Clinical manifestation - Rare Bleeding Disorder Database



Definition	Phenotype	Genotype	Correlation	Treatment	References

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. Figure 2
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.