scholarly journals Primary Biliary Cirrhosis: Family Stories

2011 ◽  
Vol 2011 ◽  
pp. 1-11 ◽  
Author(s):  
Daniel Smyk ◽  
Evangelos Cholongitas ◽  
Stephen Kriese ◽  
Eirini I. Rigopoulou ◽  
Dimitrios P. Bogdanos
Keyword(s):  
Primary Biliary Cirrhosis ◽  
Monozygotic Twins ◽  
Twin Studies ◽  
Cholestatic Liver Disease ◽  
Biliary Cirrhosis ◽  
Family Stories ◽  
Immune Mediated ◽  
Increased Risk ◽  
Environmental Component ◽  
High Concordance

Primary biliary cirrhosis (PBC) is a chronic immune-mediated cholestatic liver disease of unknown aetiology which affects mostly women in middle age. Familial PBC is when PBC affects more than one member of the same family, and data suggest that first-degree relatives of PBC patients have an increased risk of developing the disease. Most often, these familial clusters involve mother-daughter pairs, which is consistent with the female preponderance of the disease. These clusters provide evidence towards a genetic basis underlying PBC. However, clusters of nonrelated individuals have also been reported, giving strength to an environmental component. Twin studies have demonstrated a high concordance for PBC in monozygotic twins and a low concordance among dizygotic twins. In conclusion, studies of PBC in families clearly demonstrate that genetic, epigenetic, and environmental factors play a role in the development of the disease.

scholarly journals Infectious Agents and Xenobiotics in the Etiology of Primary Biliary Cirrhosis

2010 ◽  
Vol 29 (6) ◽  
pp. 287-299 ◽  
Author(s):  
Carlo Selmi ◽  
Maria De Santis ◽  
Francesca Cavaciocchi ◽  
M. Eric Gershwin
Keyword(s):  
Primary Biliary Cirrhosis ◽  
Latitudinal Gradient ◽  
Monozygotic Twins ◽  
Review Article ◽  
Mitochondrial Proteins ◽  
Cholestatic Liver Disease ◽  
Biliary Cirrhosis ◽  
Infectious Agents ◽  
Environmental Stimulation ◽  
High Concordance

Primary biliary cirrhosis (PBC)is a chronic autoimmune cholestatic liver disease that manifests a latitudinal gradient in prevalence and incidence. The mechanisms leading to the initiation and perpetuation of PBC remain largely enigmatic, although it is established that a combination of genetic predisposition and environmental stimulation is required. PBC is also characterized by a high concordance rate in monozygotic twins and is considered a model autoimmune disease because of several features common to other conditions and the relatively homogeneous serological and biochemical features. From a diagnostic standpoint, PBC is characterized by the highest specificity of serum autoantibodies directed at mitochondrial proteins. Several risk factors have been suggested to be associated with PBC, including exposure to infectious agents and chemical xenobiotics that will be critically discussed in the present review article.

scholarly journals Environmental Agents Involved in the Cause of Primary Biliary Cirrhosis

2010 ◽  
Vol 29 (6) ◽  
pp. 329-336 ◽  
Author(s):  
Elias Kouroumalis
Keyword(s):  
Primary Biliary Cirrhosis ◽  
Environmental Factors ◽  
Monozygotic Twins ◽  
Cholestatic Liver Disease ◽  
Biliary Cirrhosis ◽  
Infectious Agents ◽  
Immune Mediated ◽  
Environmental Agents ◽  
Autoimmune Conditions ◽  
Genetic And Environmental Factors

Primary biliary cirrhosis (PBC) is an immune mediated chronic cholestatic liver disease with a slowly progressive course It is a universal disease with a reported latitudinal gradient in prevalence and incidence. The aetiology of primary biliary cirrhosis is still unknown. It is characterized by a 60% concordance in monozygotic twins and is considered an autoimmune disease because of several features common to other autoimmune conditions and the relatively homogeneous serological and biochemical features. However geoepidemiological and clinical studies strongly imply that environmental factors also play an important role. It is accepted that the disease is clearly the result of a combination of genetic and environmental factors. Several risk factors have been suggested to be associated with PBC, including exposure to infectious agents and chemical xenobiotics. This review will attempt to place such factors in perspective.

Primary biliary cirrhosis

2010 ◽  
pp. 2464-2468
Author(s):  
M.F. Bassendine ◽  
D.E.J. Jones
Keyword(s):  
Liver Disease ◽  
Epithelial Cells ◽  
Primary Biliary Cirrhosis ◽  
Case History ◽  
Bile Ducts ◽  
Cholestatic Liver Disease ◽  
Biliary Cirrhosis ◽  
Blood Tests ◽  
Intrahepatic Bile Ducts ◽  
Immune Mediated

Case History—A 60 yr old woman presenting with abnormal liver blood tests. Primary biliary cirrhosis is a chronic, cholestatic liver disease in which the biliary epithelial cells lining the small intrahepatic bile ducts are the target for immune-mediated damage leading to progressive ductopenia. The cause is unknown, but presumed to be autoimmune....

scholarly journals PBC Triggers in Water Reservoirs, Coal Mining Areas and Waste Disposal Sites: From Newcastle to New York

2010 ◽  
Vol 29 (6) ◽  
pp. 337-344 ◽  
Author(s):  
Daniel Smyk ◽  
Maria G. Mytilinaiou ◽  
Eirini I. Rigopoulou ◽  
Dimitrios P. Bogdanos
Keyword(s):  
New York ◽  
Primary Biliary Cirrhosis ◽  
Environmental Factors ◽  
Coal Mining ◽  
Waste Disposal ◽  
Geographical Area ◽  
Water Reservoir ◽  
Cholestatic Liver Disease ◽  
Biliary Cirrhosis ◽  
Increased Risk

Various environmental factors have been proposed as triggers of primary biliary cirrhosis (PBC), a progressive autoimmune cholestatic liver disease which is characterised by the destruction of the small intrahepatic bile ducts. Support for their pathogenic role in PBC is provided by epidemiological studies reporting familial clustering and clusters of the disease within a given geographical area. The seminal study by Triger reporting that the great majority of PBC cases in the English city of Sheffield drank water from a specific water reservoir, has been followed by studies reporting disease 'hot spots' within a restricted geographic region of the former coal mining area of Newcastle. The New York study reporting an increased risk and significant clustering of PBC cases near toxic federal waste disposal sites has added strength to the notion that environmental factors, possibly in the form of infectious agents or toxic/chemical environmental factors in areas of contaminated land, water or polluted air may play a key role in the development of the disease. This review discusses the findings of reports investigating environmental factors which may contribute to the cause of primary biliary cirrhosis.

A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis

2020 ◽  
Vol 33 (5) ◽  
pp. 665-669
Author(s):  
Aynur Küçükçongar Yavaş ◽  
Büşra Çavdarlı ◽  
Özlem Ünal Uzun ◽  
Ayşen Uncuoğlu ◽  
Mehmet Gündüz
Keyword(s):  
Primary Biliary Cirrhosis ◽  
Intrahepatic Cholestasis ◽  
Density Lipoprotein ◽  
Etiologic Factor ◽  
Compound Heterozygous ◽  
Cholestatic Liver Disease ◽  
Biliary Cirrhosis ◽  
Progressive Familial Intrahepatic Cholestasis ◽  
Turkish Patient ◽  
Type 3

AbstractBackgroundProgressive familial intrahepatic cholestasis type 3 (PFIC3) is an uncommon cholestatic liver disease caused by mutations in the ATP binding cassette subfamily B member 4 (ABCB4) gene. Although PFIC3 is frequently identified in childhood, ABCB4 disease-causing alleles have been described in adults affected by intrahepatic cholestasis of pregnancy, hormone-induced cholestasis, low-phospholipid-associated cholelithiasis syndrome or juvenile cholelithiasis, cholangiocarcinoma and in sporadic forms of primary biliary cirrhosis. Cholestanol is a biomarker which is elevated especially in cerebrotendinous xanthomatosis and rarely in primary biliary cirrhosis (PBC) and Niemann Pick type C.Case presentationHere we report a Turkish patient with compound heterozygous mutations in the ABCB4 gene, who has hepatosplenomegaly, low level of high-density lipoprotein, cholestasis and high level of cholestanol.ConclusionThis is the first PFIC3 case with a high cholestanol level described in the literature. There are very few diseases linked to increased cholestanol levels, two of which are CTX and PBC. From this case, we can conclude that a high cholestanol level might be another indicator of PFIC type 3.

Primary Biliary Cirrhosis

2015 ◽  
Author(s):  
Daniel S. Pratt ◽  
Lindsay Y. King
Keyword(s):  
Differential Diagnosis ◽  
Liver Disease ◽  
Primary Biliary Cirrhosis ◽  
Liver Diseases ◽  
American Association ◽  
Cholestatic Liver Disease ◽  
Biliary Cirrhosis ◽  
Common Cause ◽  
History Of

Primary biliary cirrhosis (PBC) is a progressive autoimmune disease of the liver. It is the most common cause of chronic intrahepatic cholestatic liver disease in adults. This review addresses the epidemiology, etiology and genetics, pathophysiology and pathogenesis, diagnosis, differential diagnosis, treatment, complications, and prognosis of PBC. Figures show the pathogenesis and natural history of PBC and histologic features of the four stages of PBC. Tables list diagnostic criteria for PBC via the American Association for the Study of Liver Diseases, differential diagnosis for PBC, medications used to treat PBC, secondary therapy for PBC, and follow-up of patients with PBC. This review contains 2 highly rendered figures, 5 tables, and 45 references.

scholarly journals Primary biliary cirrhosis and myopathy: an uncommon association

1999 ◽  
Vol 54 (5) ◽  
pp. 165-168 ◽  
Author(s):  
Bruno Cupertino Migueletto ◽  
Abrahão Elias Hallack Neto ◽  
Elaine Zamora Domingues ◽  
Pedro Paulo Neves de Castro ◽  
Hartmut Stocker ◽  
...  
Keyword(s):  
Liver Disease ◽  
Primary Biliary Cirrhosis ◽  
Bile Ducts ◽  
Cholestatic Liver Disease ◽  
Biliary Cirrhosis ◽  
Muscular Weakness ◽  
Muscular Diseases ◽  
Histological Features ◽  
Intrahepatic Bile Ducts ◽  
Organ Systems

Primary biliary cirrhosis (PBC) is a cholestatic liver disease, which is characterized by a chronic inflammatory destruction of intrahepatic bile ducts. It is a rare disorder whose precise etiology is still to be elucidated. Even though the liver is the principal target of PBC, other organ systems also might be affected. Muscular involvement has rarely been described in this disease, and in the majority of cases, muscular weakness has been interpreted as polymyositis. We report the case of a 48-year-old woman suffering from classic PBC, in association with a myopathy whose histological features are distinct from the cases reported before. We also performed a MEDLINE research for PBC and concomitant muscular diseases.

T-Cell Autoimmunity in Primary Biliary Cirrhosis

1996 ◽  
Vol 91 (5) ◽  
pp. 551-558 ◽  
Author(s):  
David E. J. Jones
Keyword(s):  
T Cells ◽  
Liver Disease ◽  
T Cell ◽  
Primary Biliary Cirrhosis ◽  
Portal Tract ◽  
Cholestatic Liver Disease ◽  
Biliary Cirrhosis ◽  
Early Stage Disease ◽  
Control Subjects ◽  
Autoreactive Cells

1. Primary biliary cirrhosis is a chronic cholestatic liver disease with an autoimmune aetiology. The classical histopathological lesion, of portal tract biliary epithelial cell damage, is accompanied by a T-cell-rich mononuclear cell infiltrate and upregulation of cell surface markers suggestive of local T-cell activation and cytokine release. This suggests that T-cell mediated mechanisms play an important role in tissue damage in primary biliary cirrhosis. 2. CD4+ T-cells specific for the E2 component of human pyruvate dehydrogenase complex (PDC-E2), a highly conserved enzyme which plays a critical role in intermediate metabolism, are present in the peripheral repertoire of the majority of patients with primary biliary cirrhosis. These cells are almost entirely absent from normal and chronic liver disease control subjects. The observations that peripheral blood PDC-E2-specific cells are most commonly seen in early stage disease, when active bile duct damage is occurring, and that PDC-E2-specific cells can be found in the portal tract infiltrate at times when this damage is occurring, suggest that these autoreactive cells may have a role to play in the aetiology of primary biliary cirrhosis. 3. T-cells specific for the whole PDC and its E1 component are seen in significant numbers of normal control subjects as well as patients with primary biliary cirrhosis. Retention of potentially autoreactive cells in the normal T-cell repertoire has been reported for a number of other autoantigens. 4. T-cell epitopes appear to be widely distributed throughout PDC-E2. This is in contrast to the B-cell epitopes which are highly restricted to the inner lipoyl binding domain of the protein.

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