William Moody, clinical lead for the Midlands Amyloidosis Service, has developed a blueprint for accelerating amyloidosis spoke centre activation and access nationwide.
There are several forms of amyloidosis, a systemic condition caused when protein misfolds and deposits in various organs and tissues. At the Midlands Amyloidosis Service (MAS), where I work as clinical lead, we adopt a pan-amyloidosis approach – recognising the diverse presentations of this complex disease and the importance of multidisciplinary care.
Transthyretin cardiac amyloidosis (ATTR-CM), which primarily affects the heart and can lead to progressive heart failure, provides a clear example of how specialist care and referral networks can transform outcomes. While other forms of ATTR, such as transthyretin amyloid polyneuropathy (ATTR-PN), also deserve greater awareness, partly due to their rarity relative to other ATTR subtypes, here I draw on proof points from our work in ATTR-CM to illustrate the opportunity for developing an effective, joined-up amyloidosis network.
Collaboration with the NAC
ATTR-CM is an often-missed cause of heart failure, especially in people over 65, and without early diagnosis – which can take up to seven years – it can lead to serious heart damage. Some forms of ATTR-CM can shorten life expectancy to as little as two years from diagnosis.
The true prevalence of ATTR-CM is yet to be understood. It remains generally underdiagnosed and can often mimic other conditions, including hypertensive heart failure.
Though still under-recognised, more patients are now being accurately diagnosed than ever before, and the key commonality is that for those with the non-inherited form of this condition, they tend to be in their late 70s or 80s. This means that they can’t always face a long round trip to London for treatment or even diagnosis, which can cause significant health inequity.
The National Amyloidosis Centre (NAC) at the Royal Free Hospital in London has been at the cutting edge of amyloidosis care for the past 30 years, but not everyone affected by this disease can make the journey easily, nor can their caregivers. These patients need care brought closer to home, and the MAS was established precisely to address this.
The MAS, based at the Queen Elizabeth Hospital Birmingham, was successful in being awarded NHSE commissioning this year, but this work started more than five years ago. Since 2019, we’ve diagnosed more than 250 patients at the MAS with the transthyretin form of cardiac amyloidosis, with approximately 150 of them now on disease-modifying treatments. We’ve also been able to achieve a median time of 43 days from referral to diagnosis. This is possible because for the majority (80%) of our patients with ATTR-CM, the diagnosis can be made based on imaging, blood and urine tests, without the need for performing tissue sampling. We want to uphold this efficient window of time, and that’s why we’re in the process of doubling our number of clinics to keep up with increasing demand.
We don’t yet know how many more undiagnosed patients might be out there, but we do know that many of our patients seen since 2019 might not have received a diagnosis if the MAS had not been close at hand.
A key part of our success lies in our collaboration with the NAC, sharing knowledge and best practices to spread education about ATTR. We also work with patient advocacy groups who do important work to help raise awareness and amplify the patient voice. Patients themselves are empowered with more knowledge and assurances through our half-hour sessions at the MAS, and some choose to discuss clinical trial opportunities with their healthcare teams.
But there is still much work to be done, and so much more to uncover. Roughly half of our DPD bone scans (a type of nuclear diagnostic scan that looks at heart function) come back with evidence of amyloid deposits in the heart, which again suggests an unforeseen disease prevalence. While there is an acceptance that ATTR-CM tends to affect more men than women, historically, the condition has been underdiagnosed in women and potentially at a later stage in the disease because physicians are failing to suspect the condition in females. And there are racial inequities too: 3-4% of Afro-Caribbean people carry a genetic variant that makes them more susceptible to developing ATTR, and their offspring have a 50% chance of inheriting that gene.
Expanding the network
The best way to find out more, and to capitalise on both the success of the MAS and the legacy of the NAC, is to continue expanding the network with similar spoke centres across the country to increase access equity for a vulnerable patient population. A spoke centre in Liverpool is due to open in the New Year, but it shouldn’t be the final one: funding is required for a minimum of four centres outside of London to meet the requisite demand, and to utilise the expertise of deeply invested regional clinicians eager to help.
A full network could make a meaningful difference. With earlier diagnosis and patient identification, there is a real sense of cautious optimism that the next few years could see a shift in ATTR therapeutics, with potential to better slow progression and improve quality of life.
But to administer treatment to the patients who need it most, we first need to find them, from every part of the country, and as early as possible. Let us move forward in accordance with the NHS Rare Diseases Framework, whose key priorities include faster diagnoses and improved access to specialist care. A robust, regional spoke centre network would be integral to this effort and could serve as a blueprint for future efforts to tackle patient access inequity in this country.
This publication has not been sponsored or paid for by any external entities. The insights and perspectives shared are organic, reflecting the author’s genuine viewpoints and professional expertise within the industry, with the content development supported by AstraZeneca. AstraZeneca contracted the author for their time spent on this article.
