Rare coagulation disorders: fibrinogen, factor <scp>VII</scp> and factor <scp>XIII</scp>

Moerloose, Philippe de; Schved, Jean‐François; Nugent, Diane J.

doi:10.1111/hae.12965

Cited by 41 publications

(31 citation statements)

References 16 publications

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“…One IU of pd-FVII induces a plasma level increase of 1.9%. Currently, the average pd-FVII dosages used are 15–20 IU/kg for mucosal bleeding, and 30–40 IU/kg in severe or life-threatening hemorrhages [47]. …”

Section: Replacement Therapymentioning

confidence: 99%

Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy

Napolitano

Siragusa

Mariani

2017

JCM

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Factor VII deficiency is the most common among rare inherited autosomal recessive bleeding disorders, and is a chameleon disease due to the lack of a direct correlation between plasma levels of coagulation Factor VII and bleeding manifestations. Clinical phenotypes range from asymptomatic condition—even in homozygous subjects—to severe life-threatening bleedings (central nervous system, gastrointestinal bleeding). Prediction of bleeding risk is thus based on multiple parameters that challenge disease management. Spontaneous or surgical bleedings require accurate treatment schedules, and patients at high risk of severe hemorrhages may need prophylaxis from childhood onwards. The aim of the current review is to depict an updated summary of clinical phenotype, laboratory diagnosis, and treatment of inherited Factor VII deficiency.

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Section: Replacement Therapymentioning

confidence: 99%

Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy

Napolitano

Siragusa

Mariani

2017

JCM

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“…The risk of bleeding usually increases with levels of less than 10% and those with > 20% remain frequently asymptomatic. However, patients with levels > 20% may bleed and those with < 1% may remain asymptomatic [6]. …”

Section: Discussionmentioning

confidence: 99%

Recombinant Factor VIIa Use for Endoscopic Retrograde Cholangiopancreatography With Sphincterotomy in a Patient With Choledocholithiasis and Unusual Coagulopathy

et al. 2017

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Endoscopic retrograde cholangiopancreatography (ERCP) is a procedure that combines the use of endoscopy and fluoroscopy to diagnose and treat pancreaticobiliary disorders. The risks of ERCP include pancreatitis, infection, bleeding and perforation. Bleeding during ERCP typically develops after sphincterotomy, hence patients should be screened and tested for coagulopathy before undergoing ERCP. Coagulopathy is a major risk factor for ERCP-related bleeding. Inherited factor VII (FVII) deficiency is a rare autosomal recessive hemorrhagic disorder that can lead to significant coagulopathy and severe bleeding if not appropriately recognized and treated preoperatively. Clinically, the disease ranges between an asymptomatic state to lethal hemorrhage and the degree of FVII deficiency does not correlate with the severity of bleeding. The use of FVII replacement therapy has been reported to prevent bleeding during surgery. We present the first report of a patient with a rare cause of coagulopathy due to inherited FVII deficiency who successfully underwent ERCP with sphincterotomy without bleeding where we used recombinant factor VIIa before and after the procedure.

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“…Congenital fibrinogen defects can be quantitative (afibrinogenemia or hypofibrinogenemia), qualitative (dysfibrinogenemia), or a combination of both (hypodysfibrinogenemia). Congenital afibrinogenemia (the complete absence of circulating fibrinogen) is an autosomal recessive disorder with a prevalence of 1:1.000.000 . The disorder typically presents at birth with umbilical cord bleeding.…”

Section: Introductionmentioning

confidence: 99%

“…The disorder typically presents at birth with umbilical cord bleeding. Other types of frequently occurring bleeding are easy bruising, soft tissue bleeding (spontaneous), muscle and joint bleeding, gastrointestinal bleeding, genitourinary bleeding, and intracranial hemorrhage . Interestingly, patients with afibrinogenemia may also have an increased risk of thrombosis because they form loosely packed and unstable thrombi with a tendency to embolize .…”

Section: Introductionmentioning

confidence: 99%

“…Other types of frequently occurring bleeding are easy bruising, soft tissue bleeding (spontaneous), muscle and joint bleeding, gastrointestinal bleeding, genitourinary bleeding, and intracranial hemorrhage . Interestingly, patients with afibrinogenemia may also have an increased risk of thrombosis because they form loosely packed and unstable thrombi with a tendency to embolize . Obstetric complications, such as first‐trimester pregnancy loss or antepartum and postpartum hemorrhage (often caused by placental abruption), are also common .…”

Section: Introductionmentioning

confidence: 99%

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Pregnancy outcome in afibrinogenemia: Are we giving enough fibrinogen concentrate? A case series

Saes

Gorkom

Coppens

et al. 2020

Research and Practice in Thrombosis and Haemostasis

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Congenital afibrinogenemia is a rare autosomal recessive disorder associated with an increased risk of hemorrhage, thrombosis, and obstetric complications. This case series of 4 pregnancies in 2 related patients seeks to address the key clinical question of the necessary doses of fibrinogen concentrate during pregnancy and puerperium. One pregnancy without the prophylactic use of fibrinogen concentrate resulted in spontaneous abortion. The second pregnancy was complicated by a subchorionic hematoma despite the prophylactic administration of fibrinogen concentrate to maintain the plasma trough levels at ≥0.6 g/L. Labor was complicated by postpartum hemorrhage with a blood loss volume of 1480 cc. Two weeks later, the patient presented with postpartum thrombosis. The other 2 pregnancies were uncomplicated with fibrinogen trough levels ≥1.0 g/L during pregnancy and ≥1.5 g/L during labor. These cases illustrate that during pregnancy, patients may benefit from fibrinogen trough levels ≥1.0 g/L. In addition, the increased risk of postpartum thrombosis with prolonged fibrinogen supplementation warrants personalized postpartum advice that is guided by postpartum blood loss.

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Rare coagulation disorders: fibrinogen, factor VII and factor XIII

Cited by 41 publications

References 16 publications

Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy

Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy

Recombinant Factor VIIa Use for Endoscopic Retrograde Cholangiopancreatography With Sphincterotomy in a Patient With Choledocholithiasis and Unusual Coagulopathy

Pregnancy outcome in afibrinogenemia: Are we giving enough fibrinogen concentrate? A case series

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