Study calls attention to under-recognized cases of dual amyloidosis

As the global population continues to age, dual amyloidosis is likely to become more common.

A new case study published in the journal Cureus draws attention to dual amyloidosis, with the simultaneous occurrence of Alzheimer’s disease and wild-type transthyretin amyloidosis (ATTRwt), the most common form of transthyretin amyloid cardiomyopathy (ATTR-CM). 

Alzheimer’s disease and ATTRwt share similar traits, most significantly the abnormal accumulation of amyloid proteins in the body. Researchers warn the occurrence of both age-related diseases is likely under-recognized and call for increased awareness, particularly given the availability of new, disease-modifying treatments.

“To date, there are no reported cases of dual amyloidosis other than autopsy cases, but considering the high prevalence of both diseases, it is plausible that a significant number of elderly individuals may suffer from both diseases simultaneously but are underdiagnosed,” the study’s authors wrote. “In recent years, disease-modifying drugs effective against both diseases have become available, making early diagnosis increasingly important.”

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The case study focuses on a 76-year old Japanese man diagnosed with Alzheimer’s disease and a history of cardiovascular and neurological problems, including hypertension, myocardial infarction, atrial fibrillation, carpal tunnel syndrome and lumbar spinal canal stenosis. At the age of 66, he began exhibiting memory loss problems and odd behaviors like repeated speech. He was diagnosed with Alzheimer’s disease at age 70.

Six years later, he began treatment with lecanemab, a monoclonal antibody medication used to treat mild cognitive impairment associated with dementia. That’s when doctors discovered the man also had ATTRwt amyloidosis, after running a series of advanced imaging tests. They suspected ATTRwt due to his history of recurrent heart problems and tendon and ligament disorders, as the abnormal proteins associated with the condition tend to build up in these areas and cause issues. The doctors started the man on tafamidis, a medication used to slow the progression of transthyretin amyloidosis. At a six-month follow up, he showed no signs of significant advancement of the disease.

The researchers say that the reason for the coexistence of the two types of amyloidosis in this particular case is unknown, but that there are likely many more similar cases of dual amyloidosis that remain undiagnosed. This is likely due to a lack of recognition of ATTRwt in clinical practice, as it causes subtle symptoms that gradually worsen over time and may be mistaken for other, more common heart conditions.

The study authors conclude that as the global population continues to age, dual amyloidosis is likely to become more common — and hopefully, more recognized. They call for more research to determine the true incidence of dual amyloidosis and urge healthcare providers to be vigilant and consider simultaneous diagnoses, especially when both cognitive and cardiovascular issues are present.

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