Personalised Prophylaxis: The right approach to Hemophilia treatment - Times of India
Hemophilia afflicts ~1,36,000 (1 in 10,000 male births) in India of which ~19,690 Hem-A patients are registered. A rare genetic condition where the body's blood clotting process is disrupted; Hemophilia affects a person's lifestyle and overall health.
Normally, when a person receives a cut or injury, the blood undergoes clotting to prevent blood loss, but the blood does not clot in a typical way when it comes to patients with bleeding disorders. In case of surgery or other injuries, this condition can cause excessive and prolonged bleeding in a patient. Additionally, bleeding can also sometimes start spontaneously.
Understanding Hemophilia
Hemophilia A and B are bleeding disorders caused by low levels of clotting factors in the blood. Patients with hemophilia have low levels of either factor VIII or factor IX, increasing their chances of bleeding and causing major health implications.
Hemophilia is usually an inherited bleeding disorder and in rare cases, a person can develop hemophilia later in life. Most patients of hemophilia are men and rarely women as hemophilia is caused by a recessive genetic mutation in the X chromosome. Males inherit one X chromosome from their mother and one Y chromosome from their father. Whereas, females are born with two X chromosomes, one from each parent. The genes on the X chromosome have one copy in males and two copies in females. As a result, if the biological mother is a carrier of the gene, males have a 50% chance of inheriting hemophilia. Females with one altered gene can be carriers as well and pass the condition further to any children they may have.
Hemophilia can result in bleeding within the joints that can exert strain, resulting in excruciating pain. Internal bleeding, if left untreated, can lead to arthritis or joint degeneration. Swelling of the limbs can be caused by deep muscular bleeding that may put pressure on nerves, causing numbness or discomfort. If the bleeding occurs in the mouth or nose or throat or neck, it can make it extremely difficult for a patient to breathe. Though hemophilia is rare, it can have life-threatening complications depending on where the bleeding occurs. Internal bleeding in the head or brain can cause long-term problems, such as seizures and paralysis. In some cases, death can occur if the bleeding cannot be stopped in time.
Hemophilia can be treated by the replacement of missing blood clotting factors. This is typically done by injecting clotting factor concentrates into the patients. While on-demand treatment is given to the patient for episodic care to stop the bleeding, prophylaxis treatment can help in bleed management by maintaining minimum factor requirements.
Personalised approach – the way forward
The treatment for this disorder has evolved significantly in the past century. There has been a paradigm shift from a "one size fits all" treatment module to a more personalized approach.
Personalised prophylaxis considers specific patient parameters to determine the optimal prophylaxis schedule for each patient. This may reduce the number of infusions and/or a reduction in the total amount of factors administered. This is particularly important for patients who are on long-term treatment.
Personalised prophylaxis often encompasses a combination of medical and digital intervention.
The management of hemophilia patients requires meticulous documentation of bleeding events, infusion procedures, and adherence to treatment regimens, especially in extensively used home-based treatment. Web-based apps and tools support convenient personalized treatment with interactive prophylaxis and fast technology. The development of electronic apps has enabled the move from manual treatment diaries to online tracking, thanks to the widespread availability of online services and mobile phones.
An increasing number of digital platforms have been developed in mobile or web-based form for tracking treatment regimens of hemophilia patients. Different apps provide different functions, e.g., the patient can record their bleeds in increasing degrees of detail, including the date, duration, location, pain levels, complications, treatment given, and illustration of the lesion using a model, images, or videos. It can also help in locating HTCs in different countries for patients who are traveling or living overseas. Some digital platforms can help monitor factor levels and manage factor requirements through real-time tracking. This helps doctors adapt their treatment decisions and provide optimal care to the patients.
Many of these digital interventions also include educational content that is beneficial not just to the patients, but also to the caregivers. In most cases, the physician can communicate with the patient immediately through these real-time apps. A two-way contact between the patient and physician presents an opportunity to bridge the gap and provide a comprehensive care module.
Disclaimer
Views expressed above are the author's own.
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