Fewer than 1,000 of an estimated 15,000-25,000 GCC ATTR-CM patients are diagnosed, under 5%, largely from missing Tc-PYP scans.

Transthyretin amyloidosis causes progressive deposition of misfolded TTR protein as amyloid fibrils, predominantly affecting the heart in ATTR-CM and, in hereditary forms, the peripheral nerves. The GCC cardiac amyloid landscape mirrors the pre-2019, pre-Tc-PYP Western world: most heart failure with preserved ejection fraction and hypertrophic cardiomyopathy is attributed to the region's high background rates of hypertension and diabetes, without ATTR-specific workup. Tc-PYP scintigraphy is available at fewer than 8 GCC centres and TTR genetic testing at only 3 to 4 reference laboratories, leaving an estimated ATTR-CM burden of 15,000 to 25,000 patients against fewer than 1,000 diagnosed.

The GCC also carries its own hereditary ATTR genetic signature. Alongside the globally recognised Val30Met founder mutation, Arabian Peninsula-specific variants have been documented: Ala97Ser in Saudi kindreds, Glu89Gln in UAE and Omani kindreds, and Thr60Ala in some Bahraini families, producing predominantly cardiac or mixed phenotypes across an estimated 500 to 1,000 GCC ATTRv patients. KFSH&RC maintains the only GCC-wide ATTRv genetic registry. Median diagnostic delay runs four to six years from first heart-failure presentation, moving through a five- to seven-step referral chain, with each step typically adding six to eighteen months before genetic testing is even ordered.

Hypertension and diabetes are absorbing a cardiac amyloid population that goes undiagnosed.

Five questions this report answers:

Q1 - What is the true size of the undiagnosed GCC ATTR-CM population within the HFpEF pool?

Q2 - Which Arabian Peninsula-specific TTR genetic variants are documented in GCC kindreds?

Q3 - Where in the referral pathway does the 4-6 year ATTR-CM diagnostic delay concentrate?

Q4 - What diagnostic and access barriers define the addressable GCC ATTR amyloidosis market?

Q5 - How many GCC centres run Tc-PYP scintigraphy, and what does that capacity gap mean for access?

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