NHS Tc-PYP scintigraphy lifted UK ATTR-CM diagnoses to 2,000-5,000 a year, up from fewer than 500 before the pathway existed in 2021.

Transthyretin (ATTR) amyloidosis develops when the TTR protein destabilizes and deposits as amyloid fibrils in the heart (ATTR-CM) and peripheral nerves (ATTR-PN), occurring in wild-type or hereditary (ATTRv) form. NHS England built a Tc-PYP scintigraphy diagnostic pathway for ATTR-CM in 2021, and roughly 30 NHS scintigraphy centres are now active, with referral running from HFpEF patients showing increased echo wall thickness through cardiac MRI where available to Tc-PYP confirmation at a specialist centre. Estimated UK ATTR-CM incidence has since risen to 2,000-5,000 new diagnoses a year, up from fewer than 500 annually before Tc-PYP existed.

ATTRv, the hereditary form, affects an estimated 1,000-2,000 UK patients. The NHS Genomic Medicine Service offers free TTR gene panel testing for probands with clinical features, and the UK National ATTRv Registry, led by UCL and Queen Elizabeth Hospital Birmingham, tracks approximately 800 patients. Val30Met is the most common variant, concentrated in Portuguese and Brazilian-origin families in the UK, alongside Irish Thr60Ala families. NICE's tafamidis approval (TA696), updated by TA984 in June 2024, remains the step-change commissioning event, while vutrisiran (TA868, published 15 February 2023) was recommended for ATTR-PN with a simple Patient Access Scheme discount.

Diagnosis rose fivefold, but commissioning has to keep pace with identification.

Five questions this report answers:

Q1 - How has the Tc-PYP pathway changed the diagnosed UK ATTR-CM population since 2021?

Q2 - What is the size of the UK ATTRv population, and how does NHS GMS testing identify at-risk families?

Q3 - What does vutrisiran's NICE recommendation (TA868) mean for the ATTR-PN population and specialist centre network?

Q4 - Which family origins carry the Val30Met and Thr60Ala ATTRv variants in the UK?

Q5 - How many NHS scintigraphy centres now confirm ATTR-CM diagnoses across the UK?

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