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Last June, I was fortunate to attend the Haemophilia 2008 World Congress
in Istanbul - Turkey. Attending a Haemophilia Congress is a wonderful
opportunity to connect with many individuals who share the challenges of
living with haemophilia. With over 4000 delegates, there was no shortage
of expertise. From the moment I arrived, I was welcomed and accepted as
a member of the global haemophilia community. I met doctors, parents,
lab technicians, volunteers, physios, journalists, interpreters and of
course, people with haemophilia from Iraq, Egypt, Argentina, Mexico,
Italy, Jordan and many other nations.
One of the most noticeable facets of the Congress was the diversity
in haemophilia care and treatment available in other countries. It was
disheartening to learn about the plight of individuals in our global
haemophilia community that struggle to receive the most basic health
care. There is no doubt that living in a country which places social
welfare high in its list of priorities strengthens its society.
The World Federation of Haemophilia (WFH), together with its
affiliated National Member Organisations (NMO), continually strives to
make the vision of “Treatment for All” a reality. Mark Skinner’s
(President, WFH) opening plenary defined the ongoing challenges facing
the haemophilia community. Mark Skinner spoke on the history of the WFH
and the advances that have been achieved over the years in narrowing the
gap between the haves and the have nots.
People with haemophilia that do not have regular access to treatment
product are susceptible to haemophilic arthritis and joint deformities.
Various orthopaedic surgical options to correct joint problems were
discussed by a panel of experts. Joint replacements are very successful
for hips and knees although the same could not be said for ankles and
elbows. The panel of experts expressed their concern that ankle and
elbow replacements experience a high risk of surgical complications and
need to be carefully considered. Dr Mauricio Silva (USA) discussed a
range of surgical options for the elbow. These include synovectomies,
radial head excisions and total elbow replacements.
Understanding the processes that occur during a joint bleed is
critical in developing treatment options to prevent or reverse the
negative consequences of bleeding. Dr Alfonso Llinas (Colombia) provided
an informative presentation on the role of synovectomy in the management
of target joints. Dr Llinas explained that a joint can suffer
irreversible damage after as little as three bleeds. He also highlighted
the reduced incidence of joint damage for individuals who treat
prophylactically rather than on-demand and explained that while
synovectomy may assist in improving mobility and pain, it is more
successful if the patient is young and the level of joint damage is
minimal.
Quality of life (QoL) are buzz words used frequently
by the medical profession, but what do they really mean? Dr Alessandro
Gringieri (Italy) spoke on how individuals perceive quality of life,
happiness and well being. In his presentation, Dr Gringieri postulated
that individuals perceived QoL based on their level of consciousness
i.e. their life experiences, conditioning, expectations and beliefs and
questioned the ability to obtain objective measures for QoL. He went on
to define a number of QoL instruments and how the results of these
instruments should be interpreted.
The development of inhibitors to haemophilia
treatment products is a serious complication for people with haemophilia
as it severely limits available treatment options. A number of
interesting perspectives on treating individuals with inhibitors was
presented at the Congress.
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Joe Guarnieri at the
Haemophilia 2008 World Congress in Istanbul
Some developed countries now provide prophylaxis with
bypassing agents such as FEIBA and Factor VIIa to individuals with
inhibitors. This ensures that individuals with inhibitors can live
without pain and disabling joint deformities. Prophylaxis with bypassing
agents may provide relief to individuals with inhibitors that have had a
negative response to immune tolerisation and who suffer from frequent
bleeding episodes.
Studies were presented on the risk factors that may
trigger inhibitor development in individuals with haemophilia. The risk
factors vary from genetic factors such as the type of gene mutation,
baseline concentration of factor and family history of inhibitor
development, to the age of the individual when first exposed to
treatment, the type of treatment given and the intensity of the
treatment. These studies are aimed at understanding the process of
inhibitor formation and the development of treatment protocols to
counteract and prevent inhibitors.
Gene therapy has the potential to make cells in the
body express optimal concentrations of clotting factor permanently.
Unfortunately, the studies presented at the Congress demonstrated that
gene therapy is much easier said than done. Some clinical trials showed
that the mechanism that delivers the correct gene to the cell triggers
an immune response rendering treatment ineffective after the initial
administration. Furthermore, the treatment still struggles to produce
sustainable and effective concentrations of the missing factor. New
clinical trials are taking place to trial new gene delivery systems and
include immunosuppressants in the treatment.
So what does the future hold for haemophilia care and
treatment? Dr Paul Giangrande and Dr David Lillicrap (UK) provided a
brief look into future treatments for haemophilia. They spoke about the
ability of gene therapy, although slow, to provide a cure for
haemophilia. They also explained the research being conducted into the
development of a factor pill as well as the next generation factor
concentrates which may have a five fold increase in half life and
effectiveness. Imagine that. In the future, haemophilia treatment may
comprise of taking a pill every two weeks.
Overall, the Congress was an amazing experience that reinforced my
faith in doctors, volunteers and health care providers working to
improve life for all individuals with haemophilia. I hold dear the
belief that the challenges we face living with haemophilia are not
insurmountable and with vigilance, dedication and understanding, can be
overcome.
Joe Guarnieri
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