| |
| |
| 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). |
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