Cystic Fibrosis: Diagnosis, Imaging, and Treatment Advances

Introduction: Cystic Fibrosis in the Modern Era

Cystic fibrosis (CF) is a disease that steals childhood, adolescence, and adulthood in an assault on the lungs and other vital organs, causing every aspect of a patient's life to revolve around diagnosis, care, and treatment. In the United Kingdom, CF has been identified by the Cystic Fibrosis Trust as the nation's most common inherited life-threatening disease (Cystic Fibrosis Trust, 2008). According to the Trust, more than 8,000 people in the UK suffer from the disease, and more than 2,000,000 people carry the defective CF gene — that is 1 in 25 people. It is an unrelenting condition that usually claims the life of its victim anywhere between birth and early adulthood, with few patients living beyond their early thirties.

Millions of dollars are donated to the Cystic Fibrosis Trust each year to fund research for new and innovative life-extending treatments and, ultimately, a cure. The work of the Trust and others who devote their lives to research are now working in an era of incredible technological advancement and information exchange, which holds great promise for eliminating CF in the future. This paper examines the history and pathology of the disease, methods of diagnosis, and advances in treatment and life expectancy as science explores the vast complexities of human genetics in unraveling the mysteries of cystic fibrosis.

The study begins with a literature review introducing the significant sources that form the bulk of this paper. The literature review is followed by five chapters: Chapter One covers the anatomy and physiology of the disease; Chapter Two covers imaging modalities; Chapter Three examines the unique role of MRI, as well as its drawbacks; Chapter Four addresses the drawbacks of other imaging modalities and the future of imaging technology in CF diagnosis and treatment; and Chapter Five presents a summary and conclusion.

Literature Review

Research of the past two decades has been especially prolific in the production of books and peer-reviewed journal articles addressing the diagnosis, treatment, and research advances in CF. Using keywords such as cystic fibrosis, cystic fibrosis pathology, CF radiology, CF lungs, CF pancreas, and CF digestive yielded thousands of books, journal articles, magazine articles, and newspaper articles. For the purposes of this study, non-peer-reviewed magazine or newspaper articles were eliminated, as were most sources older than ten years, with the exception of a few books and journal articles that help demonstrate the historical progression of diagnosis, treatment, and research in CF.

Of the remaining works, the field was narrowed to those contributing the most significant understanding of the research progress in improving the quality of life for individuals afflicted with the disease.

A.R. Colón and P.A. Colón's (1999) Nurturing Children: A History of Pediatrics discusses the early advancements in diagnosing CF through radiology. While radiology advanced diagnostics, it helped key researchers of the era understand and draw conclusions about CF.

"Identification and Assessment of Ongoing Stressors in Adolescents With a Chronic Illness: An Application of the Behavior-Analytic Model" by M. Digirolamo and Alexandra L. Quittner highlights the relationship between stress and chronic diseases (pp. 53–). The study involved 45 adolescents aged 12–17 with CF, and the findings have informed this paper.

Chris Bennett and Daniel Peckham's (2002) The Genetics of Cystic Fibrosis, available from Leeds Teaching Hospitals, provides input on the genetics of CF, contributing diagrams and statistical information to this paper.

Talissa A. Altes, Monika Eichinger, and Michael Puderbach's (2007) article "Magnetic Resonance Imaging of the Lung in Cystic Fibrosis" explores the advances MRI has brought to the body of knowledge on CF by imaging the changing condition as it impacts vital organs at different stages of the disease (pp. 321–327).

ZA Aziz, JC Davies, EW Alton, AU Wells, DM Geddes, and DM Hansel's "Computed Tomography and Cystic Fibrosis: Promises and Problems" (pp. 181–186) discusses CT's contribution to the progress of CF understanding through modern technology. The CT scan has contributed substantially to understanding CF and other diseases, and these authors examine the technology in terms of how it has advanced that understanding.

The availability of modern technologies does not justify careless use of those technologies. For people suffering from chronic illness like CF, risks are associated with being subjected to modern imaging, and physicians must therefore exercise cautious judgment. "Cystic Fibrosis: When Should High-Resolution Computed Tomography of the Chest Be Obtained?" by F. Santamaria, G. Grillo, G. Guidi, A. Rotondo, V. Raia, G. de Ritis, P. Sarnelli, M. Caterino, and L. Greco (pp. 908–913) addresses this question directly.

Cystic Fibrosis in Children and Adults: The Leeds Method of Management by S.P. Conway, J.M. Littlewood, K.G. Brownlee, and D.G. Peckham (2003), all members of the Leeds Regional CF Units at St. James's and Seacroft University Hospitals, provides an informative and useful account of the CF patient experience at these hospitals. The book recognizes the many staff positions and ancillary specialists who play vital roles in helping patients achieve and maintain quality of life in the face of this daunting illness.

Teresa Berrocal, Manuel Parron Pajares, and Amelia Fernandez Zubillaga (2004, pp. 305–309) discuss "Pancreatic Cystosis in Children and Young Adults with Cystic Fibrosis: Sonographic, CT, and MRI Findings," supporting the previously mentioned bodies of research. Clearly, modern technology and the ability of professionals to interpret these technologies has generated vast amounts of work analyzed from the peer-reviewed perspective, furthering other researchers and physicians in their own progress.

John C. Avise (2004) addresses the Hope, Hype, and Reality of Genetic Engineering as it relates to CF. Many people rely on expectations that genetic engineering has advanced to a point where it will be possible to save the lives of CF patients approaching critical stages of the disease. While that is a goal of genetic researchers and the hope of patients, families, and the medical community, the question of whether it is achievable in the near or distant future is discussed in his book.

Much has been investigated regarding existing technologies — CT, MRI, and radiological services — in advancing CF diagnosis and treatment. To what extent "New Tools, New Dilemmas: Genetic Frontiers" continue to present challenges is discussed by Kathleen Nolan and Sara Swenson (1988), providing a historical baseline for evaluating progress made over two decades. The official websites of the Cystic Fibrosis Foundation, the National Institutes of Health, and the Cystic Fibrosis Trust will each serve as sources of information throughout this paper. There is a wealth of available information, data, and studies on CF, and what it all means for patients who suffer from this debilitating and life-threatening disease will become clear as this paper proceeds.