Information for Referring Physicians

Our services

We tailor our approach according to the type of amyloid and to patients’ particular problems. Wherever possible, we discuss with the referring physician, after which we re‑examine any available tissue biopsies. Clinical evaluation can usually be completed over 1‑2 days, during which hospital or hotel accommodation can be arranged. Investigations include:

• whole body SAP scanning
• blood and urine tests
• a detailed echocardiogram (ultrasound scan of the heart)
• DPD scanning
• cardiac MRI
• DNA analysis (on a blood sample)
• fat biopsy and bone marrow examination under local anaesthetic.

Treatment is usually administered at a local hospital or other regional centres in conjunction with the NAC. Some cases are managed by us and our colleagues at the Royal Free Hospital.

Most amyloidosis patients need long term surveillance, with 6 or 12-month specialist follow up in the short term. SAP scintigraphy and specialist cardiac MRI are required to monitor amyloid deposits. This information, together with tests such as the free light chain test for AL amyloidosis, helps to determine on‑going treatment.

We also provide patients and their families with counselling and information that may not be available elsewhere.

Referral letters should be addressed to one of the following consultants

• Dr Oliver Cohen, Consultant Haematologist
• Professor Marianna Fontana, Senior Lecturer / Hon Consultant Cardiologist
• Professor Julian Gillmore, Professor / Hon Consultant Nephrologist
• Professor Helen Lachmann, Professor / Hon Consultant Nephrologist
• Dr Shameem Mahmood, Consultant Haematologist
• Dr Ana Martinez Naharro, Consultant Cardiologist
• Dr Sri Ravichandran, Consultant Haematologist
• Professor Ashutosh Wechalekar, Professor / 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), NHS number and local hospital number.
• Name and full contact details of referring consultant and/or GP.
• Full clinical history, including whether amyloid is suspected or biopsy-confirmed.
• Patient's functional status and mobility needs.
• 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 and/or cardiac MRI
  • DPD or other bone scans
  • Whole body MRI or CT PET scan results.
• 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 chain assays
  • Renal and liver function, quantification of proteinuria
  • Cardiac biomarkers such as NT pro-BNP and troponin
  • Previous bloods which assess chronic inflammation such as CRP, ESR and WBC if inflammatory disorders are suspected.

Referrals for patients with ATTR cardiac amyloidosis

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

Download Tafamidis referral template

Please include all the following details in the referral

• Patient name, DoB, NHS number and local hospital number
• 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
• full blood count (actual results and date)
  • renal profile (actual results and date)
  • liver profile (actual results and date)
  • NT-proBNP (actual results and date)
  • Serum immunoglobulins, serum and urine electrophoresis and immunofixation (electrophoresis alone is not sufficient) and serum free light chain assay (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 dataset in the referral is necessary for assessment, potentially via remote consultation and prescription of tafamidis to eligible patients.

Referrals for systemic autoinflammatory syndromes

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. 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. 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 patient’s current care. Referred patients must remain under care of the referring team. Patients without ongoing local care arrangements cannot be accepted for national specialist services review.

Genetic Counselling at the NAC

We are currently accepting referrals for those diagnosed with a hereditary form of amyloidosis who wish to discuss their diagnosis, and those with a family history of a hereditary form of amyloidosis who wish to discuss predictive testing.

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.
• If the patient already has a genetic result, please confirm if they are a patient of the NAC or if the testing was done elsewhere (e.g. abroad).
• If you a referring a patient for predictive genetic testing, please enclose full details of the affected individual in the family, or the referral may be rejected.
  • Name
  • Date of birth
  • NHS number
  • Hospitals where they were/are investigated or treated.
  • If a family member has not been seen at the NAC, their genetic report and/or a clinic letter showing they have a hereditary form is highly recommended.
• If an interpreter is needed, and the required language.

Chemotherapy Protocols for Haematologists

Please see below possible drug dose and frequency for different chemotherapy protocols for treatment of AL amyloidosis.

The suggested protocols are intended as a guide only; drug regimens vary substantially and are individualised for each patient. The actual regimes and protocols prescribed to each patient are at the discretion of the prescribing clinician.