Rodríguez María Falcón
Servicio de Hematología, Complejo hospitalario Universitario Insular-Materno Infantil de Canarias, Las Palmas de Gran Canaria, Spain.
Blood Coagul Fibrinolysis. 2022 Jan 1;33(Suppl 1):S15-S16. doi: 10.1097/MBC.0000000000001092.
Rare bleeding disorders (RBDs) comprise the inherited deficiencies of coagulation factors such as fibrinogen, factor (F)II, FV, FV fl FVIII, FVII, FX, FXI, and FXIII, and are usually transmitted as autosomal recessive disorders. Given the low prevalence of these coagulopathies, information about their genetic, clinical and laboratory characteristics is limited. The clinical symptoms of RCDs are extremely diverse in terms of bleeding type, site, severity, age at onset, and duration. The weak association between residual coagulant activity and clinical bleeding severity, or at times inexistent, correlation between the factor's residual levels and clinical manifestations in some RBDs makes it difficult to use a single criterion to classify such conditions. Standardization and customization of coagulation assays, full genome sequencing, and global clotting assays will significantly improve diagnosis of patients with RBDs.
罕见出血性疾病（RBDs）包括凝血因子的遗传性缺陷，如纤维蛋白原、因子（F）II、FV、FV Leiden、FVIII、FVII、FX、FXI和FXIII，通常以常染色体隐性疾病的形式遗传。鉴于这些凝血病的患病率较低，关于其遗传、临床和实验室特征的信息有限。RCDs的临床症状在出血类型、部位、严重程度、发病年龄和持续时间方面极为多样。在某些RBDs中，残余凝血活性与临床出血严重程度之间的关联较弱，或者有时不存在因子残余水平与临床表现之间的相关性，这使得难以用单一标准对这些病症进行分类。凝血测定的标准化和定制化、全基因组测序以及整体凝血测定将显著改善RBDs患者的诊断。
