Successful use of recombinant FVIIa in combined factor V and FVIII deficiency with surgical bleeding resistant to substitutive treatment. A case report

Marzio, Ilaria Di; Iuliani, Ornella; Malizia, R; Rolandi, Giancarlo; Castaman, Giancarlo; Dragani, Alfredo

doi:10.1111/j.1365-2516.2010.02368.x

Cited by 11 publications

(6 citation statements)

References 5 publications

(6 reference statements)

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“…Previous approaches have included recombinant FVIII (rFVIII) concentrate (Ueno et al , ; Mansouritorghabeh et al , ; Oukkache et al , ) and desmopressin (Bauduer et al , ; Guglielmone et al , ). rFVIIa has been reported as effective for bleeding when FFP was either ineffective (Di Marzio et al , ) or was associated with severe allergy (Lechner et al , ).…”

Section: Combined Factor V and Factor Viii Deficiencymentioning

confidence: 99%

“…Previous approaches have included recombinant FVIII (rFVIII) concentrate (Ueno et al, 1991;Mansouritorghabeh et al, 2009;Oukkache et al, 2012) and desmopressin (Bauduer et al, 2004;Guglielmone et al, 2009). rFVIIa has been reported as effective for bleeding when FFP was either ineffective (Di Marzio et al, 2011) or was associated with severe allergy (Lechner et al, 2010). Transient low level FV and FVIII inhibitors have been reported as common in some cases with F5F8D and may respond to high dose FFP or intravenous immunoglobulin .…”

Section: Managementmentioning

confidence: 99%

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Guideline for the diagnosis and management of the rare coagulation disorders

et al. 2014

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Section: Combined Factor V and Factor Viii Deficiencymentioning

confidence: 99%

Section: Managementmentioning

confidence: 99%

Guideline for the diagnosis and management of the rare coagulation disorders

et al. 2014

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“…The other treatment modality is FFP with factor VIII concentrates [13]. Recently, recombinant FVIIa was used successfully in patients with surgical bleeding resistant to substitutive therapy [14].…”

Section: Discussionmentioning

confidence: 99%

Developmental Haemostasis for Factor V and Factor VIII Levels in Neonates: A Case Report of Spontaneous Cephalhaematoma

Abdullah

Ismail

Nasir

et al. 2012

Fetal and Pediatric Pathology

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Combined factor V and VIII deficiency is a rare bleeding disorder. Diagnosis of congenital coagulation factor deficiency in a neonate is challenging due to "immaturity" of the hemostatic system. A 2-day-old baby girl presented with spontaneous cephalhematoma. She was found to have persistent abnormal coagulation tests and finally diagnosed as combined factor V and VIII deficiency. Interestingly, factor V and factor VIII in developmental hemostasis are quite similar with adult levels in newborn, and hence early diagnosis is possible. An investigation to detect underlying hemostatic defects is recommended in newborns with spontaneous cephalhematoma.

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“…In a case of F5F8D with persistent abdominal hematoma following surgery that combined FFP and FVIII concentrate infusions failed to control, FVIIa was successfully used to stop the bleeding complications. 16 FVIIa treatment has the advantage over FFP infusion of avoiding fluid overload. However, the safety of off-label use of FVIIa in treating F5F8D remains to be established.…”

Section: Disease Managementmentioning

confidence: 99%

“…Biochemical analysis of W67S demonstrated that this mutant is unable to bind mannose or interact with MCFD2, 38,44 suggesting that it compromises the structural integrity of the protein. The C475R mutation, which has been reported in compound heterozygous state in an Argentinian patient 21 and homozygosity in an Italian patient, 16 disrupts one of two membrane-proximal cysteines. A previous mutagenesis study showed that LMAN1 with the C475A mutation can dimerize but cannot form hexamers.…”

Section: Organization Of the Lman1-mcfd2 Receptor Complexmentioning

confidence: 99%

Combined Deficiency of Coagulation Factors V and VIII: An Update

Zheng

Zhang

2013

Semin Thromb Hemost

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Combined deficiency of factor V (FV) and FVIII (F5F8D) is an autosomal recessive bleeding disorder characterized by simultaneous decreases of both coagulation factors. This review summarizes recent reports on the clinical presentations, treatments, and molecular mechanism of F5F8D. Genetic studies identified LMAN1 and MCFD2 as causative genes for this disorder, revealing a previously unknown intracellular transport pathway shared by the two important blood coagulation factors. LMAN1 and MCFD2 form a Ca2+-dependent cargo receptor complex that functions in the transport of FV/FVIII from the endoplasmic reticulum (ER) to the Golgi. Disrupting the LMAN1-MCFD2 receptor, complex formation is the primary molecular defect of missense mutations leading to F5F8D. The EF-hand domains of MCFD2 are necessary and sufficient for the interactions with both LMAN1 and FV/FVIII. Similarly, the carbohydrate recognition domain of LMAN1 contains distinct and separable binding sites for both MCFD2 and FV/FVIII. Therefore, FV and FVIII likely carry duel sorting signals that are separately recognized by LMAN1 and MCFD2 and necessary for the efficient ER-to-Golgi transport. FV and FVIII likely bind LMAN1 through the high-mannose N-linked glycans under the higher Ca2+ conditions in the ER and dissociate in the lower Ca2+ environment of the ER–Golgi intermediate compartment.

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Successful use of recombinant FVIIa in combined factor V and FVIII deficiency with surgical bleeding resistant to substitutive treatment. A case report

Cited by 11 publications

References 5 publications

Guideline for the diagnosis and management of the rare coagulation disorders

Guideline for the diagnosis and management of the rare coagulation disorders

Developmental Haemostasis for Factor V and Factor VIII Levels in Neonates: A Case Report of Spontaneous Cephalhaematoma

Combined Deficiency of Coagulation Factors V and VIII: An Update

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