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Hepatic fibrosis, severe, susceptibility to, due to schistosoma mansoni infection

MedGen UID:
349002
Concept ID:
C1858709
Finding
Synonyms: HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION; SM2
 
Cytogenetic location: 6q22-q23
OMIM®: 604201

Definition

Hepatointestinal schistosomiasis is caused by 2 species of helminths: Schistosoma japonicum, which is prevalent in Asia, and S. mansoni, which is prevalent in Africa and South America. Both worms develop in the host mesenteric system and lay eggs that trigger inflammation in the hepatic periportal space in which they are trapped. Worms live for years, and chronic liver inflammation and significant tissue destruction are therefore common in infected individuals. Tissue repair begins with deposition of extracellular matrix proteins (ECMPs) in the damaged tissues, which are later replaced by normal hepatocytes. In some individuals, ECMPs accumulate in the periportal space, forming fibrosis deposits that reduce blood flow and cause varicose veins. These individuals may die from the subsequent effects of hepatic fibrosis. About 5 to 10% of the 350 million infected individuals develop severe hepatic fibrosis. Development of hepatic fibrosis in schistosome-infected individuals is influenced by a locus on chromosome 6q23, designated SM2, which contains 2 major candidate genes: IFNGR1 (107470), which encodes a chain of the receptor for interferon-gamma (IFNG; 147570), and CTGF (121009), which encodes a profibrogenic molecule produced by hepatocytes (summary by Dessein et al., 2009). [from OMIM]

Recent clinical studies

Etiology

Abruzzi A, Fried B, Alikhan SB
Adv Parasitol 2016;91:111-231. Epub 2016 Feb 5 doi: 10.1016/bs.apar.2015.12.003. PMID: 27015949
El-Moamly AA, El-Sweify MA, Rashad RM, Abdalla EM, Ragheb MM, Awad MM
Parasitol Res 2013 Jul;112(7):2745-52. Epub 2013 Mar 21 doi: 10.1007/s00436-013-3380-9. PMID: 23515570
Dessein A, Chevillard C, Arnaud V, Hou X, Hamdoun AA, Dessein H, He H, Abdelmaboud SA, Luo X, Li J, Varoquaux A, Mergani A, Abdelwahed M, Zhou J, Monis A, Pitta MG, Gasmelseed N, Cabantous S, Zhao Y, Prata A, Brandt C, Elwali NE, Argiro L, Li Y
J Exp Med 2009 Oct 26;206(11):2321-8. Epub 2009 Oct 12 doi: 10.1084/jem.20090383. PMID: 19822645Free PMC Article
Ellis MK, Li Y, Hou X, Chen H, McManus DP
Int J Parasitol 2008 May;38(6):717-23. Epub 2007 Oct 12 doi: 10.1016/j.ijpara.2007.09.013. PMID: 18001742Free PMC Article
Chevillard C, Moukoko CE, Elwali NE, Bream JH, Kouriba B, Argiro L, Rahoud S, Mergani A, Henri S, Gaudart J, Mohamed-Ali Q, Young HA, Dessein AJ
J Immunol 2003 Nov 15;171(10):5596-601. PMID: 14607968

Diagnosis

El-Moamly AA, El-Sweify MA, Rashad RM, Abdalla EM, Ragheb MM, Awad MM
Parasitol Res 2013 Jul;112(7):2745-52. Epub 2013 Mar 21 doi: 10.1007/s00436-013-3380-9. PMID: 23515570
Ellis MK, Li Y, Hou X, Chen H, McManus DP
Int J Parasitol 2008 May;38(6):717-23. Epub 2007 Oct 12 doi: 10.1016/j.ijpara.2007.09.013. PMID: 18001742Free PMC Article

Prognosis

Abruzzi A, Fried B, Alikhan SB
Adv Parasitol 2016;91:111-231. Epub 2016 Feb 5 doi: 10.1016/bs.apar.2015.12.003. PMID: 27015949
Dessein A, Chevillard C, Arnaud V, Hou X, Hamdoun AA, Dessein H, He H, Abdelmaboud SA, Luo X, Li J, Varoquaux A, Mergani A, Abdelwahed M, Zhou J, Monis A, Pitta MG, Gasmelseed N, Cabantous S, Zhao Y, Prata A, Brandt C, Elwali NE, Argiro L, Li Y
J Exp Med 2009 Oct 26;206(11):2321-8. Epub 2009 Oct 12 doi: 10.1084/jem.20090383. PMID: 19822645Free PMC Article

Clinical prediction guides

Abruzzi A, Fried B, Alikhan SB
Adv Parasitol 2016;91:111-231. Epub 2016 Feb 5 doi: 10.1016/bs.apar.2015.12.003. PMID: 27015949
El-Moamly AA, El-Sweify MA, Rashad RM, Abdalla EM, Ragheb MM, Awad MM
Parasitol Res 2013 Jul;112(7):2745-52. Epub 2013 Mar 21 doi: 10.1007/s00436-013-3380-9. PMID: 23515570
Chevillard C, Moukoko CE, Elwali NE, Bream JH, Kouriba B, Argiro L, Rahoud S, Mergani A, Henri S, Gaudart J, Mohamed-Ali Q, Young HA, Dessein AJ
J Immunol 2003 Nov 15;171(10):5596-601. PMID: 14607968
Mohamed-Ali Q, Elwali NE, Abdelhameed AA, Mergani A, Rahoud S, Elagib KE, Saeed OK, Abel L, Magzoub MM, Dessein AJ
J Infect Dis 1999 Oct;180(4):1298-306. doi: 10.1086/314999. PMID: 10479161
Dessein AJ, Hillaire D, Elwali NE, Marquet S, Mohamed-Ali Q, Mirghani A, Henri S, Abdelhameed AA, Saeed OK, Magzoub MM, Abel L
Am J Hum Genet 1999 Sep;65(3):709-21. doi: 10.1086/302526. PMID: 10441577Free PMC Article

Recent systematic reviews

Abruzzi A, Fried B, Alikhan SB
Adv Parasitol 2016;91:111-231. Epub 2016 Feb 5 doi: 10.1016/bs.apar.2015.12.003. PMID: 27015949

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