Amyloidosis UK

We are a small, growing charity run by and for amyloidosis patients. We aim to bring the amyloidosis community together and to provide information and support to anyone living in the UK who is affected by amyloidosis. We actively engage all stakeholders to advocate for improved awareness, early diagnosis and access to the best treatments and holistic care.

Amyloidosis is a rare but serious condition that is often overlooked, leading to late diagnoses and unnecessary suffering. Increased awareness, funding for research, and enhanced support for patients are urgently needed to improve outcomes and save lives.

What is amyloidosis?

Amyloidosis is a rare disease where abnormal proteins build up in organs and tissues as amyloid deposits. Without treatment these deposits affect the organs’ ability to function normally and eventually cause organ failure, and may lead to death. Amyloidosis is a debilitating and progressive condition that impacts every aspect of a patient’s life. 

There are many different types of amyloidosis, caused by different abnormal proteins. However there are many common features across the different types of amyloidosis in terms of how they affect a person. Furthermore, the goal of treatment in all forms of amyloidosis is to slow down, stop or reverse the build-up of amyloid deposits in the affected organs. In some types there are medicines that can do this, but in most forms of amyloidosis there are no approved medicinal treatments and organ transplant is the only therapeutic option.

What are the different types of amyloidosis?

AL amyloidosis is the most common type in the UK, affecting about 1 in 1000 people. The average age at diagnosis is 60 although people can be affected as early as 40. AL amyloidosis is caused by abnormal blood cells called plasma cells, and is usually treated with chemotherapy. Without treatment those with AL amyloidosis can have a life expectancy as short as 6 months, so early diagnosis and treatment is crucial.

ATTR amyloidosis is caused by an abnormal protein called transthyretin (TTR), and there are two types. In hereditary or variant ATTR amyloidosis a faulty gene makes the abnormal TTR protein; this form can be passed down in families. The second form is known as wild-type ATTR amyloidosis and here the TTR protein is believed to become abnormal with increasing age. This type has historically been characterised as a disease of ‘elderly white men’; however, data are emerging to indicate that the condition can be detected as early as the 50s, and is underdiagnosed in women and minority ethnic communities. Both types may be treated with medicines which reduce the amount of abnormal TTR protein

Source: sqadia.com

AA amyloidosis is the result of chronic inflammatory conditions such as rheumatoid arthritis, Crohn’s disease, or inherited disorders such as familial Mediterranean fever and other periodic fever syndromes. This form can affect people at any age, and can be treated with anti-inflammatory medicines. AA amyloidosis is becoming more and more rare as many excellent anti-inflammatory medicines have become available.

There are many other rarer types of amyloidosis - many of which are hereditary - that currently have no effective medical treatments. Some examples of these are AFib, ALECT2, AGel and AApoAI amyloidosis. Currently the only form of treatment for these types is kidney and/or liver transplantation. Often, the amyloidosis can even affect the new organ, meaning multiple transplants or lifelong dialysis. Whilst these conditions are rare, their hereditary nature can mean that in some families many individuals across different generations may be affected. There is therefore a huge unmet medical need in these forms of amyloidosis.

Impact in the UK

Slow or no diagnosis

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

Inequity of care

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.

Increasing patient numbers

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.

Lane et al. Circulation 2019

Why this matters

What needs to be done

By supporting increased awareness, research, and patient care, you can help ensure that those affected by amyloidosis receive the timely and effective treatment they need. This is an opportunity to make a real difference in the lives of those battling this devastating disease.

Get in touch with us

Ways of contacting us

• Email us at [email protected]
• Write to us at Amyloidosis UK, Hackamore House, Grove Lane, Redlynch, Salisbury, SP5 2NR