Clinical, imaging features and outcomes of patients with anti-GFAP antibodies: a retrospective study

Abstract

ObjectiveTo evaluate and compare the clinical features, imaging, overlapping antibodies, and prognosis of pediatric and adult patients with anti-GFAP antibodies.MethodsThis study included 59 patients with anti-GFAP antibodies (28 females and 31 males) who were admitted between December 2019 and September 2022.ResultsOut of 59 patients, 18 were children (under 18 years old), and 31 were adults. The overall cohort’s median age at onset was 32 years old, 7 for children, and 42 for adults. There were 23 (41.1%) patients with prodromic infection, 1 (1.7%) patient with a tumor, 29 (53.7%) patients with other non-neurological autoimmune diseases, and 17 (22.8%) patients with hyponatremia. Fourteen (23.7%) patients had multiple neural autoantibodies, with the AQP4 antibody being the most common. Encephalitis (30.5%) was the most common phenotypic syndrome. Common clinical symptoms included fever (59.3%), headache (47.5%), nausea and vomiting (35.6%), limb weakness (35.6%), and disturbance of consciousness (33.9%). Brain MRI lesions were primarily located in the cortex/subcortex (37.3%), brainstem (27.1%), thalamus (23.7%), and basal ganglia (22.0%). Spinal cord MRI lesions often involved the cervical and thoracic spinal cord. There was no statistically significant difference in the MRI lesion site between children and adults. Out of 58 patients, 47 (81.0%) had a monophasic course, and 4 died. The last follow-up showed that 41/58 (80.7%) patients had an improved functional outcome (mRS <3), and children were more likely than adults to have no residual disability symptoms (p = 0.001).ConclusionThere was no statistically significant difference in clinical symptoms and imaging findings between children and adult patients with anti-GFAP antibodies; Patients with anti-GFAP antibodies may present with normal MRI findings or delayed MRI abnormalities, and patients with overlapping antibodies were common. Most patients had monophasic courses, and those with overlapping antibodies were more likely to relapse. Children were more likely than adults to have no disability. Finally, we hypothesize that the presence of anti-GFAP antibodies is a non-specific witness of inflammation.

Comparison of glial fibrillary acidic protein-immunoglobulin G-associated myelitis with myelin oligodendrocyte glycoprotein-immunoglobulin G-associated myelitis

“…Based on a previous study (14), the "H sign" of spinal MRI, which is confined to the gray matter, may also be an imaging feature that distinguishes the two types of myelitis. Overlapping antibodies were observed for both autoimmune GFAP-A and MOGAD (26). Six patients in our study with a combination of other neurological autoantibodies had a younger age of onset (maximum age, 35 years).…”

Unveiling Distinctive MRI Characteristics in the Diagnosis of GFAP Astrocytopathy: A Rare Autoimmune Neuroinflammatory Disorder

“…[ 5 9 ] Overlapping antibodies such as anti-NMDAR and anti-AQP4 antibody are common, but in our case, these were absent. Most patients have monophasic courses[ 2 ]; those with overlapping antibodies are more prone to relapses.…”

“…[ 8 ] Initial brain MRI reveals nonspecific findings, but careful re-examination and follow-up reveal characteristic autoimmune GFAP astrocytopathy findings, as described in a few studies. [ 12 13 ] Other MRI findings include symmetric, small T2/FLAIR lesions (<2 cm) in the basal ganglia (70.6%), thalamus (64.7%), cerebral white matter (29.4%), and leptomeningeal enhancement[ 2 ] (46.2% in the brain and 62.5% in the spinal cord). [ 8 ] No significant differences in symptoms and imaging were observed in pediatric and adult patients[ 2 11 ]; however, few reports describe diffuse abnormalities in the periventricular white matter commonly in adults, while basal ganglia and thalamus enhancement is more common in pediatric populations.…”

“…Glial fibrillary acidic protein (GFAP) astrocytopathy is a rare autoimmune condition affecting the central nervous system (CNS) in both children and adults. Initially documented in 2016,[ 1 ] it typically follows a monophasic course in approximately 81% of cases,[ 2 ] featuring meningitis or meningoencephalomyelitis responsive to steroids or immunotherapy. [ 3 ] Initial symptoms include acute/subacute onset of nonspecific parainfectious symptoms followed by seizures, meningoencephalitis, myelitis, psychiatric symptoms, and autonomic dysfunction.…”

Canadian Consensus Guidelines for the Diagnosis and Treatment of Autoimmune Encephalitis in Adults

“…37 Glucose is typically normal in AIE although low glucose can be seen in autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy. 38,39 Testing for CJD should be sent only if there is high clinical suspicion. Repeat CSF examination can be considered if diagnostic uncertainty remains, as CSF findings may evolve with evolution of AIE.…”