Fibrinogen storage disease without hypofibrinogenaemia associated with acute infection

Marucci, Gianluca; Morandi, Luca; Macchia, S.; Betts, Christine M.; Tardio, Maria Lucia; Monte, P. R. Dal; Pession, Annalisa; Foschini, Maria Pia

doi:10.1046/j.1365-2559.2003.01551.x

Cited by 24 publications

(12 citation statements)

References 10 publications

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“…19,21 It should be noted that rare cases of acquired hepatic fibrinogen storage disease have been reported in the literature. 22,23 For example, Simsek et al described a case that occurred in a 40-year-old woman secondary to estrogen therapy. 22 The patient presented with elevated serum liver enzyme levels, but her fibrinogen level was within normal limits.…”

Section: Discussionmentioning

confidence: 99%

Hepatic Fibrinogen Storage Disease in a Patient with Hypofibrinogenemia: Report of a Case with a Missense Mutation of the FGA Gene

et al. 2015

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We report a 9-year-old patient with abnormal liver tests found incidentally during routine bloodwork as part of a preoperative evaluation for excision of a benign cyst. A liver biopsy demonstrated hepatocytes to have pale and expanded cytoplasm that contained multiple vague globular eosinophilic inclusions. Electron microscopy showed fingerprint-like structures in the dilated cisternae of the rough endoplasmic reticulum, characteristic of fibrinogen. Whole exome sequencing identified a heterozygous missense mutation at codon 35 of the fibrinogen α (FGA) gene. No mutation was identified in the β or γ chains. His plasma fibrinogen levels were found to be decreased to 85 mg/dL (normal range 215-464). His family history was pertinent for his mother and maternal grandfather with hypofibrinogenemia. He had not had any significant bleeding episodes except for minor bruising over the shins. This case illustrates a rare etiology of storage disease that causes abnormal liver function tests.

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Section: Discussionmentioning

confidence: 99%

Hepatic Fibrinogen Storage Disease in a Patient with Hypofibrinogenemia: Report of a Case with a Missense Mutation of the FGA Gene

et al. 2015

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“…Fibrinogen may randomly accumulate in the liver and gives a ground-glass appearance to hepatocytes [3,4] in patients with hypofibrinogenemia. However, fibrinogen can cause ground-glass hepatocytes and storage disease in the absence of hypofibrinogenemia [12,13] as it has been observed in hepatocellular carcinoma as well [14]. Lafora's disease is manifested by seizures, dementia, and myoclonus.…”

Section: Discussionmentioning

confidence: 99%

Liver glycogen bodies: ground-glass hepatocytes in transplanted patients

et al. 2006

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Ground-glass hepatocytes have been described in Lafora's disease, fibrinogen deposition, hepatitis B, type IV glycogenosis, and alcohol aversion (cyanamide) therapy. We encountered ground-glass hepatocytes with intracytoplasmic inclusions in four liver biopsies from three transplanted patients who had none of the above-mentioned underlying diseases. One patient was a 4-year-old boy who had a kidney transplant for severe ureterovesical reflux. Patient 2 was a 52-year-old man who had two liver transplants because of hepatitis C. The third patient was a 7-month-old girl who underwent a multivisceral transplant because of necrotizing enterocolitis and liver failure induced by total parenteral nutrition. The patients developed liver abnormalities from 45 days to 4 years after their transplants. The livers showed conspicuous ground-glass hepatocytes in 90% of the children's samples and 30% of the adult liver cells. The cytoplasmic bodies stained strongly for Gomori methenamine-silver; they were positive for periodic acid-Schiff without diastase, but negative after diastase digestion. They were negative for colloidal iron and hepatitis B core and surface antigens. Electron microscopy revealed non-membrane bound aggregates of glycogen. Idiopathic ground-glass hepatocytes occur in transplanted patients and represent accumulation of altered glycogen. However, their clinical significance and cause are not entirely elucidated.

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“…Two other patients revealed fibrinogen storage in the liver during an acute infectious episode together with Type II inclusions. The latter were thought to have transient, acquired forms of the disease [ 9 ].…”

Section: Discussionmentioning

confidence: 99%

Fibrinogen storage disease without hypofibrinogenemia associated with estrogen therapy

et al. 2005

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Background: Cytoplasmic inclusion bodies within hepatocytes may have different etiologies, including the Endoplasmic Reticulum Storage Diseases (ERSDs). ERSD is a pathological condition characterized by abnormal accumulation of proteins destined for secretion in the endoplasmic reticulum of hepatocytes; it may be congenital (primary) or acquired (secondary). Fibrinogen storage disease is a form of ERSD.

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Fibrinogen storage disease without hypofibrinogenaemia associated with acute infection

Abstract: These cases suggest that, on rare occasions, hepatocytes may accumulate fibrinogen during an infectious disease.

Cited by 24 publications

References 10 publications

Hepatic Fibrinogen Storage Disease in a Patient with Hypofibrinogenemia: Report of a Case with a Missense Mutation of the FGA Gene

Hepatic Fibrinogen Storage Disease in a Patient with Hypofibrinogenemia: Report of a Case with a Missense Mutation of the FGA Gene

Liver glycogen bodies: ground-glass hepatocytes in transplanted patients

Fibrinogen storage disease without hypofibrinogenemia associated with estrogen therapy

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