Educational aspects of rare and orphan lung diseases

Introduction: Pulmonary fibrosis includes a spectrum of diseases and is incurable. There is a variation in disease course, but it is often progressive leading to increased breathlessness, impaired quality of life, and decreased life expectancy. Detection of pulmonary fibrosis is challenging, which contributes to considerable delays in diagnosis and treatment. More knowledge about the diagnostic journey from patients' perspective is needed to improve the diagnostic pathway. The aims of this study were to evaluate the time to diagnosis of pulmonary fibrosis, identify potential reasons for delays, and document patients emotions.Methods: Members of European patient organisations, with a self-reported diagnosis of pulmonary fibrosis, were invited to participate in an online survey. The survey assessed the diagnostic pathway retrospectively, focusing on four stages: (1) time from initial symptoms to first appointment in primary care; (2) time to hospital referral; (3) time to first hospital appointment; (4) time to final diagnosis. It comprised open-ended and closed questions focusing on time to diagnosis, factors contributing to delays, diagnostic tests, patient emotions, and information provision.Results: Two hundred and seventy three participants (214 idiopathic pulmonary fibrosis, 28 sarcoidosis, 31 other) from 13 countries responded. Forty percent of individuals took ≥1 year to receive a final diagnosis. Greatest delays were reported in stage 1, with only 50.2% making an appointment within 3 months. For stage 2, 73.3% reported a hospital referral within three primary care visits. However, 9.9% reported six or more visits. After referral, 76.9% of patients were assessed by a specialist within 3 months (stage 3) and 62.6% received a final diagnosis within 3 months of their first hospital visit (stage 4). Emotions during the journey were overall negative. A major need for more information and support during and after the diagnostic process was identified.Conclusion: The time to diagnose pulmonary fibrosis varies widely across Europe. Delays occur at each stage of the diagnostic pathway. Raising awareness about pulmonary fibrosis amongst the general population and healthcare workers is essential to shorten the time to diagnosis. Furthermore, there remains a need to provide patients with sufficient information and support at all stages of their diagnostic journey.

Background The Internet is commonly used by patients to acquire health information. To date, no studies have evaluated the quality of information available on YouTube regarding lymphangioleiomyomatosis (LAM). Our aim was to determine the quality and content of YouTube videos regarding LAM and to compare the information provided with current knowledge and guidelines about the disease. Methods The first 200 video hits on YouTube in English for the search term “lymphangioleiomyomatosis” were recorded. All videos suitable for patient education on LAM were included. Video quality was analyzed independently by two investigators utilizing the Health on the Net (HONcode) score, which assesses whether websites provide understandable, accessible, and trustworthy health information; the DISCERN score, which evaluates the quality of information about treatment decisions; and a newly developed LAM-related content score (LRCS) with 31 guideline elements. Results The search identified 64 eligible videos. The “engagement rate” of 0.3 was low, with a median number of views of 408 (range 42–73,943), a median of 4 likes (range 0–2082), and the majority (53%) receiving a low HONcode score (≤ 2) and only 10% of videos achieving a high score (> 5). The median DISCERN score was 28 (range 15–61, maximum possible score 80), indicating poor video quality and reliability. The median LRCS was 8 (range 0–29, maximum possible score 31) and videos frequently failed to provide sources of information. Conclusions Online resources could contribute to the limited and often inaccurate information available to patients with LAM, with only a few YouTube videos providing high-quality patient-relevant information.

Orphan diseases are diverse group of disorders that have not gained much of public attention as they are rarely reported worldwide. The term orphan and rare diseases are often used interchangeably when describing diseases that fall into an orphan or rare category. Around 80% of orphan diseases are chronic, serious, or life threatening, are of genetic origin, and are more prevalent in children and in adults above 40 years of age. Due to rarity, lack of financial support and specific drug to treat these diseases, diagnosis, and treatment becomes challenging. Diagnosis is usually delayed, and patient continues to suffer by seeking multiple specialist opinion. Nonavailability of specific drug and lack of financial funding or waivers to conduct to conduct clinical trial for invention of new orphan drug are the obstacles for targeted treatment. Hence, there is need for comprehensive integrative approach to manage orphan disease patients and pharmaceutical companies should be encouraged for invention of drugs at a reasonable cost for orphan diseases. In addition, community education through genetic-based learning modules is essential to increase awareness of population about risk factors and early diagnosis of orphan diseases, and to take opinion of specific specialist for thorough clinical evaluation. This review discusses challenges faced by the specialists toward diagnosis and treatment of orphan disease for well-being of an individual living with the disorder.