A CASE OF AN UNRECOGNIZED AUTOINFLAMMATORY DISEASE

Abstract

<h3>Introduction</h3> Yao syndrome is an auto-inflammatory disease involving mutations in the nucleotide-binding oligomerization domain 2 gene. We describe a case of a patient with Yao syndrome who remained undiagnosed for years. <h3>Case Description</h3> A 50-year-old Caucasian woman with history of Coronary Artery Disease s/p coronary artery bypass graft, Diastolic Heart Failure, Type II Diabetes Mellitus and Hypertension was referred to Immunology for evaluation of elevated ESR (58-107 mm/hr) and CRP (1.7-5 mg/dL). She had previously seen Hematology, Infectious Disease, Dermatology, Gastrointestinal Disease and Rheumatology who had ruled out autoimmune, malignancy or infectious etiologies. She reported a 20-30 year history of recurrent fevers, diffuse arthralgias involving both small and large joints with intermittent lower extremity swelling non responsive to high dose Furosemide, episodic abdominal pain, vomiting, diarrhea, recurrent maculopapular, erythematous rashes on face/extremities and dry mouth/dry eyes. A periodic fever panel was sent which showed a c.2798 +158C>T heterozygous mutation in the NOD2 gene. She was started on Canakinumab with improvement in her dermatitis, arthralgia, and GI symptoms with decreased CRP (0.4-0.5 mg/dL) and ESR (24-29 mm/hr). <h3>Discussion</h3> With a prevalence of 1 in 10,000-100,000, this is an uncommon but not rare disease to encounter. Yao Syndrome diagnosis requires 2 major criteria (periodic occurrence, recurrent fever or dermatitis), at least 1 minor criteria (polyarthralgia/distal extremity swelling, abdominal pain/diarrhea, sicca-like symptoms, pericarditis/pleuritis), molecular criteria (NOD2 IVS8+158 or R702W) and exclusion criteria (high ANA/IBD/Blau Syndrome/Sarcoid/Sjogren). This case illustrates the importance of considering auto-inflammatory disorders for periodic inflammatory symptoms and the necessity for genetic testing.