What General Neurologists Should Know about Autoinflammatory Syndromes?

Abstract

Autoinflammatory disorders encompass a wide range of conditions with systemic and neurological symptoms, which can be acquired or inherited. These diseases are characterized by an abnormal response of the innate immune system, leading to an excessive inflammatory reaction. On the other hand, autoimmune diseases result from dysregulation of the adaptive immune response. Disease flares are characterized by systemic inflammation affecting the skin, muscles, joints, serosa, and eyes, accompanied by unexplained fever and elevated acute phase reactants. Autoinflammatory syndromes can present with various neurological manifestations, such as aseptic meningitis, meningoencephalitis, sensorineural hearing loss, and others. Early recognition of these manifestations by general neurologists can have a significant impact on the prognosis of patients. Timely and targeted therapy can prevent long-term disability by reducing chronic inflammation. This review provides an overview of recently reported neuroinflammatory phenotypes, with a specific focus on genetic factors, clinical manifestations, and treatment options. General neurologists should have a good understanding of these important diseases.

Patient Experiences and Challenges in the Management of Autoinflammatory Diseases—Data from the International FMF & AID Global Association Survey

“…The survey also reveals that pain is one of the predominant causes of disability in AID [ 41 , 42 , 43 , 44 , 45 ]. Only 10% of patients reported they were pain-free.…”

“…Additionally, fatigue is a major component of AID and is described by patients as profoundly debilitating, impacting every aspect of their lives [ 38 , 39 , 45 , 46 , 47 , 48 , 49 ]. Consequently, fatigue may severely affect wellbeing, causing a financial burden for the individual, family, and society.…”

“…However, it is also important to consider that all-age patients expressing symptoms be cognitively evaluated by a neuropsychology specialist for executive function deficiencies, short/long-term memory retrieval, educational disabilities, ADHD, etc. These types of evaluations and findings will ensure that learning and workplace productivity can be optimized by incorporating accommodations and treatments as needed, thus allowing for robust patient functionality [ 45 , 47 , 48 , 49 ].…”

Editorial for Brain Sciences Special Issue: “Neurogenetic Disorders across Human Life: From Infancy to Adulthood”

“…Finally, some conditions bridge the gap between autoimmune and genetic disease in both children and adults. Moraes and colleagues discuss autoinflammatory diseases from a neurologist´s perspective, providing interesting insights for clinicians [8]. A comprehensive understanding of neurogenetic diseases from infancy to adulthood may improve diagnostic procedures and provide insights into unmet therapeutic needs [9].…”