Hepatocellular fibrinogen storage in familial hypofibrinogenemia

Pfeifer, U; Ormanns, W; Klinge, O

doi:10.1007/bf02912070

Cited by 47 publications

(37 citation statements)

References 11 publications

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“…One son developed deep jaundice, abdominal pain, and weight loss at 37 years of age. Investigations showed a haemoglobin of 136 g/litre (normal 120-145), bilirubin 171 µmol/litre (2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18), alkaline phosphatase 776 IU/litre (normal 30-110), and aspartate transaminase 110 IU/litre (10-40); hepatitis B surface antigen was negative. On abdominal ultrasonography there was a dilated intrahepatic and extrahepatic biliary tree, while percutaneous transhepatic cholangiography showed obstruction at the lower common bile duct.…”

Section: Clinical Resultsmentioning

confidence: 99%

“…The pathogenesis of the disease suggests a molecular abnormality hindering the translocation of the abnormal protein from the rough to the smooth endoplasmic reticulum. 12 13 We discovered a family with this disorder when one member underwent liver biopsy for the investigation of a persistently raised transaminase. Four members of the family were found to have intracytoplasmic hyaline inclusions within their hepatocytes.…”

Section: Discussionmentioning

confidence: 99%

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Pancreatic cancer and fibrinogen storage disease.

Radhi

Lukie

1998

J Clin Pathol

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Background-Ductal adenocarcinoma is the most common type of pancreatic carcinoma while squamous, carcinosarcoma, sarcoma, giant cell carcinoma, and clear cell types are all rare. Hepatocellular fibrinogen storage disease is also an uncommon disorder which may be associated with hepatocellular carcinoma. Two cases of pancreatic carcinoma were encountered in a family with fibrinogen storage disease, further raising the possibility of a predilection to malignancy in this unusual disorder. The tumour in one case was of the rare clear cell type. These two cases are the basis for this report. Methods-Sections were cut from retrieved paraYn embedded tissue and stained for routine histology. Immunohistochemistry using the avidin-biotin technique was applied for the expression of the markers p53 (D07), carcinoembryonic antigen (CEA), c-erbB-2, epithelial membrane antigen (EMA), and -fetoprotein (AFP). Results-Both cases were adenocarcinoma of pancreatic ductal origin. The tumour in one case showed features of a clear cell carcinoma. The tumour cells expressed p53, CEA, and EMA immunoreactivity and were negative for c-erbB-2 and AFP. Conclusions-Hepatocellular fibrinogen storage disease is rare and has been described in association with chronic hepatitis, cirrhosis, and rarely with hepatocellular carcinoma. This represents the first report of its association with carcinoma outside of the liver. (J Clin Pathol 1998;51:865-867)

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Section: Clinical Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Pancreatic cancer and fibrinogen storage disease.

Radhi

Lukie

1998

J Clin Pathol

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“…The most common example of the latter condition is α 1 ‐antitrypsin deficiency 1 . Recently, congenital retention of fibrinogen has been described 1–5 . In these patients fibrinogen retained by hepatocytes was present histologically as eosinophilic cytoplasmic inclusions, which gave the appearance of ground glass hepatocytes.…”

Section: Introductionmentioning

confidence: 99%

Fibrinogen storage disease without hypofibrinogenaemia associated with acute infection

et al. 2002

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“…[12] However, definite evidence for a genetic basis of the storage phenomenon came from an Italian family identified in 1987 in which a mutation in the γ-fibrinogen chain (284Gly → Arg, fibrinogen Brescia) was found to be the cause of the conformational abnormality of the molecule, leading to aggregation of the mutant protein within the RER. [13] The fibrinogen Brescia mutation had remained solitary until the discovery of other mutations, designated Aguadilla,[4] Angers,[5] and AI duPont,[6] which were observed in Caribbean, French, and US families, respectively.…”

Section: Discussionmentioning

confidence: 99%

Hepatic fibrinogen storage disease due to the fibrinogen γ375 Arg → Trp mutation "fibrinogen aguadilla" is present in Arabs

Al–Hussaini

Altalhi

Hag

et al. 2014

Saudi J Gastroenterol

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The mutation γ375Arg → Trp (fibrinogen Aguadilla) is one of four mutations (Brescia, Aguadilla, Angers, and AI duPont) capable of causing hepatic storage of fibrinogen. It has been observed in four children from the Caribbean, Europe, and Japan, suffering from cryptogenic liver disease. We report the first case of hepatic fibrinogen storage disease in Arabs due to a mutation in the fibrinogen γ-chain gene in a 3-year-old Syrian girl presenting with elevated liver enzymes. The finding of an impressive accumulation of fibrinogen in liver cells raised the suspicion of endoplasmic reticulum storage disease. Sequencing of the fibrinogen genes revealed a γ375Arg → Trp mutation (fibrinogen Aguadilla) in the child and in her father. In conclusion, when confronted with chronic hepatitis of unknown origin, one should check the plasma fibrinogen level and look carefully for the presence of hepatocellular intracytoplasmic globular inclusions to exclude hepatic fibrinogen storage disease.

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Hepatocellular fibrinogen storage in familial hypofibrinogenemia

Cited by 47 publications

References 11 publications

Pancreatic cancer and fibrinogen storage disease.

Pancreatic cancer and fibrinogen storage disease.

Fibrinogen storage disease without hypofibrinogenaemia associated with acute infection

Hepatic fibrinogen storage disease due to the fibrinogen γ375 Arg → Trp mutation "fibrinogen aguadilla" is present in Arabs

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