World Haemophilia Day : 17 April
26 July 2018
Replacement therapy at young age can avert disability among patients
By Dr Naresh Gupta
Once considered as a ‘royal’ disease because of its association with the family of Queen Victoria, haemophilia is a blood disorder which mostly affects men. The clotting factors are either very
low or completely absent in people with haemophilia (PwH). People with severe haemophilia can bleed for days or weeks from even minor injuries or can even bleed spontaneously. People
in absence of adequate treatment often live with severe disabilities.
What is haemophilia?
In medical terms, haemophilia is a hereditary disorder of blood coagulation due to decreased levels or lack of clotting factors which results in profuse bleeding into joints, muscles or internal organs, either spontaneously or as a result of accidental or surgical trauma. The number of bleeding episodes may vary depending on the severity of the condition which is based on the level of residual clotting factors present in blood. By regular replacement therapy with clotting factors, the number of bleeding episodes can be reduced to the maximum possible extent.
Outcome of haemophilia
The lack of clotting factors causes profuse bleeding into joints, muscles or internal organs from injuries, sometimes even spontaneously. Because of repetitive bleeding in the joints, people with haemophilia tend to become progressively disabled. Our research in five developing countries namely India, South Africa, Algeria, Morocco and Oman revealed over 70% musculoskeletal disabilities in people with haemophilia.
With about 100,000 estimated patients, India has large burden of PwH. The progressive nature of the disabilities compels PwH in India to discontinue their education and remain unemployed. This is in stark contrast to other countries where the disability rates are much lower and PwH even participate in contact and adventure sports.
Caring for haemophilia
India has such high proportion of haemophilia-caused disability because most PwH are treated through on-demand therapy which means giving factors if and when there is a bleed. This on-demand therapy is like extinguishing a fire after the house has almost burned down. The alternative is called ‘replacement therapy’ or ‘prophylaxis’ therapy, which involves giving clotting factors regularly to prevent anticipated bleeding. If started at a young age, it can avert and/or halt the progression of joint disease and hence prevent disability among PwH.
A few centres across India have instituted pilot prophylaxis programmes in recent times with limited, but very encouraging results. These centres prove that such programmes can be run effectively even in India. The next steps is to take prophylaxis to PwH in India.
The right way to treat haemophilia
Treatment options like third generation recombinant clotting factors will further this cause as the newer agents are stable at room temperature and can be dispensed to patients at their convenience at a centre near their home. This ‘home therapy’ will allow better compliance to regular therapy as well as decreasing the total consumption of clotting factors.
Time for action on haemophilia
On a larger societal level, it is encouraging to note that haemophilia is now listed in ‘The Rights of Persons with Disabilities Act 2016’. The provisions of the Act make it incumbent upon “the appropriate governments to take effective measures to ensure that the persons with disabilities enjoy their rights equally with others.” This includes educational, financial and societal support as required such as accessibility to public buildings.
(The author is director-professor and treating doctor – Department of Medicine – at Lok Nayak Jai Prakash Narayan Hospital, New Delhi)