Diagnosing a rare disease can be like finding a needle in a haystack. But what if that needle was made from iron, and you found yourself in possession of a giant magnet? Suddenly the task is significantly less daunting.

Pulmonary arterial hypertension (PAH) is one of these rare diseases. A progressive and life-threatening condition, PAH affects around 15-60 people, per million in Europe.^1-3 Part of the reason it’s so challenging to diagnose is that PAH symptoms often mimic other conditions like asthma and COPD.²

Fortunately over the last 20+ years, ongoing research into PAH and treatment developments have meant life expectancy has improved,^1,2,4 and we are lucky in the EMEA region to have very knowledgeable specialists in PAH, as demonstrated at the recent ESC and ERS Congresses.

But despite progress and enhanced imaging techniques in primary care, accurate and timely referral is still a challenge, an in some cases, it might take up to four years for a person to be diagnosed. By the time a diagnosis is found, the disease may have progressed significantly, with potentially devastating impact.^1,3,5,6 Five-year survival for those diagnosed with severe PAH is just 27%; worse than many cancers.^7,8

The good news is earlier diagnosis can lead to better outcomes.^1,3

So, how do we accelerate earlier diagnosis? For me, it is a 3-fold synergy: education, technology, and collaboration.  

Take the Systemic Sclerosis (SSc) World Congress. PAH is a serious complication of connective tissue disorders such as SSc.^3,9 This event provided a perfect opportunity to exchange knowledge on the latest frontiers in SSc-PAH and how to accelerate access to much-needed treatments.  

And at Janssen, we’re determined to supplement PAH expertise like this with technological innovation. For example, our EchoRightPro app helps to educate physicians to spot early signs of PAH through echocardiography, allowing early referral to specialist physicians.

I also recognise we cannot achieve our goals in silos – cross-sector collaboration is key. We are forging partnerships to help explore the potential of augmenting existing imaging tools through data sciences. Our aim in harnessing these new technologies is to help raise suspicion of PAH earlier in the patient journey, facilitating faster referral to subsequent testing and significantly decreasing the time to diagnosis.

It’s great to see initiatives like these carve a clear path forward to improving the outlook for PAH. But of course, all these fantastic innovations are somewhat redundant if they don’t add real value to our patients. We remain committed to partnering with experts and patients associations, using their unparalleled insight to understand and address unmet needs that will make a meaningful difference.  

My hope is that with advancing technology and increased knowledge sharing, we can find the needle in the haystack quicker, enabling people with PAH to be diagnosed earlier and access life-changing treatment sooner.

References: 

1. Vachiéry JL, Gaine S. Challenges in the diagnosis and treatment of pulmonary arterial hypertension. Eur Respir Rev 2012; 21:313-20.
2. Hoeper MG, Gibbs SR. The changing landscape of pulmonary arterial hypertension and implications for patient care. Eur Respir Rev 2014; 23:450-7.
3. Galiè N, et al. 2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension. Eur Heart J 2016; 37:67-119.
4. Benza RL, et al. An Evaluation of Long-term Survival From Time of Diagnosis in Pulmonary Arterial Hypertension From the REVEAL Registry. Chest 2012; 142:448-56.
5. Brown LM, et al. Delay in Recognition of Pulmonary Arterial Hypertension. Factors Identified From the REVEAL Registry. CHEST 2011; 140(1):19-26.
6. Armstrong I, et al. The patient experience of pulmonary hypertension: a large cross sectional study of UK patients. BMC Pulm Med 2019; 19:67.
7. Siegel RL, et al. Cancer Statistics. CA Cancer J Clin 2015; 65:5-29.
8. Farber HW, et al. Five-Year Outcomes of Patients Enrolled in the REVEAL Registry. CHEST 2015; 148(4):1043-1054.
9. NHS. Scleroderma. Available at: https://www.nhs.uk/conditions/scleroderma/ Last accessed: September 2022.