Treatment

Due to the rarity of each factor deficiency, RBDs are relatively neglected by health care providers, advocacy organizations, and drug manufacturers. Purified factor concentrates for treatment of RBDs are not as readily available as they are for haemophilia A and B. Treatment of RBDs generally consists of the use of the most purified blood product available that contains the missing factor. Dosages and frequency of treatment depend on minimal haemostatic levels of the deficient factor, plasma half-life and type of bleeding episode (Table 3). Viral inactivated plasma, purified concentrates, prothrombin complex concentrates, cryoprecipitates, or fresh frozen plasma can be used -1-,9-11-. In addition, one recombinant DNA technology drug is available in Europe but not in USA: recombinant factor VIIa, available for treating factor VII deficient patients. FV and combined FV+VIII deficiencies can only be treated with fresh frozen plasma, because no suitable concentrate form exists. In choosing the type of treatment consideration of the safety of the replacement material is of paramount importance. Viral-inactivated plasma is an important source of replacement, to be recommended in the majority of these disorders. Commercial factor replacement concentrates, when available, are safe but often prohibitively expensive especially for the countries with the highest frequency of RBDs. Non-virus inactivated plasma and cryoprecipitates should be avoided if possible -12-.
Non-replacement treatment is often available. Antifibrinolytic amino acids may be useful either alone or in combination with replacement therapy, in the management of the less severe forms of mucosal tract haemorrhages. Epsilon aminocaproic acid and tranexamic acid can be administered orally or intravenously. The continued use of estrogen-progestogen preparations helps to reduce menstrual blood loss in women with iron deficiency anaemia due to menorrhagia -9-. The best choice of treatment may vary according to the location, society, customs and economy of the country where the patient is resident.