For almost 150 years after its discovery, amyloidosis was considered incurable. Historically, the complexity of the disease delayed research. Why invest time and money in research on such a complex disease?
Indeed, amyloidosis is complicated to diagnose for a number of reasons, including the fact that there are 36 known subtypes of amyloidosis. Eleven of them directly affect the heart, while others are found in other parts of the body.
Fortunately for our patients, over the last few decades the management of amyloidosis has greatly evolved in their favor on three fronts: diagnosis, treatment and research.
This article is based on the study : Three parallel advances usher in new age of cardiac amyloidosis care.
Diagnosis
Until now, the diagnosis of ATTR-CA amyloidosis required endomyocardial biopsy. Now, advances in diagnostic technology have made it possible to confirm the presence of ATTR if AL amyloidosis is excluded through a variety of means including imaging, blood and urine tests.
The first step in diagnosis is the search for abnormal light chains of proteins. To reveal these abnormalities, a blood test may already indicate a diagnostic emergency. New technologies such as electrocardiogram or echocardiogram can provide truly solid evidence of cardiac amyloidosis when combined. Only when AL amyloidosis cannot be excluded should an endomyocardial biopsy be used to detect the disease. When AL amyloidosis is ruled out, however, other tests such as scintigraphy, blood and urine samples or cardiac MRI can be performed.
Treatment
For the best treatment results in amyloidosis, early treatment and coordinated care are essential. Some hospitals have extensive facilities and specialized doctors to try to overcome this disease.
Effective treatment combinations that exist today include a combination of chemotherapy and monoclonal antibodies such as CyBorD and Daratumumab. The emergence of certain drugs has also helped stabilize the disease for some patients. For example, the FDA for hereditary TRTA approved inotersen and patisiran in 2018. In 2019, it was tafamidis. This type of treatment does not, of course, cure the disease, but it does slow it down and reduce the risk of hospitalization or death.
Research
After years of almost no research on amyloidosis, we can now say that it is booming.
More and more clinical trials are being carried out in an attempt to find out more about the disease in order to beat it. The most notable ones have been:
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- CAEL-101 monoclonal antibody study
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- Cardio TTRANSFORM
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- Safety, Efficacy, and Pharmacokinetics of Tafamidis
This new era for amyloidosis is bringing hope to patients. In the future, we hope that the diagnosis wandering will be behind us and that we will be able to read about more and more effective treatments for amyloidosis.