Delayed amyotrophic lateral sclerosis diagnosis with subtle cardiac manifestations: Was anchoring bias contributory?

Abstract

AbstractAmyotrophic lateral sclerosis (ALS) is a rare, progressive neurodegenerative disease affecting both upper and lower motor neurons. Throughout medical training, it is taught that the most recognizable clinical presentation involves both motor and bulbar changes. Given the complexity of the diagnosis however, it is no surprise that there is significant multisystem involvement secondary to the autonomic dysfunction associated with the disease. The clinical cognitive biases that exist due to prior educational training and patient provided chief complaint can mislead clinicians and prevent a holistic, inclusive approach toward each patient encounter. This can delay diagnosis and increase unnecessary healthcare spending. In a disease with such a poor prognosis, this effect can be catastrophic, resulting in unacceptable medical, functional, and psychosocial outcomes. As clinicians, it is imperative to acknowledge these cognitive biases through introspection, which can improve clinical outcomes and ultimately patient quality of life for those facing this devastating disease. We report a case of a 55‐year‐old female who presented with a chief complaint of palpitations and minimal slurred speech on multiple encounters, subsequently leading to a focused cardiovascular workup. It was not until after several hospital encounters that a thorough functional and neuromuscular exam was performed, which ultimately helped to broaden the differential and lead to the diagnosis of ALS. Unfortunately, due to this delayed diagnosis, the patient's functionality was beyond repair. Given the underlying cognitive biases that are present in all clinicians, we hypothesize this patient's sex, presenting symptom, and primary chief complaint misled clinicians to perform limited history and physical examinations, therefore, leading to a narrowed differential. If diagnosed in a timely fashion, vital services such as rehabilitation could have provided this patient with the necessary medical, functional, and psychosocial support to face this devastating disease.