Faculty Mentor
Dr. Amy Mundorff
Department (e.g. History, Chemistry, Finance, etc.)
Anthropology
College (e.g. College of Engineering, College of Arts & Sciences, Haslam College of Business, etc.)
College of Arts & Sciences
Year
2019
Abstract
Cystic fibrosis (CF) is an inherited disorder that affects the mucosal lining of the lungs and digestive system due to a defective gene that causes blockages of tubes, ducts, and passageways. The type of mutation correlates with the severity of the condition, but with modern medicine individuals can live into their 50s. We propose a differential diagnosis for identifying CF in the skeleton based on bony pathologies that occur in higher frequency in CF patients. CF patients exhibit chronic sinusitis, clubbing of hands and feet, vertebral fractures/collapse and abnormal curvature, significantly shorter stature, lower bone density, rib fractures, and an increased chest diameter. While each pathology can occur related to other diseases, trauma, or variation, we argue that skeletally, if observed collectively, it would be sufficient evidence to suggest an individual had CF. Most significantly, a medial bulge in the nasal walls of CF patients is a unique etiology, distinguishing them from the non-CF population. While prehistorically, life expectancy would have been much shorter, it is important to note that living close to the salty air of the ocean would have mitigated CF symptoms. In a bioarcheological coastal population, an individual with a less-severe gene mutation might have survived longer.
Included in
Archaeological Anthropology Commons, Biological and Physical Anthropology Commons, Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons, Forensic Science and Technology Commons
Identifying Cystic Fibrosis (CF) Skeletally: A Proposed Differential Diagnosis
Cystic fibrosis (CF) is an inherited disorder that affects the mucosal lining of the lungs and digestive system due to a defective gene that causes blockages of tubes, ducts, and passageways. The type of mutation correlates with the severity of the condition, but with modern medicine individuals can live into their 50s. We propose a differential diagnosis for identifying CF in the skeleton based on bony pathologies that occur in higher frequency in CF patients. CF patients exhibit chronic sinusitis, clubbing of hands and feet, vertebral fractures/collapse and abnormal curvature, significantly shorter stature, lower bone density, rib fractures, and an increased chest diameter. While each pathology can occur related to other diseases, trauma, or variation, we argue that skeletally, if observed collectively, it would be sufficient evidence to suggest an individual had CF. Most significantly, a medial bulge in the nasal walls of CF patients is a unique etiology, distinguishing them from the non-CF population. While prehistorically, life expectancy would have been much shorter, it is important to note that living close to the salty air of the ocean would have mitigated CF symptoms. In a bioarcheological coastal population, an individual with a less-severe gene mutation might have survived longer.