Graphic symbolising genetics and rare bleeding disorders

Disease Awareness

Pharmaceutical Consulting: An Overview of Rare Bleeding Disorders

July 9th, 2017 - 0 Comments

Understanding the state of bleeding disorders and the role of personalized medicines in managing them

Time is always of the essence in healthcare. Researchers are continuously seeking new solutions to improve patient well-being and, ultimately, save lives. The discovery process of new treatments takes an enormous amount of time and resources because of the measures needed to generate reliable evidence to prove their safety and efficacy. Even after the discovery process is complete, there is a whole host of regulatory affair demands. It can take decades for new medications and treatments to become available to patients who need them desperately.

New digital health technologies are striving to make matters more precise, and arrive with the promise of personalized medicines. The knowledge on and management of Rare Bleeding Disorders (RBD) is suboptimal. Healthcare professionals often have insufficient diagnostic and treatment experience, and limited access to the diagnostic modalities required to accurately identify a bleeding disorder. Unfortunately, for these reasons, patients often experience morbidity and mortality due to delayed diagnosis.

The idea of precision medicine is to deliver the right treatment at the right time to the right patient. The expectations are high, and there are hopes for early medical breakthroughs. But, even though science and technology have progressed remarkably, the true potential of precision medicine is yet to be realized. So, affected individuals commonly face delayed diagnosis, incomplete laboratory evaluation, and limited treatment options.

However, new therapeutic modalities, both recombinant and plasma-derived, are emerging. Registries and clinical trials have demonstrated decreased bleeding and improved outcomes when patients are appropriately diagnosed and properly treated. The expansion and harmonization of international registries have been initiated to correlate genotype, laboratory, and clinical phenotypes including bleeding severity to improve the diagnosis and therapeutic approach.

Understanding the nature and complexity of bleeding disorders

A bleeding disorder is a health problem that makes it difficult to stop bleeding in an affected person. Blood clotting is an intricate process that involves as many as 20 different plasma proteins. All clotting proteins and platelets need to work effectively, and in the correct order, to form a proper clot strong enough to stop bleeding. A bleeding disorder occurs when the body is unable to activate the entire “clotting cascade” correctly.

This clotting cascade is characterized by complex pathways and individual variabilities, as illustrated below:

Constriction of blood vessels: Blood vessels at the site of injury start contracting to limit the blood flow to the affected area

Forming platelet plugs: Platelets spread on the injured vessel within fractions of seconds of an injury and release chemical signals to attract clotting factors

Creation of fibrin clot: There are around 13 clotting factors with Calcium, Vitamin K, and other Proteins combined to form a net and help to clot

If any of these steps fail, the sufferer will bleed for longer than normal and will be diagnosed with a bleeding disorder. Sometimes, even a small cut on any part of the body can become life threatening.

It is shown in various surveys that FVII (23%) and FXI (37%) deficiencies are the most prevalent RBDs and represent the highest percentage of the total affected population. In reality, the indication of varieties may not be considered as actuals. This difference could be due to the severe data gap among the countries deficient in the proper diagnosis and management of these disorders.

What can a personalized approach offer in terms of diagnosing and treating bleeding disorders?

Personalized medicine has been using genomic approaches to interpret the etiology of a disease, as well as to personalize the management of patients with a particular disease as per their genetic features. It benefits patients across a multitude of therapeutic areas, and advancements are particularly evident in hematology and oncology.

The use of genotype-based patient-centric care was introduced in 1994, with the introduction of Factor V and Prothrombin later. Since then, genetic tests became a regular practice in both thrombotic risk assessment and clinical decision making. Drugs like Warfarin and Clopidogrel are currently under clinical studies for personalized therapy.

Bleeding disorders account for the major mortality and morbidity in the world. The pathobiology for clotting disorders varies individually, depending on one’s genetic background and clinical risk factors. Likewise, the therapy for a clotting disorder is best given when it is tailored to one’s individual characteristics. With increasing drug options for antithrombotic treatments that target different disease pathways, individualized therapy will likely offer the best clinical outcomes with optimal therapeutic efficacy and minimal drug complications.

The available data suggests that the ability to understand the clinical features of a patient’s genetic profile and the knowledge of disease mechanisms are the keys to aid new diagnosis, therapies, prescriptions, and better healthcare.

In the next few years, more anti-thrombotic drugs will become available to prevent and treat bleeding disorders. Physicians will very soon have to make treatment decisions as per a patient’s clinical and genetic profiles, and the cost-effectiveness of the healthcare system. When this time comes, the patient pathway will be infinitely more pleasant, streamlined, and efficient.

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