Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Congenital Hepatic Fibrosis Clinical Presentation

  • Author: Hisham Nazer, MB, BCh, FRCP, , DTM&H; Chief Editor: Carmen Cuffari, MD  more...
 
Updated: Aug 21, 2015
 

History

The onset of congenital hepatic fibrosis (CHF) symptoms varies in spectrum and severity. Patients usually develop nonspecific symptoms, making the initial diagnosis difficult. The age at presentation may range from early childhood to the fifth decade of life. However, most cases however are diagnosed during adolescence and early adulthood.

  • Congenital hepatic fibrosis has 4 different forms: portal hypertensive (most common), cholangitic, mixed, and latent. Patients in the portal hypertensive group often present with esophageal variceal hemorrhage. Those with the cholangitic form have characteristic cholestasis and recurrent cholangitis. Patients with the latent form present at an older age or are diagnosed as an incidental finding.
  • Most patients initially manifest with symptoms and signs of portal hypertension. These include hematemesis and melena.
  • When hepatic lesions dominate the clinical expression of the disease, the affected child may remain asymptomatic for years before evidence of hepatic involvement manifests as a sequela of portal hypertension with repeated episodes of GI bleeding of varying severity.
  • Rarely, patients may present with abdominal pain localized to the right upper quadrant.
  • The presentation of children with congenital hepatic fibrosis–autosomal recessive polycystic kidney disease (ARPKD) also varies, depending on the severity of kidney and liver disease.[11]
Next

Physical

See the list below:

  • Hepatomegaly is present in nearly all patients with predominant involvement of the left lobe. Upon palpation, the liver is firm, and its surface is smooth or finely nodular. The liver edge is sometimes irregular, suggesting cirrhosis.
  • In most patients, splenomegaly is associated with evidence of hypersplenism.
  • Nephromegaly is a common finding during a physical examination in patients with congenital hepatic fibrosis and ARPKD.
  • Abdominal pain is rare; when present, it is usually localized to the right upper quadrant.
Previous
Next

Causes

See the list below:

  • Congenital hepatic fibrosis is an autosomal recessive disorder.
  • No definite cause or causative agent has been identified.
  • Transforming growth factor-1 and thrombospondin-1 may play a role in the pathogenesis of liver fibrosis in patients with congenital hepatic fibrosis.[12]
  • Abundant connective tissue growth factor retained diffusely in heparan sulfate proteoglycan in the fibrous portal tracts or septa may be responsible for nonresolving hepatic fibrosis in congenital hepatic fibrosis.[13]
Previous
 
 
Contributor Information and Disclosures
Author

Hisham Nazer, MB, BCh, FRCP, , DTM&H Professor of Pediatrics, Consultant in Pediatric Gastroenterology, Hepatology and Clinical Nutrition, University of Jordan Faculty of Medicine, Jordan

Hisham Nazer, MB, BCh, FRCP, , DTM&H is a member of the following medical societies: American Association for Physician Leadership, Royal College of Paediatrics and Child Health, Royal College of Surgeons in Ireland, Royal Society of Tropical Medicine and Hygiene, Royal College of Physicians and Surgeons of the United Kingdom

Disclosure: Nothing to disclose.

Coauthor(s)

Dena Nazer, MD, FAAP Assistant Professor of Pediatrics, Wayne State University School of Medicine; Chief, Child Protection Team, Children's Hospital of Michigan

Dena Nazer, MD, FAAP is a member of the following medical societies: Academic Pediatric Association, American Academy of Pediatrics, American Professional Society on the Abuse of Children, Ray E Helfer Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Carmen Cuffari, MD Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine

Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, Royal College of Physicians and Surgeons of Canada

Disclosure: Received honoraria from Prometheus Laboratories for speaking and teaching; Received honoraria from Abbott Nutritionals for speaking and teaching.

Additional Contributors

Chris A Liacouras, MD Director of Pediatric Endoscopy, Division of Gastroenterology and Nutrition, Children's Hospital of Philadelphia; Associate Professor of Pediatrics, University of Pennsylvania School of Medicine

Chris A Liacouras, MD is a member of the following medical societies: American Gastroenterological Association

Disclosure: Nothing to disclose.

References
  1. Lipschitz B, Berdon WE, Defelice AR, Levy J. Association of congenital hepatic fibrosis with autosomal dominant polycystic kidney disease. Report of a family with review of literature. Pediatr Radiol. 1993. 23(2):131-3. [Medline].

  2. Hoyer PF. Clinical manifestations of autosomal recessive polycystic kidney disease. Curr Opin Pediatr. 2015 Apr. 27 (2):186-92. [Medline].

  3. Bristowe F. Cystic disease of the liver associated with similar disease of the kidney. Trans Pathol Soc Lond. 1856. 5:229.

  4. Kerr DN, Harrison CV, Sherlock S, Walker RM. Congenital hepatic fibrosis. Q J Med. 1961 Jan. 30:91-117. [Medline].

  5. O'Brien K, Font-Montgomery E, Lukose L, Bryant J, Piwnica-Worms K, Edwards H, et al. Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease. J Pediatr Gastroenterol Nutr. 2012 Jan. 54 (1):83-9. [Medline].

  6. Akhan O, Karaosmanoglu AD, Ergen B. Imaging findings in congenital hepatic fibrosis. Eur J Radiol. 2007 Jan. 61(1):18-24. [Medline].

  7. Desmet VJ. Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation". Hepatology. 1992 Oct. 16(4):1069-83. [Medline].

  8. Harris PC, Rossetti S. Molecular genetics of autosomal recessive polycystic kidney disease. Mol Genet Metab. 2004 Feb. 81(2):75-85. [Medline].

  9. Losekoot M, Haarloo C, Ruivenkamp C, et al. Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD). Hum Genet. 2005 Nov. 118(2):185-206. [Medline].

  10. Turkbey B, Ocak I, Daryanani K,et al. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatr Radiol. 2009 Feb. 39(2):100-11. [Medline].

  11. Hartung EA, Guay-Woodford LM. Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects. Pediatrics. 2014 Sep. 134 (3):e833-45. [Medline].

  12. El-Youssef M, Mu Y, Huang L, et al. Increased expression of transforming growth factor-beta1 and thrombospondin-1 in congenital hepatic fibrosis: possible role of the hepatic stellate cell. J Pediatr Gastroenterol Nutr. 1999 Apr. 28(4):386-92. [Medline].

  13. Ozaki S, Sato Y, Yasoshima M, et al. Diffuse expression of heparan sulfate proteoglycan and connective tissue growth factor in fibrous septa with many mast cells relate to unresolving hepatic fibrosis of congenital hepatic fibrosis. Liver Int. 2005 Aug. 25(4):817-28. [Medline].

  14. Abdullah AM, Nazer H, Atiyeh M, Ali MA. Congenital hepatic fibrosis in Saudi Arabia. J Trop Pediatr. 1991 Oct. 37(5):240-3. [Medline].

  15. Ovchinsky N, Moreira RK, Lefkowitch JH, Lavine JE. Liver biopsy in modern clinical practice: a pediatric point-of-view. Adv Anat Pathol. 2012 Jul. 19 (4):250-62. [Medline].

  16. Al-Lawati TT. Fibropolycystic disease of the liver and kidney in Oman. Arab J Gastroenterol. 2013 Dec. 14 (4):173-5. [Medline].

  17. Arikan C, Ozgenc F, Akman SA, et al. Impact of liver transplantation on renal function of patients with congenital hepatic fibrosis associated with autosomal recessive polycystic kidney disease. Pediatr Transplant. 2004 Dec. 8(6):558-60. [Medline].

  18. Dagli U, Atalay F, Sasmaz N, et al. Caroli's disease: 1977-1995 experiences. Eur J Gastroenterol Hepatol. 1998 Feb. 10(2):109-12. [Medline].

  19. Al-Bhalal L, Akhtar M. Molecular basis of autosomal recessive polycystic kidney disease (ARPKD). Adv Anat Pathol. 2008 Jan. 15(1):54-8. [Medline].

  20. Ananthakrishnan AN, Saeian K. Caroli's disease: identification and treatment strategy. Curr Gastroenterol Rep. 2007 Apr. 9(2):151-5. [Medline].

  21. Braga AC, Calheno A, Rocha H, Lourenco-Gomes J. Caroli's disease with congenital hepatic fibrosis and medullary sponge kidney. J Pediatr Gastroenterol Nutr. 1994 Nov. 19(4):464-7. [Medline].

  22. Brancatelli G, Federle MP, Vilgrain V, et al. Fibropolycystic liver disease: CT and MR imaging findings. Radiographics. 2005 May-Jun. 25(3):659-70. [Medline].

  23. Gocmen R, Akhan O, Talim B. Congenital absence of the portal vein associated with congenital hepatic fibrosis. Pediatr Radiol. 2007 Sep. 37(9):920-4. [Medline].

  24. Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman Gerstein M, Piwnica-Worms K, Choyke P. Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. Gastroenterology. 2013 Jan. 144(1):112-121.e2. [Medline].

  25. Gunay-Aygun M, Tuchman M, Font-Montgomery E, et al. PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. Mol Genet Metab. 2010 Feb. 99(2):160-73. [Medline].

  26. Ling SC. Congenital cholestatic syndromes: what happens when children grow up?. Can J Gastroenterol. 2007 Nov. 21(11):743-51. [Medline].

  27. McEvoy CF, Suchy FJ. Biliary tract disease in children. Pediatr Clin North Am. 1996 Feb. 43(1):75-98. [Medline].

  28. Miller WJ, Sechtin AG, Campbell WL, Pieters PC. Imaging findings in Caroli's disease. AJR Am J Roentgenol. 1995 Aug. 165(2):333-7. [Medline].

  29. Nakanuma Y, Harada K, Sato Y, Ikeda H. Recent progress in the etiopathogenesis of pediatric biliary disease, particularly Caroli's disease with congenital hepatic fibrosis and biliary atresia. Histol Histopathol. 2010 Feb. 25(2):223-35. [Medline].

  30. Nazer D, Nazer H. Congenital Hepatic Fibrosis. Elzouki, Harfi, Nazer, Stapleton, et al. Textbook of Clinical Pediatrics. 2nd. Berlin-Heidelberg: Springer-Verlag; 2012. 3: 2013-16; Chapter 208.

  31. Poala SB, Bisogno G, Colombatti R. Thrombocytopenia and splenomegaly: an unusual presentation of congenital hepatic fibrosis. Orphanet J Rare Dis. 2010. 5:4. [Medline].

  32. Shorbagi A, Bayraktar Y. Experience of a single center with congenital hepatic fibrosis: a review of the literature. World J Gastroenterol. 2010 Feb 14. 16(6):683-90. [Medline]. [Full Text].

  33. Srinath A, Shneider BL. Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease. J Pediatr Gastroenterol Nutr. 2012 May. 54(5):580-7. [Medline].

  34. Suchy FJ. Liver disease in children. Mosby Yearbook. St Louis, MO: Mosby Year Book Inc; 1994.

  35. Yonem O, Ozkayar N, Balkanci F, et al. Is congenital hepatic fibrosis a pure liver disease?. Am J Gastroenterol. 2006 Jun. 101(6):1253-9. [Medline].

Previous
Next
 
Histopathology of liver biopsy in congenital hepatic fibrosis, which shows a widened portal tract with bands of fibrous tissue that separate areas of normal hepatic parenchyma. Note the multiple irregularly shaped narrow and elongated bile ducts and the absent lobular and portal inflammation.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.