:
479575
•Concept ID:
C3277945
•
Finding
Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia.
See: Feature record | Search on this feature
Portal fibrosis
MedGen UID:
893107
•Concept ID:
C3805083
•
Disease or Syndrome
Fibroblast proliferation and fiber expansion from the portal areas to the lobule.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Unconjugated hyperbilirubinemia
MedGen UID:
82786
•Concept ID:
C0268306
•
Disease or Syndrome
An increased amount of unconjugated (indirect) bilurubin in the blood.
See: Feature record | Search on this feature
Hyperbilirubinemia
MedGen UID:
86321
•Concept ID:
C0311468
•
Finding
An increased amount of bilirubin in the blood.
See: Feature record | Search on this feature
Increased total bilirubin
MedGen UID:
152856
•Concept ID:
C0741494
•
Finding
Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.
See: Feature record | Search on this feature
Elevated circulating hepatic transaminase concentration
MedGen UID:
338525
•Concept ID:
C1848701
•
Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVExtrahepatic biliary atresia

Conditions with this feature

Martinez-Frias syndrome
MedGen UID:
318628
•Concept ID:
C1832443
•
Disease or Syndrome
The Martinez-Frias syndrome is characterized by pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula. There is considerable phenotypic overlap between Martinez-Frias syndrome and Mitchell-Riley syndrome (MTCHRS; 615710), the latter being characterized by neonatal diabetes in addition to the features of the Martinez-Frias syndrome, but without tracheoesophageal fistula (Smith et al., 2010).
See: Condition Record
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.
See: Condition Record
Extrahepatic biliary atresia
Martinez-Frias syndrome

Professional guidelines

PubMed

The Kasai procedure in the treatment of biliary atresia.
Oh M, Hobeldin M, Chen T, Thomas DW, Atkinson JB
J Pediatr Surg 1995 Jul;30(7):1077-80; discussion 1080-1. doi: 10.1016/0022-3468(95)90345-3. PMID: 7472936
Differential diagnosis of extrahepatic biliary atresia from neonatal hepatitis: a prospective study.
Lai MW, Chang MH, Hsu SC, Hsu HC, Su CT, Kao CL, Lee CY
J Pediatr Gastroenterol Nutr 1994 Feb;18(2):121-7. doi: 10.1097/00005176-199402000-00001. PMID: 8014758
Early differential diagnosis between neonatal hepatitis and biliary atresia.
Hirsig J, Rickham PP
J Pediatr Surg 1980 Feb;15(1):13-5. doi: 10.1016/s0022-3468(80)80394-0. PMID: 6445003

Recent clinical studies

Etiology

Low incidence of alpha-1-antitrypsin deficiency in Iranian patients with neonatal cholestasis.
Motamed F, Mehrabani S, Monajemzadeh M, Haghi Ashtiani MT, Hosseinverdi S, Houshmand M, Aryani O, Najafi M, Farahmand F, Kiani MA, Khodadad A, Fallahi GH, Khatami G, Rezaei N
Turk J Gastroenterol 2015 May;26(3):251-3. doi: 10.5152/tjg.2015.6339. PMID: 26006201
Biliary atresia revisited.
Kahn E
Pediatr Dev Pathol 2004 Mar-Apr;7(2):109-24. Epub 2004 Mar 4 doi: 10.1007/s10024-003-0307-y. PMID: 14994122
Biliary atresia--lessons from the Dublin experience.
Losty P, Guiney E
Ir Med J 1992 Dec;85(4):144-7. PMID: 1473950
Treatment of inherited metabolic disorders by liver transplantation.
Burdelski M, Rodeck B, Latta A, Latta K, Brodehl J, Ringe B, Pichlmayr R
J Inherit Metab Dis 1991;14(4):604-18. doi: 10.1007/BF01797930. PMID: 1749225
Indications for liver transplantation in childhood.
Burdelski M, Jürgens K, Budde M, Brölsch C, Neuhaus P, Pichlmayr R
Z Kinderchir 1985 Oct;40(5):268-9. doi: 10.1055/s-2008-1059791. PMID: 3907192

Diagnosis

Imaging in Pediatric Obstructive Jaundice.
Jain R, Gupta A, Kandasamy D, Jana M
Indian J Pediatr 2022 Sep;89(9):899-907. Epub 2022 Jun 2 doi: 10.1007/s12098-022-04171-7. PMID: 35653074
Biliary atresia revisited.
Kahn E
Pediatr Dev Pathol 2004 Mar-Apr;7(2):109-24. Epub 2004 Mar 4 doi: 10.1007/s10024-003-0307-y. PMID: 14994122
Neonatal hepatitis syndrome.
Roberts EA
Semin Neonatol 2003 Oct;8(5):357-74. doi: 10.1016/S1084-2756(03)00093-9. PMID: 15001124
Neonatal cholestasis.
Balistreri WF
J Pediatr 1985 Feb;106(2):171-84. doi: 10.1016/s0022-3476(85)80282-1. PMID: 3881579
Hepatic scintigraphy in management of infants and children with liver disease.
Smith AL, Mowat AP, Williams R
Arch Dis Child 1977 Aug;52(8):633-7. doi: 10.1136/adc.52.8.633. PMID: 921309Free PMC Article

Therapy

Management of a cadaveric orthotopic liver transplantation in a pediatric patient with complex congenital heart disease.
Feierman DE, Yudkowitz FS, Hojsak J, Emre S
Paediatr Anaesth 2006 Jun;16(6):669-75. doi: 10.1111/j.1460-9592.2005.01823.x. PMID: 16719884
Postoperative infectious complications in paediatric liver transplantation: a study of 48 transplants.
Bouchut JC, Stamm D, Boillot O, Lepape A, Floret D
Paediatr Anaesth 2001 Jan;11(1):93-8. doi: 10.1046/j.1460-9592.2001.00574.x. PMID: 11123739
Effect of rifampicin in the treatment of pruritus in hepatic cholestasis.
Gregorio GV, Ball CS, Mowat AP, Mieli-Vergani G
Arch Dis Child 1993 Jul;69(1):141-3. doi: 10.1136/adc.69.1.141. PMID: 8024298Free PMC Article
Short- and long-term vitamin A treatment in children with cholestasis.
Amédée-Manesme O, Mourey MS, Therasse J, Couturier M, Alvarez F, Hanck A, Bernard O
Am J Clin Nutr 1988 Apr;47(4):690-3. doi: 10.1093/ajcn/47.4.690. PMID: 3354495
Biliary atresia: an evolving perspective.
Andrews HG, Zwiren GT, Caplan DB, Ricketts R
South Med J 1986 May;79(5):581-4. doi: 10.1097/00007611-198605000-00015. PMID: 3486482

Prognosis

Low incidence of alpha-1-antitrypsin deficiency in Iranian patients with neonatal cholestasis.
Motamed F, Mehrabani S, Monajemzadeh M, Haghi Ashtiani MT, Hosseinverdi S, Houshmand M, Aryani O, Najafi M, Farahmand F, Kiani MA, Khodadad A, Fallahi GH, Khatami G, Rezaei N
Turk J Gastroenterol 2015 May;26(3):251-3. doi: 10.5152/tjg.2015.6339. PMID: 26006201
Biliary atresia: recent progress.
Bassett MD, Murray KF
J Clin Gastroenterol 2008 Jul;42(6):720-9. doi: 10.1097/MCG.0b013e3181646730. PMID: 18496390Free PMC Article
Infantile cholestasis in the Central-Eastern Province Saudi Arabia.
Abdullah AM, al Fadel Saleh M, al Madan M, el Mouzan M, Olasope B
J Trop Pediatr 1997 Jun;43(3):138-42. doi: 10.1093/tropej/43.3.138. PMID: 9231632
Indications for liver transplantation in childhood.
Burdelski M, Jürgens K, Budde M, Brölsch C, Neuhaus P, Pichlmayr R
Z Kinderchir 1985 Oct;40(5):268-9. doi: 10.1055/s-2008-1059791. PMID: 3907192
Neonatal cholestasis.
Balistreri WF
J Pediatr 1985 Feb;106(2):171-84. doi: 10.1016/s0022-3476(85)80282-1. PMID: 3881579

Clinical prediction guides

Successful living related liver transplantation in a case with biliary atresia associated with corrected transposition of the great arteries.
Kimura T, Hasegawa T, Ihara Y, Mushiake S, Kogaki S, Dono K, Fukuzawa M
Pediatr Transplant 2007 Aug;11(5):540-2. doi: 10.1111/j.1399-3046.2007.00699.x. PMID: 17631024
Familial atrophia maculosa varioliformis cutis.
Kalayciyan A, Kotogyan A, Demirkesen C, Tüzün Y
Int J Dermatol 2003 Jul;42(7):530-2. doi: 10.1046/j.1365-4362.2003.01781.x. PMID: 12839602
Unexpected life-threatening complications in Kabuki syndrome.
van Haelst MM, Brooks AS, Hoogeboom J, Wessels MW, Tibboel D, de Jongste JC, den Hollander JC, Bongers-Schokking JJ, Niermeijer MF, Willems PJ
Am J Med Genet 2000 Sep 11;94(2):170-3. doi: 10.1002/1096-8628(20000911)94:2<170::aid-ajmg10>3.0.co;2-2. PMID: 10982974
The influence of portoenterostomy with stoma on morbidity in pediatric patients with biliary atresia undergoing orthotopic liver transplantation.
Meister RK, Esquivel CO, Cox KL, Concepcion W, Berquist W, Nakazato P, deVries PA
J Pediatr Surg 1993 Mar;28(3):387-90. doi: 10.1016/0022-3468(93)90237-f. PMID: 8468652
Indications for liver transplantation in childhood.
Burdelski M, Jürgens K, Budde M, Brölsch C, Neuhaus P, Pichlmayr R
Z Kinderchir 1985 Oct;40(5):268-9. doi: 10.1055/s-2008-1059791. PMID: 3907192

Recent systematic reviews

The value of preoperative liver biopsy in the diagnosis of extrahepatic biliary atresia: A systematic review and meta-analysis.
Lee JY, Sullivan K, El Demellawy D, Nasr A
J Pediatr Surg 2016 May;51(5):753-61. Epub 2016 Feb 13 doi: 10.1016/j.jpedsurg.2016.02.016. PMID: 26932252
Etiologies of conjugated hyperbilirubinemia in infancy: a systematic review of 1692 subjects.
Gottesman LE, Del Vecchio MT, Aronoff SC
BMC Pediatr 2015 Nov 20;15:192. doi: 10.1186/s12887-015-0506-5. PMID: 26589959Free PMC Article

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