The X Factor

Rare diseases have long been an individual and systematic burden in the United States, with an estimated 7,000 – 10,000 different conditions affecting 30 million people and costing nearly a trillion dollars in direct and indirect healthcare expenditures.

Within this category, rare inherited bleeding disorders (for example, deficiencies of fibrinogen, factors II, V, VII, X, XI and XIII) are individually discovered among one in 500,000 to one in 2 million people. Often, the diagnosis of these disorders is delayed and significant morbidity and mortality results. One of the most critical coagulation factors is factor X, due to its major role in facilitating the coagulation cascade and ensuring a balance between bleeding and blood clotting.

Meanwhile, hereditary factor X deficiency (HFXD) occurs in approximately one in 1,000,000 individuals and may result in nose bleeds, debilitating joint pain, menorrhagia and excessive bleeding after surgical procedures, or – in more severe cases – life-threatening bleeding situations such as intracranial haemorrhages and gastrointestinal bleeding.

Data day

During October, Hereditary Factor X Deficiency Awareness Day will present an opportunity to recognise the challenges faced by patients, while raising the level of understanding regarding diagnosis and treatment and providing a platform for continued dissemination of information regarding the condition.

This year, that information includes the results of the HFXD in America Survey – a first-of-its-kind cross-sectional survey of patients and their caregivers to assess challenges in the journey to diagnosis, treatment and quality of life.

The survey, led by Dr Brian Branchford, Associate Medical Director of the Versiti Medical Sciences Institute, is the first evaluation to quantify the unmet needs, assessment of treatments and disease burden specifically for individuals dealing with HFXD.

In addition to confirming the burden of disease, the survey data – presented this year at the Thrombosis and Hemostasis Summit of North America – also highlighted significant gaps in proper treatment, adherence to well accepted guidelines, and adverse impacts on quality of life and well-being.

“The impact of rare coagulation disorders on patients and their caregivers is often underrepresented. In addition to clinical data, it is critically important that we better understand how these disorders impact patients’ health and well-being. The HFXD in America Survey is an important step along that path for clinicians who provide care for patients with Hereditary Factor X Deficiency,” reflected Dr Branchford.

According to the survey results, the most common bleeding events were muscle haematomas (localised bleeding in the tissues), bruising, and haemarthrosis (bleeding into the joint spaces). Orthopaedic complications of HFXD and other rare bleeding disorders are not uncommon and can result in debilitating and sometimes permanent disability.

With proper diagnosis and early treatment, those complications can be more effectively managed, and long-term sequelae potentially ameliorated or avoided. While most survey respondents reported receiving some type of treatment to address bleeding, the treatments were varied, and significant gaps in the frequency of therapies being administered were evident.

Furthermore, almost 75% of survey respondents reported at least one bleeding episode in the four weeks prior to taking the survey, demonstrating that significant awareness and education is still needed to effectively diagnose, and apply available treatments.

Life-changing

While the HFXD in America Survey begins to provide the data we need to better understand how rare bleeding disorders impact patients’ lives, perhaps the best information comes directly from families affected by this genetic disorder.

One example of the significant impact of HFDX comes from Carly, a mother of two children and a survey respondent. Her first child was born more than twenty years ago, when far less was known about the impact of HFXD, and proper screening was not in place. Upon delivery, the child suffered a major intracranial haemorrhage and was left developmentally disabled and entirely dependent on family members for care.

“We were devastated by what happened to our first-born and strive every day to make sure both of our children receive the care, treatment and support they still need. A diagnosis of a rare bleeding disorder like Hereditary Factor X Deficiency will change your life forever,” said Carly.

When her second child was born, the Hereditary Factor X Deficiency diagnosis was made early, and treatment prevented adverse neonatal outcomes.

With advancements in research, new product development and treatment guidelines made over the last ten years, Carly has a more favourable outlook and a clear message for anyone diagnosed with HFXD.

“More and more doctors are becoming aware of rare bleeding disorders like Hereditary Factor X Deficiency, and there are targeted treatments available that can help keep our loved ones from significant harm. While we initially did not believe our second child would be able to live away from home, she was placed on a new treatment in 2015, able to administer the product herself, moved away to college, got her degree, and is now working on a PhD in neuroscience. She is living her best life and we could not be happier.”

Carly, however, insists that there is still a long way to go, and families dealing with HFXD need to be advocates for themselves, and be an active part of the HFXD community.

As we continue to learn more about HFXD and its impact on families, communities and our health-care system, we need to continuously address the need for more data, prompt diagnoses, and better treatment solutions and overall care. Hereditary Factor X Deficiency Awareness Day is just one measure to shine a light on the inherent challenges of rare bleeding disorders and HFXD.

This October, please join the Hereditary Factor X Deficiency community as we strive to raise awareness and support families dealing with rare, but treatable, bleeding disorders.

Eric Wolford is Vice President at Global Medical at Bio Products Laboratory. Go to bplgroup.com