Risk factors for delayed MG diagnosis ID’d in new study
Key factors are younger age, more symptom-free periods among patients
Being younger, having more symptom-free periods, and a delayed positive antibody test were identified as risk factors for a delayed diagnosis of myasthenia gravis (MG) in a study conducted in Denmark.
While the study’s findings noted a trend toward shorter diagnosis times in more recent years, the researchers noted that many patients continue to experience significant delays before getting a diagnosis.
“We found delay in many parts of the diagnostic processes,” the researchers wrote, highlighting that among such lags are “the time it takes for patients to be referred to a specialist, and the time it takes for the specialist to make the diagnosis.”
According to the team, “this suggests that diagnosing MG may be multifactorial and challenging in several parts of the diagnostic process.” The researchers added that “there is still a need to promote awareness about MG.”
The study, “Factors affecting the diagnostic delay of myasthenia gravis,” was published in the Journal of Neurology.
Delayed antibody tests also may lead to diagnosis lag
A rare autoimmune disease, MG is caused by the production of self-reactive antibodies that mistakenly attack proteins required for nerve-muscle communication. This results in the hallmark disease symptoms of muscle weakness and fatigue.
Diagnosing MG is made especially challenging because its symptoms are nonspecific and can resemble those of other conditions. Blood tests looking for the self-reactive antibodies that drive the disease are the main method used to definitively confirm a diagnosis of MG. If results are inconclusive, additional tests may be needed to confirm the diagnosis and rule out other conditions.
The entire diagnostic process may take months or even years. However, delays in diagnosis can hinder early treatment, which is crucial for achieving better outcomes, the researchers noted.
In this study, a team from the Copenhagen Neuromuscular Center analyzed the medical records of 315 MG patients treated between 1980 and 2022. Their goal was to identify any risk factors associated with delays in MG diagnosis.
Overall, patients waited a mean of 331 days, or nearly one year, to be diagnosed. However, for some individuals, a diagnosis took as long as 12 years.
Diagnosing MG can be challenging due to its rarity, fluctuating symptoms, and diverse manifestations. … Delays in the diagnostic process have been identified in various areas.
Patients who experienced the most extended delays — waiting more than a median of 141 days, or more than four months, to be diagnosed — were typically younger at the time of MG onset compared with those who were diagnosed in less time (50.4 vs. 55.4 years). Those who waited longer for a diagnosis also tended to have more periods without symptoms (29% vs. 10%), which may have led doctors to adopt “a wait and see approach and result in less … attention initially,” the researchers noted.
“Additionally, in younger individuals, less severe and more common conditions may be considered before a diagnosis of MG,” the researchers wrote.
The study also found delays in referrals to specialists and in conducting key diagnostic tests. Blood tests looking for MG-related antibodies also sometimes took months or even years to yield a positive result.
Of concern to the researchers was their suspicion that some clinicians might not even consider an MG diagnosis.
“The theory that doctors completely disregard the possibility of MG in some cases, is reinforced by the fact that there is a significant delay between onset and performed diagnostic … tests,” the team wrote.
On average, patients visited two specialists before receiving a diagnosis, with general neurologists and eye specialists being the most common. The study’s findings also indicated that patients who waited less time for a diagnosis may have been referred to stroke specialists earlier on.
“Diagnosing MG can be challenging due to its rarity, fluctuating symptoms, and diverse manifestations,” the researchers wrote, noting that “prompt referral to a stroke specialist may lead to an earlier diagnosis.”
In some cases, patients underwent unnecessary surgeries for certain symptoms, including eyelid droopiness, before the possibility of MG was even considered.
Overall, the researchers called for greater awareness of MG among healthcare professionals to reduce diagnostic delays. The team noted that, while the average time to diagnosis has diminished over the years, some patients still face unusually long delays.
The researchers stressed the importance of considering MG earlier, noting their findings that “delays in the diagnostic process have been identified in various areas.”
About the Author
