Publications & Posters

Neuromyelitis Optica In Patients With Increased Interferon Alpha Concentrations


Williams J, McGlasson S, Irani S, Duffy D, Crow Y and Hunt D.

The Lancet Neurology. 2020;19:31-33.



Recombinant interferon alpha is used to treat several immunological, oncological, and infectious diseases,and various serious side-effects have been associated with its therapeutic use. We want to bring attention to the development of neuromyelitis optica spectrum disorder (NMOSD), a rare opticospinal neuroinflammatory disease associated with autoantibodies against the glial water channel aquaporin-4, following the clinical administration of recombinant interferon alpha therapies, and in other instances of increased interferon α (IFNα) concentrations.

A 65-year-old woman (patient 1), our index case, was referred to our NMOSD clinic (Anne Rowling Clinic, Edinburgh, UK) after developing thoracic transverse myelitis during treatment with recombinant interferon alpha for systemic mastocytosis. She had serum antibodies against aquaporin-4 and experienced relapsing opticospinal inflammation, requiring treatment with rituximab.

FigureSpinal MRI scans in patients with NMOSD associated with increased IFNα

Patient 1 (A) and patient 2 (B) developed NMOSD and antibodies to aquaporin-4 after interferon alpha treatment for haematological or infectious disease. T2-weighted MRI scans of the spinal cord are shown, with T2-hyperintense lesions in the thoracic spinal cord extending over multiple segments. NMOSD was seen in a child (C) with genetic interferonopathy and an activating IFIH1 mutation (patient 3; T2-weighted MRI scan of cervical cord) and in a patient (D) with systemic lupus erythematosus (patient 4; gadolinium-enhanced MRI of cervical cord). Single-molecule ELISA confirmed the increase of endogenous serum IFNα levels in patients 3 and 4. IFNα=interferon α (endogenous). NMOSD=neuromyelitis optica spectrum disorder.