Familial Cold Autoinflammatory Syndrome and Multiple Sclerosis

Background Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory disorder with a spectrum ranging from the milder familial cold auto-inflammatory (FCAS) phenotype to more severe Muckle–Wells Syndrome. Although headaches are most common neurological symptoms, neuroinflammatory diseases such as multiple sclerosis (MS) have only been reported in phenotypes. Case Presentation We describe 43-year-old male diagnosed relapse-remitting MS who developed cold-induced arthralgias and urticaria. He initially presented facial numbness his late teenage years, brain magnetic resonance imaging (MRI) demonstrated lesions periventricular white matter extension. Oligoclonal bands were detected cerebrospinal fluid (CSF). Symptoms gradually improved, decade later he at upper limbs tongue. Brain spine MRI showed new lesions, but CSF was unremarkable. started on interferon β-1a symptomatic improvement until another flare around 13 years later. Treatment changed dimethyl fumarate. During this hospitalization, urticaria problematic particularly associated temperatures. This raised suspicion for possible CAPS subsequently confirmed A439V mutation NLRP3 gene, consistent FCAS. Anakinra not tolerated because of localized reactions despite desensitization. His serum amyloid A mildly elevated 9 mg/L (reference range 0–6). remains stable perspective, including imaging, continues Conclusions To date, FCAS association has described. The case raises challenges diagnosis concurrent disease processes. It also highlights that sequelae should be considered all spectrums CAPS, distinctions made where possible.