An estimated 100,000 to 150,000 Americans have ATTR cardiomyopathy, yet most remain undiagnosed despite a scan that can confirm it without biopsy.

Transthyretin, or TTR, amyloidosis occurs when TTR tetramers pull apart and misfold into amyloid fibrils that deposit in tissue, producing two distinct diseases. ATTR cardiomyopathy, driven by deposits in the heart muscle, is the larger commercial population; ATTR polyneuropathy, driven by deposits in peripheral nerves, is the historically recognised, nerve-led form. Cardiomyopathy itself splits by genotype: wild-type disease accounts for roughly 80% of cases and predominates in men over 70, while hereditary disease, about 20%, stems from a pathogenic TTR variant, most often V122I in the US, which disproportionately affects people of West African ancestry. Estimates place the US cardiomyopathy population at 100,000 to 150,000 patients, most still undiagnosed.

The real story here is diagnostic, not therapeutic. Technetium-pyrophosphate scintigraphy now allows a non-biopsy diagnosis of ATTR cardiomyopathy, replacing endomyocardial biopsy as the gate into treatment. Echocardiographic clues such as increased wall thickness and apical-sparing strain trigger the scan, and the disease is increasingly recognised as an underdiagnosed cause of heart failure with preserved ejection fraction and of severe aortic stenosis. Tafamidis cut all-cause mortality by 29.5% at 30 months in its pivotal trial, and two oral stabilizers plus three RNA silencers are now approved. With effective treatment already available, the rate-limiting step for the market is finding patients, not treating them.

Finding patients, not treating them, is now the market's real constraint.

Five questions this report answers:

Q1 - How large is the undiagnosed US ATTR-CM pool, and where does scintigraphy screening expand it?

Q2 - How do the ATTR-CM vs ATTR-PN split and wild-type vs hereditary divide segment US patients?

Q3 - Which patients fall into the oral-stabilizer vs RNA-silencer treatment pathway today?

Q4 - How many of the estimated 100,000-150,000 US ATTR-CM patients are actually diagnosed?

Q5 - How is ATTR-CM diagnosed without a biopsy today?

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Mike || Global Pharma Commercial Marketing Head

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