Inhibitors in Patients with Congenital Bleeding Disorders Other Than Hemophilia

Franchini, Massimo; Marano, Giuseppe; Mengoli, Carlo; Piccinini, Vanessa; Pupella, Simonetta; Vaglio, Stefania; Liumbruno, Giancarlo Maria

doi:10.1055/s-0037-1607441

Cited by 7 publications

(4 citation statements)

References 119 publications

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“…Occurrence of anti‐FVII alloantibodies (inhibitors) is a rare but serious therapeutic challenge. It is seen only in severe FVII deficiency <10 IU/dL 28,29 . Patients were not responsive to rFVIIa.…”

Section: Fvii Deficiencymentioning

confidence: 96%

“…It is seen only in severe FVII deficiency <10 IU/dL. 28,29 Patients were not responsive to rFVIIa. Controversial experiences were reported with activated prothrombin complex concentrate (aPCC).…”

Section: Management Of Acute Haemorrhagesmentioning

confidence: 99%

“…Patients were not responsive to rFVIIa. Controversial experiences were reported with activated prothrombin complex concentrate (aPCC) 28 . An immune tolerance induction (ITI) regimen with plasma derived‐FVII concentrate was successfully used to eradicate inhibitors and post‐inhibitor treatment with aPCC was associated with excellent clinical response 28 …”

Section: Fvii Deficiencymentioning

confidence: 99%

“…28 An immune tolerance induction (ITI) regimen with plasma derived-FVII concentrate was successfully used to eradicate inhibitors and post-inhibitor treatment with aPCC was associated with excellent clinical response. 28…”

Section: Management Of Acute Haemorrhagesmentioning

confidence: 99%

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Management of rare inherited bleeding disorders: Proposals of the French Reference Centre on Haemophilia and Rare Coagulation Disorders

Trossaërt¹,

Chamouard

Biron‐Andréani

et al. 2023

European J of Haematology

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Introduction: The rare coagulation disorders may present significant difficulties in diagnosis and management. In addition, considerable inter-individual variation in bleeding phenotype is observed amongst affected individuals, making the bleeding risk difficult to assess in affected individuals. The last international recommendations on rare inherited bleeding disorders (RIBDs) were published by the United Kingdom Haemophilia Centre Doctors' Organisation in 2014. Since then, new drugs have been marketed, news studies on surgery management in patients with RIBD have been published, and new orphan diseases have been described. Aim: Therefore, the two main objectives of this review, based on the recent recommendations published by the French Reference Centre on Haemophilia and Rare Bleeding Disorders, are: (i) to briefly describe RIBD (clinical presentation and diagnostic work-up) to help physicians in patient screening for the early detection of such disorders; and (ii) to focus on the current management of acute haemorrhages and long term prophylaxis, surgical interventions, and pregnancy/delivery in patients with RIBD.

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Section: Fvii Deficiencymentioning

confidence: 96%

Section: Management Of Acute Haemorrhagesmentioning

confidence: 99%

Section: Fvii Deficiencymentioning

confidence: 99%

Section: Management Of Acute Haemorrhagesmentioning

confidence: 99%

See 2 more Smart Citations

Management of rare inherited bleeding disorders: Proposals of the French Reference Centre on Haemophilia and Rare Coagulation Disorders

Trossaërt¹,

Chamouard

Biron‐Andréani

et al. 2023

European J of Haematology

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Identification of a novel mutation in the factor XIII A subunit in a patient with inherited factor XIII deficiency

Yan

Wang²,

Qiu

et al. 2023

Int J Hematol

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Alloantibodies and Congenital Bleeding Disorders: New Insights in the Pathogenesis and Management

Coppola

Tagliaferri

Santoro

et al. 2018

Semin Thromb Hemost

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The hemophilia community is living in exciting times, thanks to recent and relevant developments in this field and great expectations for new treatment approaches that are able to significantly and positively affect patients' outcomes and quality of life. 1-5 Interestingly, one most important innovation, a hemostatic agent enabling a very effective prophylaxis of bleeding given subcutaneously (the bispecific antibody against factor [F] X and activated FIX emicizumab), 2,3 is being introduced for patients who developed alloantibodies against FVIII, the so-called inhibitors. The management of these patients has always been considered challenging because inhibitors make the standard effective and safe replacement with FVIII concentrates unfeasible and, therefore, make difficult the treatment of bleeding, leaving patients at a high risk of complications, both in the acute phase and in regard to long-term morbidity. 6 Due to the epidemiological impact of inhibitors (present in 30% of previously FVIII-unexposed patients and persistent/high titer in two-thirds of cases), 6,7 searching for pathophysiological mechanisms and strategies for management is particularly important in hemophilia A (HA). Indeed, a relevant body of literature addressing such issues has been generated over the last decades. However, significant challenges are also raised by the inhibitors encountered, albeit less frequently, in clinical practice in other congenital bleeding disorders (CBDs): (1) in hemophilia B (HB) and von Willebrand's disease (VWD), additional morbidity due to allergic reactions can occur; 6,8 (2) in rare CBDs, little information concerning management is available; 9 and (3) in deficiencies of platelet membrane glycoproteins, the clinical impact of alloantibodies and alternative treatment approaches are poorly understood. 10 With this background, the 11 chapters presented in this latest issue of Seminars in Thrombosis andHemostasis deal with the current state of the art of pathophysiology and management of alloantibodies in CBDs. It is easy to understand why seven of them focus on hemophilia, particularly on HA, discussing, at this current time of possible evolving scenarios, the most recent literature data. Alloantibodies in HB, VWD, rare CBDs, and congenital deficiencies of platelet surface glycoproteins are reviewed in the remaining four chapters.Three chapters focus on novel approaches to gain insight into molecular mechanisms of inhibitor development in hemophilia. In this respect, the role of genetic factors, particularly of the causative mutation type, and their complex interaction with nongenetic risk factors are well established, with extensive studies in HA. 11,12 Margaglione and Intrieri therefore briefly review available evidence concerning both genetic, nonmodifiable and potentially modifiable risk factors, highlighting the so far unanswered need for clinical scoring systems to predict and quantify the inhibitor risk in each patient. 13 These authors also report how complex and multifactorial phenomena, such as inhib...

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Inhibitors in Patients with Congenital Bleeding Disorders Other Than Hemophilia

Cited by 7 publications

References 119 publications

Management of rare inherited bleeding disorders: Proposals of the French Reference Centre on Haemophilia and Rare Coagulation Disorders

Management of rare inherited bleeding disorders: Proposals of the French Reference Centre on Haemophilia and Rare Coagulation Disorders

Identification of a novel mutation in the factor XIII A subunit in a patient with inherited factor XIII deficiency

Alloantibodies and Congenital Bleeding Disorders: New Insights in the Pathogenesis and Management

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