Qualitative research highlights, for the first time in Europe, the struggle of patients with pulmonary hypertension associated with interstitial lung disease (PH-ILD), and underlines the urgent need to improve diagnosis and treatment pathways to ease the burden on patients.
A survey of doctors in several countries in Europe reveals that inconsistent screening practices and limited treatment options only increase delays in diagnosis and create gaps that prevent effective care, underscoring the need for licensed therapies and standardized therapeutic strategies.
Specialists highlight that early recognition of the symptoms of HP-PID and collaborative patient-centered approaches can improve the prognosis and quality of life of patients, and call for more clinical trials that reflect the true priorities of those affected.
Barcelona, 13 November 2024. Qualitative research carried out by clinical specialists, representatives of the European Association of Pulmonary Hypertension (PHA Europe) and the European Federation of Pulmonary Fibrosis (EU-PFF), ORPHA Strategy Consulting and Ferrer – an international B Corp certified pharmaceutical company – has revealed for the first time in Europe the lived experiences, perspectives, priorities and views of patients with HP-EPI and their caregivers1.
Pulmonary hypertension (PH) is a condition characterized by high blood pressure in the pulmonary arteries (the arteries that carry blood from the heart to the lungs),2 while interstitial lung disease (ILD) is a group of disorders that cause fibrosis and inflammation of lung tissue, reducing lung function and hindering oxygen transfer. 2 When both conditions occur at the same time, more serious and difficult-to-treat complications occur2.
The study, published in the peer-reviewed journal Pulmonary Circulation, collects impressions from people suffering from this debilitating disease and concludes that early recognition of the symptoms of HP-PID may be a turning point. Patients and caregivers pointed to significant difficulties and barriers in functioning in the health system and obtaining adequate information to reduce their considerable uncertainties.
As is often the case with rare diseases, there are no standardized approaches to the diagnosis of PH-PID in routine clinical practice. Hall Skaara of PHA Europe says: "Due to the complex nature of this disease, it takes an average of 2 to 3 years and at least 3 doctors to receive an accurate diagnosis of HP-PID."
Despite current treatment, the burden of disease remains high, affecting patients' daily well-being, with their persistent medical needs unable to be met due to the lack of satisfactory treatments, poor prognosis, and declining survival rates. This corroborates the numerous challenges that rare and complex diseases such as HP-PID pose for routine clinical practice, outside of centers specialized in pulmonary hypertension. Dr Lucilla Piccari, a pulmonologist at Hospital del Mar in Barcelona, Spain, and co-author of the study, stresses: "Time is crucial and early detection can translate into better outcomes."
Professor Gabor Kovacs from the University of Graz in Austria said: "Symptoms – especially shortness of breath – and physical limitations were identified as the most critical impacts for people suffering from HP-PID." Reduced mobility was the greatest physical limitation, affecting patients' ability to perform daily activities, enjoy their hobbies, play sports and enjoy travel. Steve Jones, EU-PFF representative, explains: "For these reasons, treatment expectations for HP-ILD, without considering cure, focus on improving patients' quality of life, particularly in relation to disease symptoms and physical functioning."
Participants in the study were patients with a confirmed diagnosis of HP-PID, in addition to their spouses, family members, or close friends with a primary caregiver role.
The results of the study are similar to those obtained in a previous study carried out in the United States3 , a country in which specific treatments for PH-ILD have been authorized, unlike in Europe, where none are currently available.
Challenges of treating HP-PID
A recent questionnaire-style survey has also revealed information on the clinical outlook for HP-ILD in Europe, specifically in France, Germany, Italy, Spain and the United Kingdom. 4 Despite the differences observed in each country, the study highlights the considerable unmet needs in the treatment of this rare disease, including the demand for robust screening and diagnostic protocols, and the need for effective and licensed therapies across Europe.
Participants were experienced pulmonologists, cardiologists, and rheumatologists who currently treat a median of 110 patients with ILD, 73 with PH, and 20 with PH-PID per year.
Most of these doctors highlighted "the lack of efficacy of the treatments used for an unauthorised indication, which were prescribed to treat the pulmonary hypertension component" as one of the main gaps in the treatment of PH-PID. Regarding the approach to the treatment of ILD, the clinicians reported using immunosuppressive and antifibrotic drugs in several of their patients with HP-ILD. These and other findings were recently published in an article by Professor David Montani and other experts in the peer-reviewed journal ERJ Open Research.
Clinicians' comments reinforce the notion that efforts should focus on education, multidisciplinary collaboration among specialists, and generating more data on HP-ILD and its subtypes. This will lead to the implementation of diagnostic and treatment guidelines, and improved outcomes for this group of patients with a serious condition.
The researchers noted that additional qualitative research that expands on these findings could support the patient-centered design of future clinical trials, effectively incorporating what matters most to patients and caregivers.
References:
Humbert M, Kovacs G, Hoeper MM, et al. 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension [published correction appears in Eur Heart J. 2023 Apr 17; 44(15):1312]. Eur Heart J. 2022; 43(38):3618-3731
DuBrock HM, Nathan SD, Reeve BB, et al. Pulmonary hypertension due to interstitial lung disease or chronic obstructive pulmonary disease: a patient experience study of symptoms and their impact on quality of life. Pulm Circ. 2021; 11(2):20458940211005641.
About Ferrer
At Ferrer, we use our business to fight for social justice. We have been a company that seeks to do things differently for a long time; Instead of maximizing shareholder returns, we reinvest much of our profits in social impact initiatives, putting support back where it belongs. We go beyond compliance and are guided by the highest standards of sustainability, ethics and integrity, which is why we have been B Corp certified since 2022.
Founded in Barcelona in 1959, Ferrer offers transformative solutions for life-threatening diseases in more than one hundred countries. In line with our purpose, we are increasingly focusing on vascular and interstitial lung diseases and rare neurological disorders. Our team of 1800 people is driven by a clear conviction: our business is not an end in itself, but a means to change lives.
We are Ferrer. Ferrer for good.
