Many spend more than a year waiting for gMG diagnosis: Study
Longer waits tied to more severe disease, lower quality of life
More than a quarter of patients with generalized myasthenia gravis (gMG) spend more than a year waiting for an accurate diagnosis, according to a survey-based study conducted across five European countries.
Study findings also suggested that patients who waited more than one year to be diagnosed might have more severe disease, greater rates of fatigue, more mental health comorbidities, and a lower quality of life, compared with those who were diagnosed within a year or less.
“These findings underscore the importance of a timely, accurate diagnosis to limit the burden on the patient and healthcare providers, and highlight a need for better disease management strategies,” the researchers wrote.
The study, “The impact of diagnosis delay on European patients with generalized myasthenia gravis,” was published in Annals of Clinical and Translational Neurology.
Receiving an accurate diagnosis for a rare disease such as gMG can be a time-consuming, stressful, and costly process for patients, frequently requiring multiple assessments and consultations with healthcare providers. Potential factors contributing to delays in gMG diagnosis include the fact that its hallmark symptoms of muscle weakness and fatigue may be attributed to other conditions, which can be further complicated by the presence of comorbidities.
Understanding impact of waiting for diagnosis
“A detailed understanding of the occurrence of diagnosis delay across diverse populations of people with MG, as well as the impact this may have on their disease burden and lived experience, is important in informing diagnosis and management strategies,” the researchers wrote.
The researchers conducted a survey-based study to determine how long MG patients from five European countries — France, Germany, Italy, Spain, and the U.K. — waited to receive an accurate diagnosis, as well as to assess the impact of waiting more than one year for a diagnosis.
The team analyzed survey data from 387 gMG patients and their physicians. The mean age of patients was 52.5, and more than half (54%) were women.
The mean diagnostic delay was approximately one year for all patients. However, for the 27.1% of those who waited more than a year for a gMG diagnosis, the delay extended to a mean of 975 days, or nearly three years.
Inaccurate initial diagnoses were more common for patients who faced long waits for a gMG diagnosis. Nearly 70% of patients who waited more than a year were initially misdiagnosed, most commonly with chronic fatigue syndrome, hysteria, or critical neuropathy/myopathy. In contrast, less than 20% of patients who waited a year or less to be correctly diagnosed were initially given a different diagnosis.
At the time of the survey, 40% of patients who had waited more than a year for a gMG diagnosis had MG Foundation of America class III status — a classification indicative of moderate weakness in muscles other than those of the eyes. Among those who faced diagnostic delays of a year or less, the figure was 24.1%, suggesting a more severe disease burden in patients who experienced longer diagnostic delays.
Symptoms and comorbidities also differed between the two groups. Physicians reported that patients facing diagnostic delays of more than one year were slightly more likely to experience fatigue. They were also substantially more likely to have coexisting mental health issues, such as anxiety and depression.
A slightly higher percentage of patients with a diagnostic delay of more than a year were reported by physicians to have a somewhat poor, poor, or very poor quality of life relative to those who were diagnosed sooner (26.7% vs. 22%).
Although there is substantial scientific research suggesting that gender bias can impact the diagnosis patients receive for many health conditions, the researchers said, their study did not find that gender was related to the time gMG patients waited for an accurate diagnosis.
The analysis “indicated that patients can experience substantial diagnosis delay,” the researchers wrote, noting that “barriers to diagnosis may potentially be overcome with educational initiatives.”
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