Factor XI deficiency—resolving the enigma?

Bolton‐Maggs, Paula

doi:10.1182/asheducation-2009.1.97

Cited by 83 publications

(123 citation statements)

References 48 publications

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“…In general, serious bleeding (eg, ICH or musculoskeletal or umbilical cord bleeding) is rare in FV and FXI deficiencies, 25,38 as is spontaneous bleeding in FXI deficiency. 32,39 Bleeding phenotype is widely heterogeneous in FV, FVII, and FXI deficiencies and, in contrast to HA and HB, correlates poorly with factor activity level. Specifically, a recent review documented a poor correlation between clinical severity and coagulant activity in FV and FVII deficiencies and no correlation between clinical severity and coagulant activity in FXI deficiency, even at undetectable or moderately reduced (,20%) levels.…”

Section: Site-specific Bleeding Symptomsmentioning

confidence: 99%

Rare Bleeding Disorders in Children: Identification and Primary Care Management

Acharya

2013

Pediatrics

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Bleeding symptoms are common in healthy children but occasionally may indicate an underlying congenital or acquired bleeding diathesis. The rare bleeding disorders (RBDs) comprise inherited deficiencies of coagulation factors I (congenital fibrinogen deficiencies), II, V, VII, X, XI, and XIII and combined factor deficiencies, most notably of factors V and VIII and of vitamin K-dependent factors. These disorders often manifest during childhood and may present with recurrent or even serious or life-threatening bleeding episodes, particularly during the neonatal period. Accordingly, primary care and other nonhematologist pediatric providers should be familiar with the clinical presentation and initial evaluation of these rare disorders. Bleeding manifestations generally vary within the same RBD and may be indistinguishable from 1 RBD to another or from other more common bleeding disorders. Serious bleeding events such as intracranial hemorrhage may be heralded by less serious bleeding symptoms. The results of initial coagulation studies, especially prothrombin time and activated partial thromboplastin time, are often helpful in narrowing down the potential factor deficiency, with factor XIII deficiency being an exception. Consultation with a hematologist is advised to facilitate accurate diagnosis and to ensure proper management and follow-up. The approach to bleeding episodes and invasive procedures is individualized and depends on the severity, frequency, and, in the case of procedures, likelihood of bleeding. Prophylaxis may be appropriate in children with recurrent serious bleeding and specifically after life-threatening bleeding episodes. When available, specific purified plasma-derived or recombinant factor concentrates, rather than fresh frozen plasma or cryoprecipitate, are the treatment of choice. Pediatrics 2013;132:882-892

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Section: Site-specific Bleeding Symptomsmentioning

confidence: 99%

Rare Bleeding Disorders in Children: Identification and Primary Care Management

Acharya

2013

Pediatrics

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“…Potential treatment options are the fibrinolytic inhibitor tranexamic acid, the synthetic vasopressin analogue desmopressin, fresh frozen plasma, recombinant coagulation factor VII and coagulation factor XI concentrates. In certain cases with partial deficiency, only observation can be sufficient [7].…”

Section: Discussionmentioning

confidence: 99%

Successful laparoscopic radical prostatectomy in a patient with factor XI deficiency

Murányi¹,

Benyó²,

Kiss³

et al. 2016

IJCRI

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International Journal of Case Reports and Images (IJCRI) is an international, peer reviewed, monthly, open access, online journal, publishing high-quality, articles in all areas of basic medical sciences and clinical specialties.Aim of IJCRI is to encourage the publication of new information by providing a platform for reporting of unique, unusual and rare cases which enhance understanding of disease process, its diagnosis, management and clinico-pathologic correlations. Factor XI deficiency is a rare type of hemophilia. It is associated with profuse bleeding after traumas and surgical procedures. In a patient with factor XI deficiency, the serum coagulation factor level does not predict bleeding tendency appropriately. IJCRI publishesOperations in sites without fibrinolytic activity are less likely to be complicated by bleeding, while surgery in areas with fibrinolytic activity, like prostatectomy, increases the risk of bleeding. The optimal treatment should be determined by individual circumstances. Radical prostatectomy is a procedure when severe bleeding requiring transfusion can occur even without any bleeding disorder. At the same time radical prostatectomy carries a significant risk of potentially fatal thromboembolism. Thus keeping the balance between procoagulant and anticoagulant activity is the challenging part in cases of radical prostatecomy of factor XI deficiency. Case Report: A 67-year-old patient is presented with organ confined intermediate-risk prostate cancer. Prolonged bleeding after tooth extraction and prostate biopsy indicated assessment of hemostatic system. Laboratory tests revealed factor XI deficiency. Successful laparoscopic extraperitoneal radical prostatectomy and bilateral pelvic lymphadenectomy was performed with low amount of blood loss. Recombinant activated coagulation factor VII was administered to prevent perioperative bleeding. The postoperative period was uneventful, no complications were observed. Conclusion: Despite the high risk of hemorrhage, laparoscopic radical prostatectomy is a feasible procedure even in a patient with factor XI deficiency, providing that the patient receive adequate preparation and a meticulously performed operation carried out by an experienced surgeon.

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“…Bu ilaçların da faktör XI eksikliğine bağlı kanamalarda kullanılabileceği bildirilmiştir. Ayrıca desmopressin'in FXI aktivitesini arttırdığı gösterilmiştir (4,(7)(8)(9). Bizim hastamızda faktör replasmanı için tercih edilen ürün TDP oldu.…”

Section: Olgu Sunumuunclassified

Anaesthesia Management of a Patient with Factor XI Deficiency

Adibelli¹,

Araz²,

Ersoy³

et al. 2016

Turk J Anaesth Reanim

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Faktör XI eksikliği oldukça nadir görülen travma veya cerrahi gibi başlatıcı bir sebep olmadığı durumlarda klinik bulgu vermeyen bir hastalıktır. Sağlıklı bireylerde faktör düzeyi 70-150 U dL-1 arasın-da bulunur. Bu düzeyin altında, klinik bulgu gözlenmeden sadece aPTT yüksekliği görülebilir. Bu uzamanın saptanması durumunda hastalarda faktör XI eksikliğinden şüphelenerek faktör düzeyi çalışıl-malıdır. Eksiklik saptanan hastaların preoperatif hazırlıklarının dikkatli şekilde yapılmasıyla cerrahi sırasında ve sonrasında olası komplikasyonlar azaltılabilir. Bu olgu sunumunda, faktör XI eksikliği bulunan bir hastanın total kalça protezi operasyonu sırasındaki anestezi yöntemi sunulmaktadır.Anahtar kelimeler: Faktör XI eksikliği, anestezi yönetimi, total kalça protezi Factor XI deficiency is an extremely rare disease presenting no clinical symptoms, unless there is an inducing reason such as trauma or surgery. Normally, factor levels are in the range of 70-150 U dL-1 in healthy subjects. Although no clinical symptoms are seen, only high levels of aPTT can be found. Once a prolongation is detected in aPTT, factor XI deficiency should be suspected and factor levels should be analysed. With careful preoperative preparations in factor-deficient people, preoperative and postoperative complications can be decreased. In this case report, management of anaesthesia during total hip arthroplasty of a patient with factor XI deficiency is presented. Keywords GirişF aktör XI eksikliği, nadir olarak görülen bir faktör eksikliği olup, kodlayan geni 4. kromozom üzerindedir. Faktör eksikliği bulunan hastalarda spontan kanamalar nadirdir, ancak cerrahi müdahaleler ve travma sonrası önemli kanamalar mümkündür. İzole uzamış aktive parsiyel tromboplastin zamanı (aPTT) değerleri faktör XI eksikliği için uyarıcı olmalıdır (1). Tedavide temel yöntem eksik olan faktörün yerine koyulmasıdır (2). Bu olgu sunumunda total kalça protezi cerrahisi geçirecek olan ve faktör XI eksikliği bulunan hastanın anestezi yönetimi sunulmaktadır. Olgu SunumuBu olgu sunumu için hasta bilgilendirilmiş ve izini alınmıştır. İki yıldır faktör XI eksikliği nedeniyle izlenmekte olan 59 yaşında kadın hasta, sol total kalça protezi ameliyatı öncesi değerlendirildi. Faktör XI eksikliği yanı sıra, allerjik astım, ve tiroid nodülü olduğunu belirtti. Yapılan incelemelerde hastanın solunum fonksiyonları ve tiroid fonksiyon testlerinin normal sı-nırlarda olduğu görüldü. Faktör eksikliği tanısının daha önceki ameliyatı sırasında aile hikayesi bulunması nedeniyle konulduğu, küçük cerrahi işlem nedeniyle herhangi bir profilaksi uygulanmadığı ve ciddi bir komplikasyon yaşamadığı öğrenildi.Hastanın hematolojik değerlendirilmesinde aPTT değeri 77 saniye ve faktör XI düzeyi 9 U dL -1 (Normal değeri 70-150 U dL -1 ) olduğu gözlendi. Preoperatif hemoglobin değeri 13,6 g dL -1 ve trombosit sayısı 273 bin mm 3-1 olarak belirlendi. Hematoloji bölümü tarafından girişim öncesi 15-20 mL kg -1 , postoperatif 12. saatte 5 mL kg -1 ve kanamanın devamı halinde 12 saat aralıklarla 5 mL kg -1 ...

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Factor XI deficiency—resolving the enigma?

Cited by 83 publications

References 48 publications

Rare Bleeding Disorders in Children: Identification and Primary Care Management

Rare Bleeding Disorders in Children: Identification and Primary Care Management

Successful laparoscopic radical prostatectomy in a patient with factor XI deficiency

Anaesthesia Management of a Patient with Factor XI Deficiency

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