The role of prophylaxis: How haemophilia patients can lead a normal life

Suraj (name changed), 11, dreams of becoming a scientist when he grows up. However, his goal seemed like a distant dream as he was diagnosed with haemophilia at the age of six. Due to his condition, he was limited to playing indoors, as playing outside could trigger a bleeding episode.

Sometimes, bleeds occurred spontaneously in his muscles, causing excruciating pain leading to decreased movement and missed school. During these episodes, he felt helpless and sad, wishing he could be normal like others. However, now right treatment is helping him live a normal life like others his age.

Suraj’s story highlights a significant shift in the treatment of haemophilia. Until the 1950s, nearly half the patients with this blood disorder did not survive past the age of 20. By the 1980s, the average lifespan had increased to 50 years. Today, newer therapies such as prophylaxis are changing patients’ lives.


How does prophylaxis help?

Haemophilia is a rare inherited bleeding disorder that occurs due to a deficiency of certain proteins called clotting factors, due to a defective gene. This hinders the blood’s ability to clot, causing patients to bleed for long periods after sustaining minor injuries or even spontaneously. As it progresses, it can cause bleeding in the joints, resulting in disability and reducing quality of life. In severe cases, it can also cause bleeding in the skull or affect other organs.

Effective management consists of controlling bleeds, preventing them, and minimizing damage to other parts of the body. Prophylaxis, which involves the regular administration of missing clotting factors intravenously, has emerged as a vital tool in this respect. Unlike on-demand therapy, which is provided only when a patient bleeds, prophylaxis is provided in anticipation of or to prevent bleeding. It has multiple benefits, including the prevention of bleeding episodes, fewer hospitalizations, improved quality of life, fewer muscle bleeds, reduced damage to joints and less joint surgery.

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Recent advancements in treatment have the potential to further improve the outlook for patients. These include extended half life factors which need to be given less often , monoclonal antibodies which can be taken at home by the patient himself like insulin and gene therapy, which involves administering a working copy of the defective gene to enable the production of the necessary clotting factors. These treatment methods are more convenient as they do not have to be administered as frequently as traditional infusions and do not disrupt patients’ daily routines.

Robust haemophilia management also requires tailored care and patient adherence. Every patient’s response to treatment may vary. Hence, healthcare professionals work with them to determine appropriate dosing and monitor outcomes and side effects. Patients must also regularly consult their doctor to adhere to their treatments and make lifestyle changes.

Haemophilia is not as terrifying as it was in the past. Newer prophylactic treatments have transformed how the bleeding disorder is managed, helping patients lead healthier lives. With continued advancements in gene therapy and clotting factor treatments, the future looks promising for patients. By adopting a proactive treatment strategy and adhering to personalized care plans, patients can not only prevent spontaneous bleeding but also enjoy a quality of life once thought unattainable.

(Dr Kapil Garg, Senior Professor & Head Pediatric Hematology Oncology Division, JK Lon Hospital, SMS Medical College, Jaipur)