Bonhomme F, Schved J-F, Giansily-Blaizot M, Samama C-M, de Moerloose P
Service d'anesthésiologie, hôpitaux universitaires de Genève, 4, rue Gabrielle-Perret-Gentil, 1211 Genève 14, Suisse.
Ann Fr Anesth Reanim. 2013 Mar;32(3):198-205. doi: 10.1016/j.annfar.2013.01.019. Epub 2013 Feb 17.
Rare inherited bleeding disorders include fibrinogen disorders, and deficiencies of factors II (prothrombin), V, VII, X, XI, XIII, and combined V+VIII, and combined vitamin K-dependent factors, with general population prevalence rates between 1/500,000 and 1/2,000,000. These inherited disorders, transmitted as autosomal recessive traits, are characterized by a heterogeneous clinical presentation (asymptomatic, mild, moderate or severe bleeding tendency); this variability is more important for deficiencies with factor levels ranging from 5 to 50%. Individual bleeding risk assessment before an invasive procedure or during peri-partum period remains difficult, although an essential step to decide whether a substitution with clotting factor is necessary or not. Because there is a poor correlation between factor activity levels and the severity of bleeding symptoms, factor correction before an invasive procedure should not be based on factor level only, but physicians must also take into account the patient phenotype as well as the haemorrhagic risk of the procedure.
罕见遗传性出血性疾病包括纤维蛋白原异常，以及凝血因子II（凝血酶原）、V、VII、X、XI、XIII缺乏，V+VIII联合缺乏，以及维生素K依赖因子联合缺乏，在普通人群中的患病率在1/500,000至1/2,000,000之间。这些作为常染色体隐性性状遗传的疾病，临床表现具有异质性（无症状、轻度、中度或重度出血倾向）；对于因子水平在5%至50%之间的缺乏症，这种变异性更为明显。尽管在侵入性操作前或围产期进行个体出血风险评估是决定是否需要进行凝血因子替代治疗的关键步骤，但目前仍然困难重重。由于因子活性水平与出血症状的严重程度之间相关性较差，侵入性操作前的因子纠正不应仅基于因子水平，医生还必须考虑患者的表型以及操作的出血风险。
