A new study published in Open Heart provided up-to-date data on the epidemiology of amyloid transthyretin (ATTR) amyloidosis in the US.
“Our findings corroborate the need for appropriate differential diagnostic coding and standardized criteria,” the authors of the study said.
To estimate the epidemiology of ATTR amyloidosis in the US, the research team led by Ana Martins Silva, MD, from Alexion, AstraZeneca Rare Disease in Barcelona, Spain, retrospectively analyzed US electronic health records and claims data between 2016 and 2023.
“Given the lack of established coding for ATTR amyloidosis, we used different combinations of diagnostic codes to obtain narrow and broad estimates of incident and prevalent cases in the USA in 2022,” they explained.
Using narrow definitions, they estimated the 2022 incidence of overall ATTR amyloidosis as being 16.6 cases per million people. Similarly, the estimated incidence of transthyretin-mediated amyloid cardiomyopathy (ATTR-CM) was 12.7 cases per million people, while that of transthyretin amyloid polyneuropathy (ATTR-PN) was 3.5 cases per million people.
Read more about the epidemiology of ATTR-CM
The estimated prevalence of overall ATTR amyloidosis was 59.8 cases per million people, that of ATTR-CM was 41.1 cases per million people, and that of ATTR-PN was 15.1 cases per million people.
The narrow definitions provided consistently lower estimates compared with the broad definitions.
The researchers also reported that the incidence and prevalence of overall ATTR amyloidosis increased over time, driven by the number of ATTR-CM cases.
There were no major changes in the incidence and prevalence of ATTR-PN or mixed phenotypes through time.
The authors concluded that since the incidence and prevalence of ATTR amyloidosis are on the rise and the diagnostic approaches reported in the literature are so varied, a validated definition of ATTR amyloidosis is urgently needed. This, they said, can depict a better picture of disease burden and aid in better patient management.
Clinicians: Are your patients looking for news and insights on ATTR-CM? Refer them to ATTR-CM Companion.