ASH 2024 | A study investigating the clinical prodrome and delays in diagnosis for patients with AL amyloidosis

Thank you for giving me the opportunity to talk about this abstract, which I put together along with the HealthTree Foundation and my mentor, Dr Morie Gertz. This was a study looking at the clinical prodrome, meaning the symptoms preceding the diagnosis of amyloidosis and looking at the patient journey from when the symptoms start until the time of diagnosis. Light chain amyloidosis is actually a relatively rare plasma cell disorder. It is associated with involvement of several organs. And the timely diagnosis is very important in this disease because delays in diagnosis are associated with worse organ involvement and shorter survival. So reducing the time from symptom onset to diagnosis is a very important step in improving the patient outcomes. So what we really wanted to do in this study is understand what are the causes of the delay in diagnosis. So we did a survey-based study. We sent the survey through the HealthTree Foundation through their platform, the HealthTree Cure Hub registry platform. The survey was composed of about 32 questions, including 23 questions which were multiple choice and seven which were date entry and two free response questions. The data on diagnosis, demographic data, we extracted that from the electronic health record in addition to the self-reported data, which was linked to the registry. So when we asked patients about the most common symptoms that initially prompted evaluation, the most common symptoms were actually fatigue and weakness. And as you can imagine, those are very nonspecific symptoms and very common symptoms. Other presentations included shortness of breath, swelling, and foamy urine. At the time of diagnosis, most of the patients had between one and three symptoms and some patients less than 10% had more than 12 symptoms. Now, it’s interesting that a third of patients actually first presented to their general practitioner. Another third presented to a specialist, an organ specialist. So a cardiologist for chest pain, for example, a pulmonologist for shortness of breath. But when we looked at the type of physician that eventually made the diagnosis, it was most commonly the hematologist and oncologist. And patients actually had to see a median of about three providers before the diagnosis was established. When we asked patients whether they thought the diagnosis was delayed, the vast majority of them, about 60%, felt that their diagnosis was indeed delayed. Most commonly, patients reported a delay of about one to three months, and that was in about 30% of patients. But we found that about 35% of patients reported a delay in more than one year in diagnosis. And a lot of patients, about a third of patients, felt that the diagnosis led to a compromise in the efficacy of therapy. So I think those results are very important to highlight that initial symptoms of light-chain amyloidosis are very nonspecific. Which makes it really important for providers to have a high index of suspicion when patients present with such symptoms. It’s very important to educate the general practitioner and the organ specialist because, as I mentioned, the majority of patients first presented to those providers, but only in a small percentage of patients was the diagnosis actually established by those providers. So I think understanding what are some of the causes of the delay in diagnosis is only the first step in trying to improve outcomes and trying to decrease that time from symptom onset to diagnosis. I think we have a lot of work to do in terms of educating patients and providers about the disease. And what we hope is that in the future, by decreasing that interval, we’d be able to improve the outcomes.

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