Autori: D. Mihailov, M. Serban, M. Puiu, S. Arghirescu, W. Schramm;

Editorial: nature publishing group, European journal of human genetics, Volume 14 Supplement 1 May 2006, p.163, 2006.

Rezumat:

Introduction. Hemophilia is a X-linked inherited coagulopathy, due to
mutations in either FVIII (haemophilia A) or FIX (haemophilia B) genes.
Without adequate therapy, bleeding within the nervous system is the
most frequent mortality and morbidity in haemophiliacs.
Objective. Starting from therapeutic deficiencies in Romania
(prophylaxis absence, inadequate doses and duration of „on demand”
therapy), we followed-up neurological manifestations and their sequels
in haemophiliacs.
Material and method. Retrospective study based on 224 consecutive
haemophilia A (84.38%) and B (15.62%) patients, registered and
treated in Haemophilia Center Timisoara in a seven-year period. We
followed-up: frequency of neurological manifestations according to
haemophilia severity, pathogenic mechanism, age, inhibitor status,
territorial distribution, evolution and type of sequels.
Results. An important proportion of patients (33.92%) presented
bleedings with neurological symptoms, 38.15% of them having
multiple symptomatic haemorrhagic manifestations. Both neurological
complications (75%) and sequels (76.4%) were found especially in
patients with severe haemophilia. Predominant pathogenic mechanism
was nerve compression (62.71% of cases). 5.93% of neurological
symptoms appeared in newborns. Patients with inhibitors presented a
high risk of sequels. Most patients (52.94%) were from other counties,
which leaded to a delay in therapy administration. From all patients
with neurological manifestations, 44.73% presented sequels, the most
frequent being central nervous system sequels, followed by peripheral
neurological, sensorial and sensitive sequels
Conclusions. High frequency of the neurological manifestations
and great rate of sequels advertise a sanitary enlightenment of the
haemophiliac family for a rapid attendance of the patient, and optimizing
of the diagnostic and the therapeutic attitude.

Cuvinte cheie: X-linkat, coagulopatie, sechele neurologice // X-linked, coagulopathy, neurological sequels

URL: http://www.abstractsonline.com