Critical Care Clinics - Volume 17: Undiagnosed and Rare Diseases in Critical Care

Patients with undiagnosed and rare diseases (URDs) face additional barriers to timely and accurate diagnosis when presenting with critical illness: in addition to the risk of diagnostic error, critically ill patients with URD, by virtue of their physiologic instability, often confront challenges in diagnostic access, the ability to be evaluated in a health care environment with the requisite resources capable of producing a timely, accurate, and satisfactory explanation for a patient's signs and symptoms. Improving outcomes for critically ill patients with URD requires recognizing the possibility of an undiagnosed or rare condition leading to critical illness, mitigating the risk of diagnostic error, and reducing inequities in diagnostic access.