World Scleroderma Day: How Recognising Connections Between Rare Diseases May Lead to Better Patient Outcomes
Today marks World Scleroderma Day. First celebrated in Europe in 2009 by the Federation of European Scleroderma Associations (FESCA), it is a moment to recognise the bravery of those who live with scleroderma and to spotlight how we can work towards equal and timely access to specialised treatment and care across the region. For my colleagues and I, it is an opportunity to reflect on the challenges that scleroderma patients face and how Janssen and the wider medical community can best support people living with this rare disease.
Scleroderma is a condition that many people may not be familiar with. In short, it is a chronic connective tissue disorder (CTD) that affects an estimated 32 people per 100,000 globally.1 There are two main types of scleroderma; localised scleroderma and systemic sclerosis (SSc).2 Localised scleroderma mainly affects the skin only, while SSc is often more severe and affects the internal organs.2 You may be shocked to know that the leading cause of death in SSc is another rare disease, the cardiopulmonary condition pulmonary arterial hypertension (PAH), which affects up to 12% of SSc patients.3 PAH is a specific form of pulmonary hypertension (PH), which is caused when the arteries in the lungs become narrowed, thickened, or stiff, forcing the right side of the heart to work harder.4
Unfortunately, SSc-PAH is often diagnosed at an advanced stage, contributing to poor outcomes.5 50% of SSc-PAH patients die within three years of PAH diagnosis and mortality in SSc-associated PAH is three times higher than some other forms of PAH.3 Early and accurate diagnosis of SSc-PAH is therefore vitally important. By increasing awareness of PAH among both the scleroderma and wider medical community, we have the opportunity to facilitate earlier diagnosis and improve patient outcomes.
Early diagnosis of SSC-PAH can improve outcomes3
PAH diagnosis can be challenging and requires referral to a specialist. The symptoms that people living with PAH experience are similar to more common conditions like asthma, which means it can take an average of two years,6 and in some cases four years,7 from the onset of symptoms to confirmed diagnosis. Diagnosis is particularly challenging in SSc-PAH, as patients tend to be asymptomatic in early-stage disease, and late-stage patients often have other cardiopulmonary complications and comorbidities.3 This is compounded by the relatively low awareness of PAH among general practitioners and healthcare professionals that could play a role in referral to PAH specialists.
While we are lucky in the EMEA region to have very knowledgeable specialists in PAH, accurate and timely referral remains a challenge. With the high incidence of PAH among SSc patients, rheumatologists are a vital audience for PAH education programmes, to enable them to identify signs and potential suspicion of PAH at an early stage and refer patients to a PAH specialist for confirmatory diagnosis before the disease has a chance to progress further.
How Janssen is working to improve SSc-PAH outcomes
Close collaboration with medical and patient communities is vital to overcoming these barriers, and we are working on a number of supportive initiatives. We recently developed and launched alPHa, a peer-to-peer digital learning platform. It is driven by trained facilitators and designed to educate healthcare professionals on PAH in order to support accurate, timely diagnosis and optimal PAH management. The alPHa learning platform contains dedicated resources to help enhance screening and identification of PAH within at-risk patient populations, such as SSc, and to help build effective clinical referral pathways. We also supported the DETECT study, in collaboration with the global medical community, to develop the first evidence-based algorithm for PAH detection in SSc. The algorithm assesses risk of PAH in SSc and identifies patients at higher risk of PAH, helping to minimise potential missed diagnoses.8 Furthermore, we are maintaining engagement with medical communities through our presence at key events, such as the Systemic Sclerosis World Congress and the European Alliance of Associations for Rheumatology (EULAR) congress, which are important platforms that allow us to discuss the latest research, deliver medical education and share best practices in SSc-PAH multidisciplinary care. Our EMEA Medical Affairs team, led by my colleague Mark Graham, are also looking to advance research and evidence generation in this area, in collaboration with the clinical community.
Importantly, we are also continuing to expand our support and solutions for people living with PAH. Our PAH Patient Charter, which was developed in partnership with a multidisciplinary panel of healthcare professionals and patient groups, sets out the standards of holistic care that we believe everyone with PAH should receive. I am particularly proud of PH Human, our central patient education and empowerment programme for people living with or affected by PAH, which provides resources to support patients through their diagnoses and treatment. In addition to providing high quality disease information, we are developing tools and engaging materials to support patients in learning from peers and therefore enable them to play a more active role in their management and disease monitoring.
Our bold ambition
We must continue to use key awareness events such as World Scleroderma Day to expand the knowledge base across the region on PAH and facilitate earlier diagnosis. People living with SSc are at high risk of developing this dangerous disease, and the earlier patients are diagnosed, the better their outcomes. Looking to the future, I hope we will soon be able to identify early signs of PAH using biomarkers and innovative, cutting-edge technologies. Today, however, I am focussing on working with my team across the region to roll out activities and initiatives that will help educate the wider medical community on PAH and enhance multidisciplinary collaboration to fast-track diagnosis.
I’m proud of the work our team at Janssen is doing, as we aim to transform PAH into a long-term, manageable condition so that patients can live a normal life. It is only by working together across the region and across specialisms that we can achieve this bold ambition.