Recurrent Spontaneous Intracerebral Hemorrhage in a Congenitally Afibrinogenemic Patient

Henselmans, J.M.L.; Meijer, Karina; Haaxma, R.; Hew, Joffre M.; Meer, J. van der

doi:10.1161/01.str.30.11.2479

Cited by 34 publications

(32 citation statements)

References 8 publications

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“…In afibrinogenemia, LMWH (15,000 anti-factor Xa activity units twice daily) has been used to prevent thromboembolism [32]. LMWH thromboprophylaxis has also been pursued in dysfibrinogenemia [33].…”

Section: Anticoagulant Therapymentioning

confidence: 99%

“…Fibrinogen concentrate may reduce the risk of thrombosis in IFD patients compared with cryoprecipitate because, unlike cryoprecipitate and plasma, it does not contain coagulation factors other than fibrinogen (e.g. factor VIII, vWF) [5,32,36]. In afibrinogenemia with elevated prothrombin activation, fibrinogen concentrate has been shown to reduce the level of prothrombin activation [37].…”

Section: Fibrinogen Replacement Therapymentioning

confidence: 99%

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Thrombosis in Inherited Fibrinogen Disorders

Korte¹,

Poon

Iorio

et al. 2017

Transfus Med Hemother

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Although inherited fibrinogen disorders (IFD) are primarily considered to be bleeding disorders, they are associated with a higher thrombotic complication risk than defects in other clotting factors. Managing IFD patients with thrombosis is challenging as anticoagulant treatment may exacerbate the underlying bleeding risk which can be life-threatening. Due to the low prevalence of IFD, there is little information on pathophysiology or optimal treatment of thrombosis in these patients. We searched the literature for cases of thrombosis among IFD patients and identified a total of 128 patient reports. In approximately half of the cases, thromboses were spontaneous, while in the others trauma, surgery, and parturition contributed to the risk. The true mechanism(s) of thrombosis in IFD patients remain to be elucidated. A variety of anticoagulant treatments have been used in the treatment or prevention of thrombosis, sometimes with concurrent fibrinogen replacement therapy. There is no definite evidence that fibrinogen supplementation increases the risk of thrombosis, and it may potentially be effective in the treatment and prevention of both thrombosis and hemorrhage in IFD patients.

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Section: Anticoagulant Therapymentioning

confidence: 99%

Section: Fibrinogen Replacement Therapymentioning

confidence: 99%

Thrombosis in Inherited Fibrinogen Disorders

Korte¹,

Poon

Iorio

et al. 2017

Transfus Med Hemother

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“…The number of embolized thrombi was six-fold higher in the FgÀ/À mice than that in wild-type mice, with large emboli very often leading to vessel occlusion. Abnormal clot formation in the absence of fibrin may lead to an aberrant, e.g., isodense appearance of intraparenchymal bleeding on CT scan [Henselmans et al, 1999].…”

Section: Clinical Featuresmentioning

confidence: 99%

Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations

Neerman-Arbez

Moerloose

2007

Hum. Mutat.

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Communicated by Arupa GangulyFibrinogen is synthesized in hepatocytes in the form of a hexamer composed of two sets of three polypeptides (Aa, Bb, and c). Each polypeptide is encoded by a distinct gene, FGA, FGB, and FGG, all three clustered in a region of 50 kb on 4q31. Congenital afibrinogenemia is characterized by the complete absence of fibrinogen, the precursor of the major protein constituent of the blood clot, fibrin. Although the disease was first described in 1920, the genetic defect responsible for this disorder long remained unknown. We identified the gene and the first causative mutations for this disease in a nonconsanguineous Swiss family in 1999. Since this first report, 61 additional mutations, the majority in FGA, have been identified in patients with afibrinogenemia (in homozygosity or in compound heterozygosity) or in heterozygosity in hypofibrinogenemia, since many of these patients are in fact asymptomatic carriers of afibrinogenemia mutations. Mutations in the fibrinogen genes may lead to deficiency of fibrinogen by several mechanisms: these can act at the DNA level, at the RNA level by affecting mRNA splicing or stability, or at the protein level by affecting protein synthesis, assembly, or secretion. The expression of selected mutations has shown that mechanisms acting at all three levels play a role in the molecular basis of this disease. We report here the identification of 10 novel mutations, of which eight are localized in FGA, thus increasing the total number of causative mutations identified to 72 and confirming the relative importance of FGA in the molecular basis of fibrinogen deficiency. Hum Mutat 28(6), [540][541][542][543][544][545][546][547][548][549][550][551][552][553] 2007. r r 2007 Wiley-Liss, Inc.

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“…2,19) Although intracranial hemorrhage can present with rare coagulation disorder, lifethreatening intracranial hemorrhage is infrequent in adults, 14) with only 3 cases reported. 3,6,14) Two case reports 3,6) described spontaneous intracerebral hemorrhages which were treated conservatively with the administration of fibrinogen concentrates and the one case report 14) described acute epidural and subdural hematomas which were successfully evacuated via craniotomies using fibrinogen concentrate.…”

Section: Discussionmentioning

confidence: 99%

“…In later life, the disorder may be associated with bleeding from the mucosal surfaces, hemorrhage into the muscle and joints, spontaneous abortions, and spontaneous splenic rupture. 2,15,19) A small number of cases of spontaneous intracerebral bleeding in adults have been reported, 3,6,14) but none of chronic subdural hematoma (CSDH) with congenital afibrinogenemia. Here we report a case of CSDH in a 37-year-old woman that was successfully treated by burr-hole evacuation with administration of fibrinogen concentrate.…”

Section: Introductionmentioning

confidence: 99%

Chronic Subdural Hematoma in a Patient With Congenital Afibrinogenemia Successfully Treated With Fibrinogen Replacement -Case Report-

Sakai

Akamine

Tokuyama

et al. 2011

Neurol. Med. Chir.(Tokyo)

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A 37-year-old woman with congenital afibrinogenemia presented with chronic subdural hematoma (CSDH) manifesting as severe headache, nausea, and somnolence after a minor head trauma. Brain computed tomography scans showed a right subdural hematoma associated with midline shift. Laboratory studies showed prolongation of prothrombin time, activated partial thromboplastin time, and undetectably low level of fibrinogen. Until the present episode, she had received plasma-derived fibrinogen concentrate around menstruation and pregnancy. She had also suffered from spinal cord infarction due to vertebral artery occlusion. Burr-hole evacuation and drainage of CSDH was successfully performed using fibrinogen concentrate. The development of CSDH with afibrinogenemia is very rare. Although the past repeated administrations of fibrinogen concentrate were suspected to generate CSDH, paradoxical thrombotic complications caused by upregulation of prothrombin activation, thrombin generation, and growth factors released from platelets might be related to the development of CSDH with congenital afibrinogenemia.

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Recurrent Spontaneous Intracerebral Hemorrhage in a Congenitally Afibrinogenemic Patient

Cited by 34 publications

References 8 publications

Thrombosis in Inherited Fibrinogen Disorders

Thrombosis in Inherited Fibrinogen Disorders

Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations

Chronic Subdural Hematoma in a Patient With Congenital Afibrinogenemia Successfully Treated With Fibrinogen Replacement -Case Report-

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