CENTRAL NERVOUS SYSTEM (CNS)

BLEEDING IN PATIENTS AFFECTED BY RARE BLEEDING DISORDERS (RBDs)

Between bleeding symptoms occurring in patients with rare bleeding disorders one of the most severe and invalidating is the central nervous system (CNS) bleeding. CNS bleedings are rare but there are several reports of the frequent occurrence of these manifestations in patients with rare coagulation deficiencies, but reporting bias is likely to have emphasized their prevalence [Peyvandi F, et al. Haemophilia 2002]. CNS bleeding was reported to be one of the most severe and frequent symptom in FVII, FX and FXIII deficiency [Ragni MV et al. Am J Haematol 1981; Peyvandi F, et al. Haemophilia 1997, Lak M et al., JTH 2003; Anwar R et al. Br J haematol 1999; Peyvandi F et al., Br J Haematol. 1998; Herrmann FH et al., Haemophilia 2006; Herrmann FH et al., J Pediatr 2005].
Treatment and prophylaxis of CNS bleeding in those patients is currently a challenge because of the generalised lack of experience and paucity of data on these disorders, non-availability of factor concentrates for some deficiency states and the possible occurrence of severe complications [Peyvandi F, et al. Haemophilia 2006;12 Suppl 3]. Also triggering agents and risk factors associated with the onset of spontaneous CNS bleeding episodes are not well established. All the aforementioned points emphasize the need of guidelines to assist clinicians in the management of patients, obtained by aligning practice with the best available medical evidence, assessing the diagnostic value of basic and advanced assays of the coagulation factor deficiency in each rare bleeding disorders, and ascertaining their genetic basis.

AIM OF THE STUDY
The main goal of this study is to retrospectively collect (1987-2008) a large cohort of patients affected by rare bleeding disorders that experienced CNS bleeding in order:

1	To establish the incidence, the mortality rate and the incidence of invalidating sequences of the cerebral haemorrhage
2	To characterize the related risk factors of CNS and their importance
3	To establish the most frequent location of bleedings
4	To verify the treatment used during the acute phase of bleeding episodes and the most frequent prophylaxis used for prevention (their failure and success).

To reach this goal and considering the rarity of either patients affected by rare bleeding disorders and CNS bleeding, the protocol ( download file.pdf) and a specific questionnaire containing all the requested information could be downloaded by all the interested clinicians.

The study protocol was approved by the Medical ethics Committee of the IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation. The informed consent that has to be signed by the patients can be also downloaded.

All those clinicians who have enough information on diagnosis and treatment of each patient affected by a RBD that experienced a CNS bleeding could include the data. However, only those questionnaire that will be fully filled in will be analysed. Since these information will be collected, the detailed analysis of them and the best experiences will be used to establish treatment guidelines.
The authorship of the collaborating clinicians in the manuscript that will be generated from the study will depends on the number and quality of collected data.

Looking forward to have your collaboration and comments,
Best regards,
Flora Peyvandi