Cryopyrin-Associated Periodic Syndromes
(CAPS)
A look into an emerging rare genetic disorder: A Case Study

Rebecca Nelson
MLS 465
*The patient history, results, and diagnosis in this case study are real. Patient consent was obtained.

Overview: A healthy female adult made a new patient appointment to be seen who was experiencing joint pain in her right knee, having trouble walking as result, and felt slightly ill (malaise). Patient arrived to physician’s office limping with limited mobility of right knee, the use of crutches was needed for patient to move. Upon examination, the physician noticed raised hives (urticarial rash) on back, stomach, and arms as well as extreme redness in the left eye similar to conjunctivitis. Patient wanted instant relief for joint pain and indicated other symptoms are ‘normal’ and have been consistent symptoms since birth. Patient temperature was 99.0 degrees Fahrenheit.
Full Patient History: Patient was born in a dry desert environment but had spent 8 years in a mountainous city with cold winters. Patient had been back in dry desert environment for 4 months when this appointment was made. Patient has travelled to Nicaragua for two months in 2007 and Costa Rica for 5 weeks in 2009. First indication of symptoms was a full case of urticarial, extreme joint pain, and what the patient described as partial paralysis due to joint pain around the ages of 3-4. Patient did not have medical records but reports tests were completed upon admission to the ER and no diagnosis was made. At the age of 6, patient …show more content…
Patients’ father does not exhibit flu-like symptoms or mouth ulcers. The father’s primary care physician believes his symptoms are not genetic and would not be passed onto children. Father was given an initial diagnosis of urticarial vasculitis and an undiagnosed food