Clinical manifestation

Patients affected by RBDs have a wide spectrum of clinical presentations that vary from a mild or moderate bleeding tendency, to potentially serious or life-threatening haemorrhages. However these disorders appear generally less severe than haemophilia A and B, as life- and limb-threatening symptoms as CNS, GI tract bleeding, haemarthroses and haematomas are definitely less frequent.
The most severe bleeding symptoms are found in patients with afibrinogenemia, factor X deficiency, and prothrombin deficiency, with a relatively high frequency of joint and muscle bleeding.

Severe bleeding manifestations such as GI tract bleeding and CNS bleeding are relatively rare for all defects, except for factor X deficiency. Umbilical cord bleeding, typical of afibrinogenemia and factor XIII deficiency, are relatively frequent also in prothrombin, factor V and factor X deficiency.

An unexplained common feature of these disorders is frequent mucosal bleeding, relatively uncommon in the haemophilias. Menorrhagia occurs in about half of the female patients, without important differences among coagulation defects.

Excessive bleeding occurs frequently when surgical operations are carried out without replacement therapy. There is no evidence that in FV+FVIII deficiency the presence of a double defect adds up to worsen haemostasis -2- (Figure 2).