Explore the relationship between HIV infection associated neuromyelitis optica spectrum disorder (HIV-NMOSD) and varied presence of aquaporin-4 (AQP4) antibodies as detailed in patient cases.

HIV is rarely associated with pathogenesis of autoimmune syndromes, and NMOSD due to HIV is rarely described in the literature. HIV-NMOSD with associated AQP4 antibodies is a rare and recently recognized presentation and is thus difficult to treat. Some patients presenting with HIV-NMOSD lack AQP4 antibodies, raising suspicion for AQP4’s role in the mechanism of disease.

We searched the UTMB registry through TriNetX for all cases of HIV-NMOSD, identifying relevant cases, and then doing a detailed analysis. We performed a literature search using the terms NMO, NMOSD, neuromyelitis optica, HIV infection, AQP4, aquaporin-4 in PubMed and Google Scholar and manually selected relevant cases.

We reported 30 patients from our registry and identified 21 patient cases of HIV-NMOSD (51 patients total HIV+ or HIV- ) with varying presence of AQP4 antibody described in literature. From TriNetX - average age of 42, age range from 17-80, cohort is 50% female, 50% male and 10 patients were AQP4 antibody positive. 

In another cohort of 90 UTMB patients diagnosed with NMOSD only, 20 expressed the AQP4 antibody while of 62,740 UTMB patients diagnosed with HIV only, 50 expressed the AQP4 antibody. 

Of the 21 patients from literature with HIV-NMOSD, 9 had AQP4 antibodies, 9 were negative, 1 was not tested, and 1 was missed for further testing. Of the 30 patients that were HIV negative, 20 were AQP4 antibody positive.

HIV-NMOSD is a difficult condition to diagnose especially considering the variable presence of AQP4 antibodies in each patient. Special consideration should be taken to determine HIV status, possible presentation of optic neuritis or NMOSD, and presence of AQP4 antibodies to better aid the diagnosis and treatment.