Congenital fibrinogen disorders with repeated thrombosis

Zhang, Xiuli; Zhang, Chuang; Wang, Baoheng; Chen, Ningheng; Sun, Gaihe; Guo, Xiaoxiao

doi:10.1007/s11239-019-01958-y

Cited by 5 publications

(3 citation statements)

References 19 publications

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“…In patients with hypofibrinogenemia, diagnosed arterial thrombosis were documented, confirming that thrombosis frequently develops at younger age, it is present in large vessels, its recurrence is not uncommon, and therapeutic management is not clarified yet. Venous thrombosis appears to be the most common thrombotic event [12,19,51,52].…”

Section: Epidemiology and Clinical Featuresmentioning

confidence: 99%

Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management

et al. 2021

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Congenital fibrinogen disorders are rare pathologies of the hemostasis, comprising quantitative (afibrinogenemia, hypofibrinogenemia) and qualitative (dysfibrinogenemia and hypodysfibrinogenemia) disorders. The clinical phenotype is highly heterogeneous, being associated with bleeding, thrombosis, or absence of symptoms. Afibrinogenemia and hypofibrinogenemia are the consequence of mutations in the homozygous, heterozygous, or compound heterozygous state in one of three genes encoding the fibrinogen chains, which can affect the synthesis, assembly, intracellular processing, stability, or secretion of fibrinogen. In addition to standard coagulation tests depending on the formation of fibrin, diagnostics also includes global coagulation assays, which are effective in monitoring the management of replacement therapy. Genetic testing is a key point for confirming the clinical diagnosis. The identification of the precise genetic mutations of congenital fibrinogen disorders is of value to permit early testing of other at risk persons and better understand the correlation between clinical phenotype and genotype. Management of patients with afibrinogenemia is particularly challenging since there are no data from evidence-based medicine studies. Fibrinogen concentrate is used to treat bleeding, whereas for the treatment of thrombotic complications, administered low-molecular-weight heparin is most often. This review deals with updated information about afibrinogenemia and hypofibrinogenemia, contributing to the early diagnosis and effective treatment of these disorders.

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Section: Epidemiology and Clinical Featuresmentioning

confidence: 99%

Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management

et al. 2021

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“…It can present as asymptomatic (55%), bleeding (25%), and thromboembolic events (20%). Venous thrombosis appears to be the most common thrombotic event particularly in hypofibrinogenemic patients [5][6][7]. The true mechanism(s) of thrombosis in inherited fibrinogen disorder remains unknown.…”

Section: Discussionmentioning

confidence: 99%

A Quest to Find the Aetiology of Pulmonary Embolism Beyond the Common: A Case of Dyshypofibrinogenemia Presenting as Pulmonary Embolism

Siddiqui¹,

Falak²

2023

Cureus

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Hypodysfibrinogenemia-related thromboembolic disorder is a rarely encountered clinical entity. We present such a case of a 34-year-old lady with no known co-morbidities presenting to the accident and emergency unit with left-sided pleuritic chest pain associated with non-productive cough and breathlessness.Laboratory tests revealed fibrinogen level of 0.42 g/l (1.5-4g/l) with prolonged prothrombin time (PT), activated partial thromboplastin time (aPTT) along with elevated d-dimer, N-terminal pro-B-type natriuretic peptide (NT-proBNP), and troponin. CT pulmonary angiogram (CTPA) found bilateral pulmonary embolism with right heart strain. Functional/antigenic fibrinogen ratio was 0.38. Genetic testing eventually revealed a heterozygous missense mutation in exon 8-p.1055G>C; p.Cys352Ser in the sequencing of the fibrinogen gene FGG (gamma chain) confirming the diagnosis of dyshypofibrinogenemia. She was treated with anticoagulants with fibrinogen replacement therapy and later discharged on apixaban.

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“…It should be noted that the adsorption process and the dominating interactions are dependent both on the surface properties of the foreign material, as will be lined out below in some more detail, but also on the health state of the patients. For example, patients with coronary heart diseases or those with inherited or acquired problems of their coagulation system may have an increased incidence to develop thrombotic complications [ 20 , 21 ].…”

Section: Protein Adsorptionmentioning

confidence: 99%

Control of Blood Coagulation by Hemocompatible Material Surfaces—A Review

et al. 2021

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Hemocompatibility of biomaterials in contact with the blood of patients is a prerequisite for the short- and long-term applications of medical devices such as cardiovascular stents, artificial heart valves, ventricular assist devices, catheters, blood linings and extracorporeal devices such as artificial kidneys (hemodialysis), extracorporeal membrane oxygenation (ECMO) and cardiopulmonary bypass. Although lower blood compatibility of materials and devices can be handled with systemic anticoagulation, its side effects, such as an increased bleeding risk, make materials that have a better hemocompatibility highly desirable, particularly in long-term applications. This review provides a short overview on the basic mechanisms of blood coagulation including plasmatic coagulation and blood platelets, as well as the activation of the complement system. Furthermore, a survey on concepts for tailoring the blood response of biomaterials to improve the hemocompatibility of medical devices is given which covers different approaches that either inhibit interaction of material surfaces with blood components completely or control the response of the coagulation system, blood platelets and leukocytes.

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Congenital fibrinogen disorders with repeated thrombosis

Cited by 5 publications

References 19 publications

Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management

Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management

A Quest to Find the Aetiology of Pulmonary Embolism Beyond the Common: A Case of Dyshypofibrinogenemia Presenting as Pulmonary Embolism

Control of Blood Coagulation by Hemocompatible Material Surfaces—A Review

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