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Rare factor deficiencies are a group of inherited clotting disorders caused by a deficiency of one or more clotting factors. Clotting factors are involved in a series of reactions to prevent bleeding. Within this set of deficits, factors I, II, V, V + VIII, VII, X, XI or XIII are considered to be affected.
Although in general they do not usually produce spontaneous bleeding, surgery or invasive procedures require prior evaluation of the patient and consideration should be given to administering the appropriate treatment according to the type of procedure and the type of deficit.
It should be noted that most factors usually have a good correlation between factor levels and clinical signs, for example, in factor deficits FI, FII, combined deficit of FV and FVIII, deficit of FX and deficit of FXIII. In the case of VF and VII, however, the correlation is not so clear and with FXI there is usually no correlation between levels and clinical signs.
In general, there is usually bleeding after invasive procedures such as tooth extraction, caesarean section, surgery, epidural anaesthesia, etc. Patients may also present with mucosal bleeding, nosebleeds, heavy-flow menstrual periods, intestinal bleeding, etc.
As it is a genetic disorder, it can appear at all ages. Generally, with a factor level of >20%, haemostasis is ensured in order to conduct a normal daily life, although it is necessary to personalise treatment according to the deficit factor and the characteristics of each patient.
Diagnosis is made in the haemostasis laboratory:
Treatment will depend on the patient’s clinical signs and symptoms, the haemostatic levels required to perform surgery, etc. In mild cases, administration of antifibrinolytics may be sufficient, and in others administration of recombinant factor if available; otherwise plasma or APCC may be used.
The aforementioned laboratory tests.
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