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.