Neuromyelitis optica spectrum disorder

Sex, race, and ethnicity

The study population was predominantly female (N = 171; 88.6%) and comprised diverse racial/ethnic backgrounds: 71.5% Caucasian/white; 16.1% African American/black; 6.7% Asian (AS); 6.7% Hispanic/Latina/o or Spanish American; 0.5% Native American, 1.0% Pacific Islander; and 2.6% Other. The distribution exceeds 100% because individuals could select multiple categories. The sample was predominantly English speaking; 2 participants requested the Spanish survey. Race and ethnicity distribution was generally representative of the U.S. population, but reflected a smaller proportion of HL participants than expected.

Education

Twenty-eight percent reported completing a primary or high school education or general educational development (figure 1A). Twenty-one percent hold an associates or technical degree, 30.6% hold a bachelor's degree, and 18.1% have a postgraduate education or professional degree. Typical of online survey research, the sample skewed slightly to a greater proportion of subjects having a higher level of education than the general US population.

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Figure 1 (A) Demographic patterns among the present study cohort

(B) Relationship between physical and emotional health functioning in NMO/SD. Criteria were based on SF-36 role-physical and role-emotional health measures. The relative size of the circle represents the number of respondents with a given score. Most respondents fell within one of 3 categories, as labeled. Note that the upper left category represents a particularly resilient group of patients with very poor physical health but very robust emotional health.

Employment status

Approximately 35% of the study cohort (N = 67) reported current employment (figure 1A), ranging from full-time (≥40 h/wk; 21.2%) to part-time work. Nine unemployed respondents (4.6%) reported that they are actively seeking employment. Of those unemployed, 18 are full-time homemakers or caregivers, 22 are retired, and 1 is a student. Most unemployed respondents (63.7%; N = 79) reported being disabled.

Income

Household annual income varied widely among the study subjects (figure 1A). The study population comprised a smaller proportion of participants who earned less than $10,000 per year compared with the broader US demographic.

Residential status and children

Study participants resided in one of 43 US states and the District of Columbia, whereas 11 participants resided in Canada. The modal state of residence was California (N = 27; 14.8%). The majority of participants (70.5%) lived with their spouse/partner; 38.3% with their children; 10.4% were living alone at the time of study. None reported living with domestic assistance or in an institutional domicile/care facility. Most participants (73.1%) had children.

Survey assistance and future research

Nineteen participants (<10%) received assistance in survey completion. One participant participated by telephone. Over 92% of study subjects (N = 179) would consider participating in a future study, whereas 8 (4.1%) declined considering a future survey and 6 (3.1%) declined to answer this question.

Physical and emotional health

Role-physical scores were relatively low but exhibited wide variability (median = 27.1 ± 36.1). Role-emotional functioning was near-average, with broad variance (median = 54.0 ± 44.9). Data exhibited bimodal distribution, with participants chiefly reporting either low or high functioning (figure 1B). Although physical and emotional health were positively correlated (r = 0.513; p < 0.05), the data also highlighted a complex health continuum (figure 1B).

Comparative QoL

To contextualize NMOSD QoL, SF-26 data were compared with data examining other autoimmune/inflammatory disorders (table 1). Where results are summarized physically, NMOSD impact on QoL was rated similarly to systemic lupus erythematosus. Emotional impact of NMOSD was rated as equivalent to MS, systemic lupus erythematosus, and antiphospholipid syndrome.

Impact of disease on QoL

Specific impacts of NMOSD on QoL are summarized in table 1. On average, NMOSD imposed a significant negative effect (mean = 4.58 ± 1.41; scale 1–6 [1 = least impact, 6 = greatest impact]); >70% reported QoL to be greatly affected. Determinants most associated with negative QoL were pain, impact on career, and ability to work. Other factors were pain impairing day-to-day tasks, impact on social activities, bowel/bladder dysfunction, and satisfaction with sexual function. Of interest, diagnosis of NMOSD failed to strongly influence the decision to have children.

Initial presenting Symptom(s)

The most common initial presenting symptoms (table 2) were numbness and/or tingling (68.4%), difficulty walking (54.4%), and visual disturbances (52.8%). Other presenting symptoms are as in figure-e1 (links.lww.com/NXI/A120).

Accuracy of initial diagnosis

Nearly two-thirds of the cohort (N = 125; 64.8%) reported an initial diagnosis other than NMOSD. The most frequent were MS (N = 80; 41.4%) or nonspecific optic neuritis (N = 44; 22.7%) (table 2).

Demographics and serologic status

Participants ranged in age from 19 to 76 years (mean = 49.2 ± 12.8 years), whereas 13–73 years (mean = 44.7 ± 12.5 years) at diagnosis and 3 months to 22 years (mean = 5.0 ± 3.8 years) from diagnosis to study enrollment. Eighty-two percent carry the diagnosis of NMO (N = 158), whereas 18.1% (N = 35) were diagnosed with NMOSD. Among the entire study cohort, 118 (61.1%) reported being anti–aquaporin 4 antibody (NMO-IgG) seropositive, 41 (21.2%) NMO-IgG seronegative, and 34 (17.6%) did not know.

Diagnostic or treatment delays

Time from initial symptoms to correct diagnosis ranged from 0 (i.e., immediate NMO diagnosis) to 40 years (mean = 3.3 ± 6.3 years). The time from correct diagnosis to treatment initiation ranged from 0 to 11 years (mean = 6 months ± 1.7 years). The median timespan between first symptom and correct diagnosis was 6 months, and the median interval to specific treatment initiation was 3 weeks.

Perceived efficacy of current treatment

The mean rating of perceived effectiveness of current treatment across all participants was 8.2 ± 2.3 on the following scale (1–10): 10 = treatment works very well; 1 = treatment does not work well or at all. The most common medications were rituximab (60.6%), prednisone/corticosteroids (20.2%), and mycophenolate mofetil (17.1%). Of treatments being prescribed for at least 10% of study subjects, those receiving rituximab or mycophenolate mofetil reported highest perceived efficacy, whereas azathioprine was lowest (table 3). Four participants reported currently receiving no treatment, and 35 (18.1%) reported “other” treatments.

Concerns about treatment options

More than 50% of participants (51.8%) reported having concerns regarding their NMOSD treatment, mostly focused on future effectiveness (table 3). Eighty-eight participants (45.6%) reported NMO medication changes over their disease course. The majority of these patients (N = 48, 54.5%) reported changes because of poor efficacy, whereas 32 (36.4%) reported intolerable side effects. Three patients (3.4%) changed medication during pregnancy, 4 (4.5%) participated in a clinical trial, and 10 (11.4%) changed therapy because of cost (table 3).

Impact of relapses

Table 4 summarizes relapse frequency among study participants. Fifty-two patients (26.9%) reported no relapses. Among the remaining 141 patients, 115 (81.5%) reported relapses requiring hospitalization, whereas 26 (18.5%) had relapses managed as outpatients. Forty-five participants (23.3%) reported 6 or more relapses, with 2 patients having ≥6 in the previous year. One-hundred twenty-one patients had not visited an emergency department because of relapse in the past year, whereas 6 others visited an emergency department ≥6 times. Relapses were reported as lasting <4 weeks by 95 participants (49.2%) (table 4); 8 patients (4.1%) reported relapses lasting >6 months. Most participants who experienced relapses in the past year were treated with either IV or (44%) or oral steroids (44%).

Health care experience

The distribution of health care professionals initially sought by patients for care is summarized in table 5. Primary care physicians (N = 48; 24.9%) and general neurologists (N = 47; 24.5) were most commonly consulted initially, followed by emergency department physicians (N = 41; 21.2%). The most common initial referral was to a general neurologist (N = 77; 39.8%). Fifty-two patients (26.9%) were referred to NMOSD specialist neurologists, 40 (20.7%) to an ophthalmologist, and 26 (13.4%) to a gastroenterologist. General neurologists were the most common specialists prescribing medications (∼90.6%).

Nearly one-half of the study cohort (N = 82; 42.4%) were examined by their doctor every 6 months, most commonly coincident with rituximab infusion. Thirty-three percent (N = 64) of patients saw their doctor at 3-month intervals; 16 (8.3%) once per year, 2.6% (N = 5) every month, and 6 (3.1%) only at the time of relapse. The remainder report seeing their doctor “as needed” (N = 4) or not at all (N = 1).

Costs attributable to disease

Study participants rated monthly out-of-pocket expenses due to NMOSD as 5.71 ± 3.12 on a 10-point scale ranging from no burden (1) to significant burden (10). As summarized in table 5, prescription medicines accounted for the greatest portion of NMOSD medical costs for most patients (N = 88; 45.6%); many specified rituximab infusions as the single largest cost. The sole factor predictive of financial burden was receiving plasma exchange therapy during relapse. Twenty-five (13%) reported travel costs to/from health care providers as accounting for the greatest cost, whereas 18 (9%) stated hospitalization accounted for greatest cost. Eleven percent (N = 21) reported that an in-home professional caregiver provides service. Other significant costs reported were herbal supplements, psychologist visits, or medical costs not covered by Medicare.

Total costs

Beyond subjective financial burden of disease, the total annual expenses reported by the cohort as a whole was $1,109,357 or an average of $5,748 per respondent (table 5). The most frequently reported cost was prescription medication, with 140 participants (73.5%) reporting an average out-of-pocket cost of $1,876 annually. Unprompted (not an original category of out-of-pocket costs), 3 participants reported lost income at an average of $65,000 annually. Although not a categorical option, 23 respondents reported paying for specialists (including psychologists) out-of-pocket, at an average of $1,554 annually. A large number of participants (N = 124; 64.2%) reported travel costs to medical appointments, at an average of $468 per respondent. The largest total cost out-of-pocket was for hospitalization, accounting for $304,410 annually in the sample, or an average of $7,248 per respondent (N = 42; 21.8%). Caregiver or support was another high cost, accounting for $70,580 annually in the sample, or an average of $3,361 per respondent (N = 21; 10.9%).

Financial support for care

The majority of study participants (N = 142; 73.6%) reported that health insurance sufficiently covered prescribed NMOSD medicines. Among those with insufficient health insurance, expensive copayment and insurer denials were common reasons. Twenty-four study participants (12.6%) reported receiving financial support for their NMOSD treatment, largely in the form of disability insurance, clinical trial participation, or support from friends and family.