Rare bleeding disorders (RBDs) are inherited coagulation disorders caused by deficiencies in fibrinogen, prothrombin, coagulation factors FI, FII, FV, FVIII, FX, FXI, and FXIII, as well as combined FV and FVIII deficiencies. RBDs are typically transmitted as autosomal recessive traits, except for dysfibrinogenemia and some cases of FXI deficiency, which follow an autosomal dominant pattern. The prevalence of RBDs ranges from 1 in 500,000 to 1 in 2–3 million, depending on the specific coagulation factor deficiency.
Clinical presentation of RBDs varies from being asymptomatic to experiencing mild bleeding, such as epistaxis or gum bleeding, to life-threatening hemorrhages like intracranial bleeding. Due to their low prevalence and heterogeneity, knowledge regarding the diagnosis, clinical characteristics, and management of RBDs remains limited. However, early diagnosis is crucial for…
