Amyloidosis

Information for patients

If you are in the UK, and your doctor has suggested you may have amyloidosis, you should ask them to refer you to the National Amyloidosis Centre at the Royal Free Hospital as soon as possible.

Outcomes are best when treatment is started early in the course of disease and you do not need to wait for a definite diagnosis of amyloidosis from your local doctor, or for determination of which type of amyloidosis.

Information for Referring Physicians

Please note that information about our Histology testing service can be found here and information about our Genetics testing service can be found here.  The information contained on this page is only for the referral of patients to our service. Referral letters for the amyloidosis service should be addressed to one of the following consultants:

• Dr Oliver Cohen, consultant haematologist
• Professor Marianna Fontana, Hon consultant cardiologist
• Professor Julian Gillmore, Hon consultant nephrologist
• Professor Helen Lachmann, Hon consultant nephrologist
• Dr Shameem Mahmood, consultant haematologist
• Dr Ana Martinez Naharro, consultant cardiologist
• Dr Sri Ravichandran, consultant haematologist
• Professor Ashutosh Wechalekar, Hon consultant haematologist
• Dr Carol Whelan, consultant cardiologist

Please include the following details in the referral:

• Patient contact details, including full address, email and telephone number(s). 
• Name and full contact details of referring consultant and/or GP. 
• Any recent biopsies including bone marrow (date and hospital where performed) and a copy of the final biopsy report.
• Results of previous imaging (date and hospital where performed) and a copy of the final report: 
• Echocardiogram, DPD or other bone scans, Cardiac MRI, CT or CT PET scan results, Skeletal survey.
• Any implanted metal work or devices such as pacemakers or ICD and if they are CMR compatible.
• If the patient has organ failure details of dialysis or organ transplantation.
• Relevant blood tests, in particular:
• Serum immunoglobulins, serum and urine electrophoresis and immunofixation and serum free light chan assays
• Renal and liver function, quantification of proteinuria
• Cardiac biomarkers such as NT pro-BNP and tropnin
• Previous bloods which assess chronic inflammation such as CRP, ESR and WBC if inflammatory disorders are suspected.

Referral letters for patients with ATTR cardiac amyloidosis to be considered for tafamidis treatment should be addressed to one of the following consultants:

• Professor Marianna Fontana, Hon consultant cardiologist
• Professor Julian Gillmore, Hon consultant nephrologist
• Dr Ana Martinez Naharro, consultant cardiologist
• Dr Carol Whelan, consultant cardiologist

Please include all the following details in the referral:

• Patient contact details, including full address, email and telephone number(s).
• Name and full contact details of referring consultant and GP (including GP postcode).
• Latest clinic letter with comorbidities and medication.
• Latest blood tests
  • renal profile (actual results and date)
  • liver profile (actual results and date)
  • NT-proBNP (actual results and date)
  • Serum IF, urine IF (actual results and date)
  • Serum free light chain results (actual results and date)
• Confirmation that biopsy diagnosis has already been made with amyloid typing performed at NAC or if biopsy performed within last 5 years but not typed at NAC - biopsy site, date of biopsy, and hospital where performed and a copy of the final biopsy report.
• Results of previous imaging (date and hospital where performed) and a copy of the final report:
  • latest Echocardiogram (report in full and date)
  • DPD or other bone scans (report in full with Perugini grade and date)
  • latest Cardiac MRI if performed (report in full and date)
• TTR genotype (report in full if not done at NAC).

Provision of the full data set in the referral will enable early assessment, potentially via remote consultation and prescription of tafamidis to eligible patients.

Referrals for the systemic autoinflammatory syndromes service should be addressed to:

• Professor Helen Lachmann, Hon consultant nephrologist
• Dr Charalampia Papadopoulou, consultant paediatrician

This service is commissioned by NHS England Highly specialised services to diagnose rare genetic causes of autoinflammation and to provide biologic therapies for the treatment of Colchicine resistant Familial Mediterranean Fever (CrFMF), TNF receptor Associated periodic syndrome (TRAPS), Cryopyrin Associated Periodic Syndrome (CAPS), Mevalonate Kinase Deficiency (MKD), Deficiency of Adenosine Deaminase 2 (DADA2), some Interferonopathies and Schnitzler’s syndrome.

Requirements for clinical referral:

1. Evidence of suggestive symptoms and inflammation demonstrated by significantly elevated CRP, SAA or raised WBC and ESR with symptoms.
2. Suggestive symptoms with a family history of autoinflammatory disease or AA amyloidosis.
3. In patients with suspected acquired autoinflammatory disease and evidence of persistent inflammation full details of:   
   1. Previous imaging with reports.   
   2. Biopsies with reports. 
   3. Previous treatment attempts with medication, dates and outcomes. 
   4. Blood work including auto antibodies, haematology work up and infectious work up.
4. For a second opinion on patients with:
   1. a. suspected recurrent idiopathic pericarditis evidence that they fulfil European Society of Cardiology (ESC) criteria for recurrent idiopathic pericarditis including imaging reports and that they have been started on prophylactic colchicine and are already receiving ongoing care from an experience cardiology/rheumatology unit.
   2. b. suspected adult onset Stills disease evidence that they fulfil classification criteria including imaging and serology reports and a full treatment history and are already receiving ongoing care from an experience rheumatology unit.
5. Full details of all teams involved in the patients current care. Referred patients must remain under care of the referring team. Patients without ongoing local care arrangements can not be accepted for national specialist services review.

Genetic testing for autoinflammatory disease can be requested directly without a clinical referral using this link.

The service does not provide emergency, nor routine secondary care and all patients must remain under shared care arrangements with their local referring teams.

Send referrals to:

National Amyloidosis Centre

Royal Free London NHS Foundation Trust

Pond Street

London NW3 2QG

Email: rf.amyloidosisadmin@nhs.net 

If you wish to check availability of appointments please contact:

Mr Rizwan Shaukat

Tel:  020 7433 2732

Email:  rf.amyloidosisappointments@nhs.net

If you wish to discuss any clinical issues prior to the referral please contact:

Amyloid Centre Nurse help line on tel: 077 9098 9695

Cerebral Amyloid Angiopathy

Please note that the NAC does not have expertise in the investigation/management of cerebral amyloid angiopathy.  If that is the suspected diagnosis please consider referral to:

Professor David Werring, Comprehensive Stroke Service, National Hospital for Neurology & Neurosurgery, Queens Square, London, WC1 N3BG.  uclh.stroke.admin.nhnn@nhs.net

The team at the NHS National Amyloidosis Centre (NAC) at the Royal Free Hospital welcomes the news that the National Institute of Health and Care Excellence (NICE) has approved the funding of tafamidis in eligible NHS patients with transthyretin amyloid cardiomyopathy (ATTR-CM) from England and Wales.

The prescription of tafamidis to eligible patients with ATTR-CM will be via the NAC and the existing NHS referral pathway for patients with suspected ATTR-CM, available via this page or the UCL website remains unchanged.

The NAC, together with NHS England and Royal Free London, are putting in place policies and procedures to enable a smooth and timely roll out of tafamidis for the prevalent population of patients with ATTR-CM. The NAC will contact eligible patients at the earliest opportunity.

Our clinical evaluation usually takes one to two days, and hospital or hotel overnight accommodation can be arranged where necessary.

We recommend you bring a family member or friend with you if possible. There is a lot of information to take in and it will help to have someone with you to support you and help you. The evaluation includes:

• blood and urine tests
• ECG (electrocardiogram to check your heart’s rhythm and electrical activity) and echocardiogram (ultrasound scan of the heart)
• whole body SAP scan to establish the distribution and quantity of amyloid deposits
• additional tests in some patients may include:
  • abdominal fat biopsy
  • bone marrow biopsy
  • DPD scan of the heart 
  • cardiac MRI scan
• physician evaluation
• specialist nurse consultation

The doctor who evaluates you will explain your diagnosis and make recommendations regarding a suitable treatment plan. The specialist nurses explain and discuss practical nursing issues during the initial evaluation and are available afterwards for patients and relatives to contact with any questions that arise. 

Our approach to each patient with amyloidosis is tailored individually to the type of amyloid and to patients’ particular problems. 

Having a SAP scan

The safe, painless SAP scan enables doctors at the National Amyloidosis Centre to pinpoint the location and amount of amyloid within your body’s organs without the need for a biopsy (where a sample of tissue is taken from the body). 

This routine clinical test was developed by Professor Sir Mark Pepys and Professor Philip Hawkins at the centre in 1987 to provide an assessment of both the initial extent of each patient’s amyloidosis and how it changes over time.

It is the only existing method for non-invasive diagnosis and comprehensive follow up of total body amyloidosis. The National Amyloidosis Centre is the only place in the world where the SAP scan is routinely available.

Serum amyloid P component (SAP) is a normal blood protein, present in everybody.

In healthy people there are very small quantities of SAP, and it is only present inside the bloodstream, but not in the organs.

In the bodies of patients with amyloidosis, in addition to the small quantities of SAP in the blood, there are large quantities of SAP coating the amyloid deposits in the organs. In the SAP scan, all of this coating shows up clearly, as if it has been highlighted, or labelled.

The test involves injection of a small amount of radioactive labelled human SAP as a tracer into a vein and then either that afternoon or the next day lying down for about 25 minutes for the scan. The camera is silent and takes pictures from your head to your knees. It is not enclosed, so claustrophobia is not usually a problem.

Amyloidosis is a rare disease. Most people have never heard of it until they or their family member or friend is diagnosed. Many doctors know little about the condition. Patients, friends, family and carers often have many questions.

On this page, you will find patient information videos and details of patient support groups you can join.

Patients are at the heart of everything we do at the National Amyloidosis Centre. We want to continue to improve both the clinical care we provide and our patients’ overall experience.

We aim to do this by listening to what our patients tell us and by putting their suggestions into practice. If you have any feedback about our services, please email rf.amyloidosisadmin@nhs.net.

Patient support groups 

Myeloma UK groups — for patients with AL amyloidosis

The charity Myeloma UK welcomes patients with AL amyloidosis at support groups in around 60 locations around the UK — read more information on Myeloma UK.

The UK ATTR Amyloidosis Patients’ Association (UKATPA)

This charity was founded in 2017 by a group of UK patients with transthyretin (TTR) systemic amyloidosis (ATTR) to: 

• provide support and information for patients with ATTR amyloidosis
• involve patients in all aspects of management and research
• work closely with the National Amyloidosis Centre to promote interdisciplinary communication with local doctors treating ATTR patients throughout the UK

Read more information on UKATPA.

Executive summary

Alnylam and the NAC will enter a collaboration (Joint Working Agreement (JWA)) to increase the availability of genetic counselling in line with consensus on best practice to (i) all patients diagnosed with a hereditary amyloidosis gene variant (“Index Patients”) and (ii) relatives of the individuals above, regardless of whether they also have been diagnosed with a gene variant. The genetic counsellor funded under this joint working will provide support and advice to patients and their relatives. This support and advice will primarily relate to family cascade screening, implications for relatives, and information on hereditary amyloidosis disease management and relevant NHS services. The genetic counsellor will not recommend, advise or discuss individual available treatments.

In addition, this JWA will increase the capacity of the NAC to process genetic tests for hereditary amyloidosis gene variants. It is expected that the number of requests for genetic tests for an amyloidogenic gene variant will increase as a result of the increased availability of genetic counselling established by this joint working project. Alnylam will fund an additional lab technician at the NAC to assist with the processing and analysis of the increased number of requests for genetic tests for an amyloidogenic gene variant.

The project will commence in November 2023. The project term is 37 months. A short summary of outcomes and lessons learned will be published collaboratively by the NAC and Alnylam.

Expected benefits to patients, the NAC and Alnylam Patients

It is expected that patients diagnosed with an amyloidogenic gene variant will benefit from improved experiences through the provision of support, advice and information in relation to the diagnosis and its implications. The families of patients diagnosed with an amyloidosis gene variant will also benefit from support, advice and information regarding the potential implications of this diagnosis and this may lead to earlier diagnosis of family members with hereditary amyloidosis. It is expected that the experience of all individuals who undergo genetic testing for an amyloidogenic gene variant will be improved by ensuring that there are fewer delays in receiving the results of tests.

NAC

The NAC will benefit from an increased ability to meet expert opinion consensus on best practice in relation to hereditary amyloidosis. The NAC will also benefit from an increased capacity to process requests for genetic tests for an amyloidogenic gene variant. In addition to this, the project is expected to provide the NAC with some data to support a business case to be presented to RFL Trust and NHS England for the future funding of a permanent genetic counsellor and for future funding of genetic testing capacity at the NAC.

Alnylam

Alnylam is expected to benefit through the potential earlier diagnosis of hATTR patients.

Background

Cardiac amyloidosis (CA) is a progressive infiltrative heart muscle disease, caused by the accumulation of insoluble amyloid fibrils in the heart muscle (myocardium). The resulting cardiomyopathy eventually progresses to endstage heart failure. Life expectancy without access to specialised treatment is poor.

Project

The objective of the project is to improve the care of patients with CA by accelerating the clinical review and optimisation of treatment, for patients with a confirmed diagnosis of CA, as assessed by an expert clinician at the NAC.

The project will run over a total of 12 months:

• To incorporate an initial 6-month period to triage and initiate appropriate treatment for eligible patients who are already diagnosed with CA.
• This will be followed by a 6-month period to establish best working practices for ongoing management of these patients.

Benefits:

1. Benefits to Patients:

• Improved access to expert review and specialised medicines and treatments.
• Specialist Healthcare support from National Amyloidosis Centre.
• Improved adherence to medicines through specialist nurse support.
• Improved outcomes for amyloid patients (e.g., improve decision making by specialist multidisciplinary team (MDT), access to expert diagnostics and experience in treatment decision making, direct links to NAC).

2. Benefits to NHS:

• Efficiency in NAC working practice to review patients in an accelerated manner reducing impact on wider NHS organisations.
• Maintain current NAC waiting times despite an increased number of patients requiring review.
• Sharing of best clinical practice across a future amyloid network.

3. Benefits to Pfizer:

• The project will result in the identification of patients who are eligible for appropriate treatment.
• Expected increase in the speed of uptake of licensed treatment for eligible patients.
• Increase understanding of service provision.

Outcomes

To deliver an accelerated clinical review of patients already diagnosed with cardiac amyloidosis (CA) and to establish best working practices for ongoing treatment.

Proposed term of the Collaborative Working Project:

Start date: 2nd September 2024

End date: 1st September 2025

Financial Arrangement

The National Amyloidosis Centre will contribute:

• Diagnostic support: £65,100.00
• Human resource support: 1,894 hours
• Pfizer UK Ltd will contribute: Clinical Nurse Specialist and Data administration funding: £110,608.00
• Human resource: 540 hours

Joint working between (1) the National Hospital for Neurology and Neurosurgery (NHNN), (2) the National Amyloidosis Centre (NAC) and (3) Alnylam UK Ltd (Alnylam) in relation to the development and implementation of a multidisciplinary team and service evaluation

Start Date and Duration:

15 November 2024 to 31 March 2026

Project Summary:

As part of the existing clinical process, patients diagnosed with hereditary transthyretin-mediated amyloidosis (hATTR) and with suspected peripheral neuropathy (Patients) at the NAC are referred by their managing health professional to the NHNN.

The joint working project will develop and implement a process to triage and then assess these Patients at a multidisciplinary team meeting. The project will also include an evaluation of the service pathway for diagnosis and treatment of hATTR in the UK (Service Evaluation).

Expected Benefits:

Anticipated benefits for Patients:

• Fewer but more effective and directed visits to hospitals.
• Better information on their condition and treatment options due to assessment being undertaken by experts in hATTR and peripheral neuropathy.
• Patient assessment is co-ordinated and more appropriately based on clinical need than under the current system. This in turn would provide patients with a better experience of the healthcare system.
• The development of a procedure to support earlier diagnosis of patients with hATTR.

Anticipated Benefits for NHNN:

• Opportunity to advance clinical understanding of hATTR and peripheral neuropathy alongside the specialist expertise at the NAC through discussion and evaluation of Patient cases.
• Opportunity to increase the capacity of the NHNN to assess Patients based on clinical need within a shorter timeframe.
• Opportunity to improve the service for hATTR patients across neurology/neuropathy care including at the NHNN.
• If deemed necessary, provide data to support a business case to be shared with NHS England (or other relevant decision-making body agreed by the Parties) to improve the provision of neurology/peripheral nerve clinical input into the care of patients with hATTR under the care of the NAC.

Anticipated Benefits for the NAC:

• Opportunity to advance clinical understanding of hATTR and peripheral neuropathy alongside the specialist expertise at the NHNN through discussion and evaluation of Patient cases.
• If deemed necessary, provide data to support a business case to be shared with NHS England (or other relevant decision-making body agreed by the Parties) to improve the provision of neurology/peripheral nerve clinical input into the care of patients with hATTR under the care of the NAC.
• Service Evaluation will provide data to the NAC which may be useful for its operations.

Anticipated Benefits for Alnylam:

• Alnylam is expected to benefit through the potential earlier diagnosis of hATTR patients with polyneuropathy.
• Improvement in patient care through alignment with local or national guidelines