Eight years of unexplained headaches (why did the diagnosis take so long?)

The patient had chronic incapacitating headaches for a period of eight years. Neurologic tests ruling out organic causes such as tumors and analysis of diet, allergies, stress levels, and chronic infections left the patient and physicians without an explanation. The headaches did not fit the patterns of common or classic migraines. The patient's energy level had significantly decreased during this same time period, and she had frequently become short of breath. Diagnosis of underlying pathology occurred when efforts were focused on explaining respiratory conditions. The patient had an oxygen saturation of 77% and a pulse of 98, following a brief walk around the building. Further testing by a pulmonary specialist confirmed diagnosis of emphysema secondary to a deficiency of Alpha-1 Antitrypsin (AAT). Background materials supporting this case history include: a model for AAT function, genetics of AAT deficiency, pathophysiology of both liver and pulmonary diseases, and a summary of treatment options and prognosis for AAT deficient patients.