The UK Fabry Outcome Survey tracks roughly 600 of the UK's estimated 800 diagnosed Fabry patients longitudinally.

Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency. An estimated 800 patients are diagnosed in the UK, managed through NHS Highly Specialised Services at lysosomal storage disorder centres in London, Manchester, Cambridge, Birmingham, Edinburgh, and Belfast. The UK Fabry Outcome Survey, a Sanofi-sponsored longitudinal registry, tracks roughly 600 UK patients, giving the UK one of the best-characterised Fabry populations globally, with data showing proteinuria in 55% of males and 35% of females at diagnosis, left ventricular hypertrophy in 60% of males, and neuropathic pain reported by 85% of patients at some point in their disease course.

The NHS Genomic Medicine Service offers free GLA gene testing for probands and first-degree relatives, with genetic counselling before and after testing. This drives a family-cascade yield the UK FOS estimates at 3-4 additional diagnosed relatives per index case, giving the UK the highest per-capita Fabry diagnosis rate in Europe. Both treatment pathways are NHS-commissioned: enzyme replacement therapy for all patients, which has never been formally appraised by NICE and is commissioned via clinical policy, and oral migalastat, NICE HST4 with a patient access scheme, for the roughly 35-50% of patients whose GLA mutation is amenable, confirmed via an assay available at three NHS genetics labs. On treatment, UK FOS data shows renal function stabilisation in around 70% of patients.

Diagnosis is well-characterised; the amenable-mutation split still decides which therapy a patient gets.

Five questions this report answers:

Q1 - How does the NHS specialist-centre network shape diagnosis and outcomes tracking for UK Fabry disease?

Q2 - What share of the UK Fabry population is amenable-mutation eligible for oral migalastat?

Q3 - How does free NHS cascade testing drive Fabry diagnosis rates in the UK?

Q4 - What proportion of UK Fabry patients show neuropathic pain at some point in their disease?

Q5 - How many NHS centres manage lysosomal storage disorder patients across the UK?

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