ABSTRACT
Hemophilia is characterized by joint hemorrhage with subsequent development of arthropathy.
During the past 40 to 50 years, factor VIII concentrates have been developed that
enable effective treatment of bleeding. However, the development of dosing, including
the implementation of prophylaxis, has been hampered by concentrate transmission of
blood-borne diseases. Since the advent of viral reducing procedures that were applied
to plasma-derived products and the implementation of recombinant DNA technology into
the manufacturing procedure, concentrates can be considered as safe today, and hemophilic
care can be more focused on the treatment modalities as such. Thus, prophylaxis is
being improved and made available to more patients. Studies are in progress in order
to give more scientific evidence behind its use. Magnetic resonance imaging (MRI)
seems promising in scaling early arthropathy and may be a tool in the future, superior
to plain X-ray and orthopedic examination, to follow patients on prophylaxis, especially
children. The development of inhibitors is the most severe threat to the health of
hemophiliacs today and in the future. Much has been done to elucidate genetic factors
predisposing for inhibitors, and the reactivity of inhibitors with the factor VIII
molecule has also been investigated. More has to be done, however, and there are still
many open issues regarding immune tolerance treatment and treatment of acute bleeding
in inhibitor patients. Hemophilic care has come far in order to restore health for
the hemophilic population. The treatment is effective in the prevention of joint disease
and the inhibitor problem is handled better now. Side effects have been reduced to
a minimum. In addition, carrier and prenatal diagnosis add important contributions
to improve life for the patient and his family. The next important step for the future
is gene therapy, and early clinical studies are already in progress.
KEYWORD
Hemophilia - factor VIII - prophylaxis - inhibitor - gene therapy
