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.
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DOI：
10.3390/diagnostics11112140
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发表时间：
2021-11-19
期刊：
影响因子：
--
通讯作者：
Kubisz P
中科院分区：
文献类型：
--
作者：
Simurda T;Asselta R;Zolkova J;Brunclikova M;Dobrotova M;Kolkova Z;Loderer D;Skornova I;Hudecek J;Lasabova Z;Stasko J;Kubisz P
先天性纤维蛋白原疾病是罕见的止血病理，包括定量（无纤维蛋白原血症、低纤维蛋白原血症）和定性（异常纤维蛋白原血症和低异常纤维蛋白原血症）疾病。临床表型是高度异质性的，与出血、血栓形成或无症状相关。无纤维蛋白原血症和低纤维蛋白原血症是编码纤维蛋白原链的三个基因之一的纯合、杂合或复合杂合状态突变的结果，其可影响纤维蛋白原的合成、组装、细胞内加工、稳定性或分泌。除了取决于纤维蛋白形成的标准凝血试验外，诊断还包括全面凝血试验，可有效监测替代治疗的管理。基因检测是确认临床诊断的关键。先天性纤维蛋白原疾病的精确基因突变的鉴定是有价值的，允许早期检测其他高危人群，更好地了解临床表型和基因型之间的相关性。无纤维蛋白原血症患者的管理特别具有挑战性，因为没有循证医学研究的数据。纤维蛋白原浓缩物用于治疗出血，而对于血栓性并发症的治疗，最常用的是低分子量肝素。本文就无纤维蛋白原血症和低纤维蛋白原血症的最新研究进展作一综述，以期对此类疾病的早期诊断和有效治疗有所帮助。
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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