What we do

Delayed diagnosis means worse outcomes for patients. Amyloidosis is often misdiagnosed due to its rarity and the non-specific nature of early symptoms. It can take patients years to get diagnosed and unfortunately, many are still diagnosed by post-mortem examination. Late diagnosis means people develop more organ damage and disability and have a poorer quality of life, needing more extensive and complex care. Furthermore, those who are diagnosed later in the disease course may not be eligible for newer innovative treatments due to disease severity and frailty.

Estimates suggest thousands of people in the UK live with amyloidosis, although exact numbers are unclear due to underdiagnosis. The rate of diagnosis is increasing due to improved diagnostic techniques and increased awareness. In addition, treatment developments mean patients are living longer. The result is an increasing number of individuals needing care and support.

There are significant geographical differences in terms of access to essential and appropriate care. For example, the National Amyloidosis Centre (NAC) in London is the UK’s centrally-commissioned national referral centre for amyloidosis. The NAC provides a diagnostic and management advisory service, and is also responsible for prescribing certain medicines. Currently most amyloidosis patients are seen here, however, for the many who live outside the Greater London area this can mean long journeys, which is especially difficult for those who are in ill health.

Certain patient communities remain underserved. For example, one form of hereditary ATTR amyloidosis, caused by the V122I (or V142I) variant or mutation almost exclusively affects people of African and Caribbean descent. The V122I subtype is the most common form of hereditary amyloidosis in the UK, but this patient group are still diagnosed later and have worse outcomes than those with other forms.