Rare Bleeding Disorders

Peyvandi, Flora; Favaloro, Emmanuel J.

doi:10.1055/s-0029-1225756

Cited by 27 publications

(23 citation statements)

References 18 publications

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“…Congenital afibrinogenemia occurs in approximately 1 in 1 000 000 individuals [34], but hypofibrinogenemia can also be acquired in a variety of medical conditions (consumptive coagulopathy, hepatic failure, etc.). Until recently, the only reliable source of fibrinogen for patients with genetic or acquired (e.g.…”

Section: Fibrinogen Deficiencymentioning

confidence: 99%

New developments in the treatment of pediatric hemophilia and bleeding disorders

Branchford

Monahan²,

Paola

2013

Current Opinion in Pediatrics

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Section: Fibrinogen Deficiencymentioning

confidence: 99%

New developments in the treatment of pediatric hemophilia and bleeding disorders

Branchford

Monahan²,

Paola

2013

Current Opinion in Pediatrics

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“…Isolated factor V deficiency is a rare inherited coagulopathy transmitted with autosomal recessive inheritance, with an estimated prevalence in the general population in heterozygotes and homozygous form of 1 : 1000 and 1 : 1 000 000, respectively (8.3% of all rare inherited bleeding disorders) [11][12][13][14]. Individuals affected in a homozygous state or those with compound heterozygosity usually have factor V plasma levels lower than 10%, whereas heterozygous individuals with mild or moderate factor V deficiencies have factor V plasma levels typically around 50% [14].…”

Section: Inherited Factor V Deficiencymentioning

confidence: 99%

“…The overall prevalence among the rare bleeding disorders is, however, low and estimated at 2.7% [13]. The hallmark of this condition is the presence of concomitantly low levels, usually consisted between 5 and 20%, of both factor V and FVIII.…”

Section: Combined Deficiency Of Factor V and Viiimentioning

confidence: 99%

Inherited and acquired factor V deficiency

Lippi

Favaloro

Montagnana

et al. 2011

Blood Coagulation &Amp; Fibrinolysis

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The clotting factor V, also known as proaccelerin or labile factor, is synthesized by the liver and possibly by the megakaryocytes. Factor V exerts a pivotal role in hemostasis, as it participates in both procoagulant and anticoagulant pathways, being an essential cofactor of the prothrombinase complex in the former case and participating in the inactivation of factor VIII (FVIII) in the latter. Isolated factor V deficiency due to mutations in the F5 gene is a rare inherited coagulopathy typically associated with a broad spectrum of bleeding symptoms, ranging from easy bruising, delayed bleeding after haemostatic challenges such as trauma or surgery to more severe joint bleeds. The combined deficiency of factor V and FVIII, commonly known as F5F8D, is a recessive disorder not attributable to the association of isolated factor V and FVIII deficiencies, but rather to defective intracellular processing of both proteins due to mutations involving the LMAN1 and MCFD2 genes, which encode two proteins forming an essential cargo receptor complex. Overall, patients affected by F5F8D do not bleed more in terms of both frequency and severity than those carrying specific deficiencies of both factors and the bleeding phenotype is generally mild. Although now increasingly rare, inhibitors directed against factor V may also develop in individuals of any age and are characterized by a very heterogeneous clinical phenotype. The aim of the current review is to provide an overview on the physiopathology, diagnostics, and clinical management of both inherited and acquired factor V deficiency.

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“…These patients present early in life with either excessive bleeding and/or incidentally abnormal laboratory results. Patients with vWD and hemophilia undergo surgery with a well characterized and managed disease diagnosis and therefore usually avoid unexpected perioperative bleeding4-7.…”

Section: Perioperative Bleedingmentioning

confidence: 99%

“…There is strong heritability of levels of circulating coagulation proteins in non-surgical patient populations8-12, notably of plasminogen activator inhibitor-1 (PAI-1), factor XIII, factor VII7, fibrinogen, tissue plasminogen activator (tPA) and vWF. Although levels of these proteins are genetically determined and probably had some evolutionarily-distant purpose, the significance of this variability is most likely unimportant in this sedentary world, except when an individual undergoes surgery or major trauma.…”

Section: Perioperative Bleedingmentioning

confidence: 99%

Genomics: Risk and Outcomes in Cardiac Surgery

Perry

Muehlschlegel

Body

2008

Anesthesiology Clinics

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Coronary artery bypass graft (CABG) surgery is associated with several frequent postoperative adverse events. Outcome prediction is valued by patients and practioners, in order to provide some measure of balancing risks and benefits, and to provide expensive or higher-risk therapies to individuals at highest risk. Surgeons and anesthesiologists have traditionally relied on demographic, preoperative, and intraoperative risk factors to predict outcomes after cardiac surgery. Yet such predictions often have poor positive and negative predictive value for the individual patient. Perioperative genetics attempts to determine the impact of an individuals' genetic variation on the risk of developing adverse postoperative outcomes. In this review, we discuss emerging evidence that patients' genetic makeup predisposes them to adverse outcomes following cardiac surgery, specifically providing examples from perioperative bleeding, myocardial injury/infarction and atrial fibrillation (AF).

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Rare Bleeding Disorders

Cited by 27 publications

References 18 publications

New developments in the treatment of pediatric hemophilia and bleeding disorders

New developments in the treatment of pediatric hemophilia and bleeding disorders

Inherited and acquired factor V deficiency

Genomics: Risk and Outcomes in Cardiac Surgery

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