ADOPTING ORPHAN DISEASES RARE INTERSTITIAL LUNG DISEASES

adoptingorphandiseaseskapak

PATIENT PERSPECTIVE INRARE INTERSTITIAL LUNG DISEASES

Aycan Yüksel

TOBB Economics and Technology University, Faculty of Medicine, Department of Chest Diseases, Ankara, Türkiye

Yuksel A. Patient Perspective in Rare Interstitial Lung Diseases. In: Altinisik G, McCormack FX, editors. Adopting Orphan Diseases: Rare Interstitial Lung Diseases. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.197-208.

ABSTRACT

Rare interstitial lung diseases (ILDs) encompass a diverse group of conditions with low prevalence, including lymphangioleiomyomatosis (LAM), pulmonary Langerhans cell histiocytosis (PLCH), pulmonary alveolar proteinosis (PAP), and others. These diseases often involve multisystem manifestations and are characterized by prolonged diagnostic delays, limited treatment options, and a significant psychosocial burden. The rarity and clinical heterogeneity of these ILDs lead to their exclusion from large-scale trials, resulting in insufficient evidence-based guidelines and contributing to a sense of orphanity among patients. This chapter explores the diagnostic journey, emotional experiences, treatment expectations, and healthcare system interactions from the perspective of patients with rare ILDs. It highlights how misdiagnoses and long diagnostic delays exacerbate feelings of frustration and isolation in patients and their relatives. In many cases, patients report needing years to receive an accurate diagnosis, often after being misclassified as having more common diseases such as asthma. Emotional burdens such as anxiety, depression, and loss of identity are prevalent, particularly among women with LAM and patients with PAP and PLCH. Health-related quality of life (HRQoL) is consistently impaired in rare ILDs, even in patients with preserved lung function. Patient-reported outcome measures (PROMs) provide valuable insight into the lived experience of these conditions yet remain underutilized. The scarcity of disease-specific data limits the ability to tailor management strategies to patient needs. Patients consistently express expectations for symptom control, disease stabilization, manageable side effects, and access to clinical trials or future curative therapies. Their experiences with healthcare systems are often marked by limited access to specialized centers and a lack of disease-specific education and support resources. Multidisciplinary care and patient-centered approaches are emphasized as essential to improving care and quality of life. In conclusion, understanding patient perspective is crucial in the management of rare ILDs. In conclusion, physicians should address not only the medical but also the emotional and social needs of patients. Bridging the gap between clinical expertise and patient experience requires an empathetic, multidisciplinary, and holistic approach to care, which can ultimately enhance outcomes and patient satisfaction.

Keywords: Patient centered medicine; Interstitial lung diseases; Rare interstitial lung diseases; Diagnostic delay; Quality of life; Patient perspective; Orphan disease

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