Adopting Orphan Diseases: Rare Interstitial Lung Diseases was conceived and brought to life to meet a pressing need in the field of respiratory medicine. These conditions, encountered only rarely—and in some cases, exceedingly rarely—remain insufficiently understood in their biopsychosocial dimensions. Opportunities for research are often constrained by the limited number of patients or by the lack of interest from industry. Against this background, we aimed to bring together up-to-date theoretical knowledge with the realities of medical practice.
Within this practice, we sought to address a broad spectrum— from the role of these diseases in undergraduate and postgraduate education to the patient perspective, from advocacy efforts to visions for the future. It has been a particular source of joy for us to see this book, with international reach and contributions from some of the foremost experts in the field, completed in a spirit of collective wisdom and in what could be considered a record time. The invaluable contributions of each author have allowed us to create a resource designed to support physicians eager to deepen their understanding of these diseases and to better serve their patients. We wished to provide a reference to which a physician faced with a rare interstitial lung disease might turn, enabling them to navigate the process in the most appropriate way.
Another distinctive feature of this book is its attention to the social dimensions of rare interstitial lung diseases. One chapter, enriched by the history of the LAM Foundation and LAMposium, shares a real story that brings forward both the patient and caregiver perspective—an inspiring example of patient advocacy. We sincerely hope this will encourage similar efforts and serve as a source of inspiration for the active participation of patients and their families in these journeys.
We owe our gratitude to all our contributing authors, to the publication team, and to the dedicated scientists who, long before us, devoted themselves to adopting orphan diseases and laid the groundwork for this book. However rare a disease may be, for the patient who receives the diagnosis and for their loved ones, and for the physicians striving to provide the best possible care, we hope this book will offer both knowledge and breath.
Prof. Dr. Göksel ALTINIŞIK ERGUR
Pamukkale University, Faculty of Medicine,
Department of Chest Diseases, Denizli, Türkiye
Prof. Dr. Francis X. MCCORMACK
Cincinnati University, Faculty of Medicine,
Department of Internal Medicine, Division of Pulmonary Critical Care,
and Sleep Medicine, Cincinnati, USA
Bölümler
01 | An Overview of Rare Interstitial Lung Diseases
Göksel ALTINIŞIK, Francis X. MCCORMACK
02 | Differential Diagnosis in Rare Interstitial Lung Diseases Through Radiological Hints
Furkan UFUK
03 | Pulmonary Alveolar Proteinosis
Nazlı ÇETİN
04 | Pulmonary Alveolar Microlitiasis
Nilüfer YİĞİT
05 | Acute Silicosis/Silicoproteinosis
Metin AKGÜN
06 | Birt-Hogg-Dubé Syndrome
Orkun Eray TERZİ, Elif Yelda ÖZGÜN NİKSARLIOĞLU
07 | Lymphangioleiomyomatosis
Lauren A. HIPP, Nishant GUPTA
08 | Pulmonary Langerhans Cell Histiocytosis
Nilüfer YİĞİT, Erhan UĞURLU
09 | Hermansky-Pudlak Syndrome
Merve ERÇELİK
10 | Familial Interstitial Pneumonias (SP-C/Telomere Shortening/ABCA3)
Demet POLAT YULUĞ, Eylem SERCAN ÖZGÜR
11 | Pulmonary Amyloidosis
Yonca SEKİBAĞ, Şermin BÖREKÇİ
12 | Pleuroparenchymal Fibroelastosis
Özlem ÖZDEMİR KUMBASAR
13 | Thoracic Involvement in IgG4-Related Diseases
Merve Sinem OĞUZ, Züleyha BİNGÖL
14 | Rare Interstitial Lung Diseases in Medical and Postgraduate Education
Ilgım VARDALOĞLU, Göksel ALTINIŞIK
15 | Patient Perspective in Rare Interstitial Lung Diseases
Aycan YÜKSEL
16 | The LAM Story: From Grass Roots Patient Advocacy to an Effective Treatment
Sue BYRNES, Francis X. MCCORMACK
17 | End-of-Life Care in Rare Interstitial Lung Diseases
Burcu ÖZALP, Meltem UYAR
18 | Telemedicine Opportunities for Rare Interstitial Lung Diseases
Nazlı ÇETİN, Gülfem ÖZDUYGU
19 | Lung Transplantation in Rare Interstitial Lung Diseases
Ayşe Nigar İZGİ, Sevinç ÇITAK
20 | Pulmoner Rehabilitation in Rare Interstitial Lung Diseases
Ayşenur YILMAZ
21 | Future Perspective on Rare Interstitial Lung Diseases
Maria MOLINA MOLINA