From the Guidelines
Obtaining a thorough family history in patients with suspected optic neuritis is crucial to identify potential underlying causes and guide appropriate management, as it can reveal genetic predispositions to demyelinating disorders like multiple sclerosis (MS) 1. When evaluating these patients, specifically ask about relatives with MS, neuromyelitis optica, autoimmune disorders (such as lupus or Sjögren's syndrome), and other neurological conditions. This information significantly impacts diagnostic workup decisions, including whether to order an MRI, lumbar puncture, or specific antibody tests like aquaporin-4 or MOG antibodies. For example, a positive family history of MS increases the pre-test probability that the patient's optic neuritis represents the first manifestation of MS, potentially warranting earlier and more aggressive treatment with corticosteroids (typically IV methylprednisolone 1g daily for 3-5 days) and closer neurological follow-up, as suggested by the comprehensive adult medical eye evaluation preferred practice pattern 1. Some key points to consider when taking a family history include:
- Demographic data (e.g., name, date of birth, gender, and ethnicity or race)
- Family history: pertinent familial ocular (e.g., glaucoma, AMD) and systemic disease
- Social history (e.g., occupation; tobacco, alcohol, illicit drug use; family and living situation, as appropriate) Understanding these genetic connections helps clinicians develop more accurate risk assessments and personalized treatment plans for patients with optic neuritis, ultimately improving morbidity, mortality, and quality of life outcomes 1.
From the Research
Importance of Familiar History in Optic Neuritis
Asking for familiar history in a patient with suspected optic neuritis is crucial for several reasons:
- It helps to identify potential underlying conditions, such as multiple sclerosis, that may be associated with optic neuritis 2, 3, 4.
- Familiar history can provide clues about the patient's risk of developing multiple sclerosis, which can inform treatment decisions 3, 4.
- Atypical forms of optic neuritis, such as those associated with antibodies to myelin oligodendrocyte glycoprotein, AQP4, and CRMP5, may have a poorer prognosis and require different treatment approaches 2, 5.
- A patient's familiar history can also help to identify other autoimmune disorders that may be associated with optic neuritis, such as neuromyelitis optica spectrum disorder 2, 5.
Diagnostic Considerations
When taking a familiar history, the following points should be considered:
- A family history of multiple sclerosis or other autoimmune disorders may increase the patient's risk of developing these conditions 3, 4.
- A history of previous optic neuritis episodes or other neurological symptoms may suggest an underlying condition such as multiple sclerosis or neuromyelitis optica spectrum disorder 2, 3.
- The presence of other autoimmune disorders, such as connective tissue disorders or infectious diseases, may also be relevant to the diagnosis and treatment of optic neuritis 3, 5.
Treatment Implications
The familiar history can also inform treatment decisions, including:
- The use of high-dose corticosteroids or plasmapheresis in patients with severe optic neuritis 6, 5.
- The consideration of immune prophylaxis with beta-interferon or glatiramer acetate in patients at high risk of developing multiple sclerosis 4.
- The potential need for long-term immunosuppressive therapy in patients with atypical forms of optic neuritis, such as those associated with antibodies to myelin oligodendrocyte glycoprotein or AQP4 2, 5.