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Doing the math to pin down a rare heart disease

Science and medicine have progressed in leaps and bounds, often aided by advances in technology, yet thousands of rare diseases continue to impact the lives of millions of people. A disease is “rare” until it hits home and then it becomes unfortunately all too familiar for patients and their families.

One type of rare disease, known as transthyretin amyloid cardiomyopathy, or ATTR-CM, is a life-threatening and progressive disease caused by the build-up of transthyretin amyloid fibrils in the heart. It can often be overlooked as an underlying cause of heart failure. In fact,  worldwide, it is estimated that only about 1-2% of people living with ATTR-CM are diagnosed.There are two main types of ATTR-CM: hereditary (hATTR-CM) is due to a genetic mutation, and can affect men and women as early as their 50’s, while the more common type, or “wild-type” (wtATTR-CM), is associated with aging and predominantly affects men over age 60.

A breakthrough machine learning/artificial intelligence (AI) algorithm in development by Pfizer aims to guide patients, physicians and whole health systems into “the zone of suspicion” to more quickly pinpoint and triage patients at risk of this rare disease and hopefully lead to an earlier diagnosis for some.

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