Concomitant hypofibrinogenemia and factor XI deficiency as rare cause of bleeding during urgent dentistry: case report and short review of the literature

Sucker, Christoph; Geisen, Christof; Litmathe, Jens; Schmitt, Ursula

doi:10.22551/2023.39.1002.10253

Cited by 3 publications

(1 citation statement)

References 13 publications

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“…The authors stated that TGA are valuable to determine the bleeding risk in respective patients prior to surgery and to guide the hemostatic management [ 16 ]. We recently reported a case of concomitant factor XI deficiency and hypofibrinogenemia, in which the decision not to substitute factor XI but fibrinogen for major dentistry was driven by a normal thrombin generation assay [ 17 ].…”

Section: Discussionmentioning

confidence: 99%

Two cases of Factor XI deficiency: Use of Thrombin Generation Assays (TGA) to detect a non-bleeding phenotype

Sucker,

Geisen,

Litmathe

2024

Arch Clin Cases

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Factor XI deficiency is a rare disorder of hemostasis. Previously also known as “hemophilia C”, this defect has been regarded as a risk factor for bleeding. However, it has been known for long that bleeding tendency and severity of bleeding are not related to the residual factor XI activity in symptomatic patients. Moreover, a large proportion of patients with even severe factor XI deficiency are clinically unremarkable and do not show any signs of abnormal bleeding. Here, we present two cases of factor XI deficiency with a non-bleeding phenotype. Adequate diagnostic work-up and evaluation of the bleeding risk are reported and discussed with focus on thrombin generation assays (TGA) for the prediction of bleeding in affected patients. This is of high relevance in affected patients, particularly in the context of surgery.

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Section: Discussionmentioning

confidence: 99%

Two cases of Factor XI deficiency: Use of Thrombin Generation Assays (TGA) to detect a non-bleeding phenotype

Sucker,

Geisen,

Litmathe

2024

Arch Clin Cases

Self Cite

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Clinical, Laboratory, and Molecular Aspects of Congenital Fibrinogen Disorders

Casini,

Moerloose,

Neerman-Arbez

2024

Semin Thromb Hemost

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Congenital fibrinogen disorders (CFDs) include afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. The fibrinogen levels, the clinical features, and the genotype define several sub-types, each with specific biological and clinical issues. The diagnosis of CFDs is based on the measurement of activity and antigen fibrinogen levels as well as on the genotype. While relatively easy in quantitative fibrinogen disorders, the diagnosis can be more challenging in qualitative fibrinogen disorders depending on the reagents and methods used, and the underlying fibrinogen variants. Overall, quantitative and qualitative fibrinogen defects lead to a decrease in clottability, and usually in a bleeding tendency. The severity of the bleeding phenotype is moreover related to the concentration of fibrinogen. Paradoxically, patients with CFDs are also at risk of thrombotic events. The impact of the causative mutation on the structure and the fibrinogen level is one of the determinants of the thrombotic profile. Given the major role of fibrinogen in pregnancy, women with CFDs are particularly at risk of obstetrical adverse outcomes. The study of the fibrin clot properties can help to define the impact of fibrinogen disorders on the fibrin network. The development of next generation sequencing now allows the identification of genetic modifiers able to influence the global hemostasis balance in CFDs. Their integration in the assessment of the patient risk on an individual scale is an important step toward precision medicine in patients with such a heterogeneous clinical course.

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Case Report: Allelic and biallelic variants in coagulation factor XI cause factor XI deficiency

Liang,

Jin,

Shi

et al. 2024

Front. Cardiovasc. Med.

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Factor XI deficiency is a rare inherited coagulation disorder with an estimated prevalence of affecting 1 in 1 million. It is characterized by mild and variable bleeding phenotypes, including bruises, nosebleeds, hematuria, and postpartum hemorrhage. It can be caused by either allelic or biallelic variants in coagulation factor XI (F11). Coagulation factor XI is a glycoprotein that circulates in plasma as a non-covalent complex with high-molecular-weight kininogen. It is converted to an active protease, coagulation factor XIa, which participates in blood coagulation as a catalyst. In this study, we recruited a family with Factor XI deficiency and identified two F11 variants using whole-exome sequencing. One (NM_000128.4: c.841C>T, p.Q281X) was a known variant, and the other (NM_000128.4: c.1832T>G, p.V611G) had not been reported. In addition, we compiled the characteristics of known missense variants in coagulation factor XI. Our findings enriched the variant spectrum of Factor XI deficiency and contributed to the genetic counseling and molecular diagnostics of Factor XI deficiency.

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Concomitant hypofibrinogenemia and factor XI deficiency as rare cause of bleeding during urgent dentistry: case report and short review of the literature

Cited by 3 publications

References 13 publications

Two cases of Factor XI deficiency: Use of Thrombin Generation Assays (TGA) to detect a non-bleeding phenotype

Two cases of Factor XI deficiency: Use of Thrombin Generation Assays (TGA) to detect a non-bleeding phenotype

Clinical, Laboratory, and Molecular Aspects of Congenital Fibrinogen Disorders

Case Report: Allelic and biallelic variants in coagulation factor XI cause factor XI deficiency

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