The Systemic Autoinflammatory Diseases Service is the only centre in the UK dedicated to the diagnosis and care of patients with fever syndromes and related disorders. 

It is based within the Royal Free Hospital, with access to state-of-the-art clinical and research facilities and a team of highly qualified staff. 

The service provides:

  • a detailed diagnostic assessment
  • DNA testing and genetic counselling
  • shared care with local teams and regular follow-ups for adolescent and adult patients with systemic autoinflammatory disorders (fever syndromes)
  • recommendations for treatment and monitoring to assess response to treatment 
  • nationally funded treatment for different fever syndromes including CAPS, TRAPS, Colchicine resistant FMF, MKD, Schnitzler’s syndrome and interferonopathies
  • information and support to patients, their families and health providers

Contact information

Email: rf-tr.amyloidosis-admin@nhs.net

Systemic autoinflammatory diseases, more commonly known as fever syndromes, are very rare diseases caused by over activity in the body’s immune system.

They can be genetic or develop without an inherited cause. 

People with these syndromes usually suffer from repeated episodes of fever and general unwellness, sometimes with other symptoms such as rashes, stomach aches and painful swollen joints. 

Each time such an episode occurs, the patient recovers, usually within a few days, without any clear cause being identified. 

Common symptoms include:

  • high fever (above 38°C, often with chills and sweats)
  • general feeling of unwellness, like that experienced during the flu
  • limb aching
  • rash
  • red sore eyes
  • mouth ulcers
  • abdominal or chest pain which can be very severe indeed
  • headaches
  • swollen glands
  • in some syndromes a gradual onset of deafness

In most cases, symptoms begin in early childhood, although some people only develop the symptoms as adults.

Patients can be ill for a long time before they are referred to us and a diagnosis is made, mainly because the signs and symptoms are not specific, and the syndromes are rare.

Many patients are referred after undergoing extensive investigations elsewhere. A definite diagnosis of a fever syndrome is made in up to half of the patients referred.

A diagnosis is usually made by looking at your symptoms, undertaking blood tests and genetic testing.

Treatment is now available for many types of inherited periodic fever syndromes and patients usually have a normal life expectancy.

We tailor our approach according to the type of fever suspected and your individual needs. For many patients, daily medication is necessary to manage the disease.

When a fever syndrome is diagnosed, you will have follow-up appointments with our doctors and specialist nurses who will recommend appropriate ongoing treatments. 

Most patients will need long-term surveillance. Where possible, our team provide this care for adult patients and teenagers at the Royal Free Hospital and children at Great Ormond Street Hospital for Children. 

If you live far away from our centre, treatment may be shared with your local hospital or other regional centres. In these cases, we can help by providing:

  • regular advice to patients and doctors involved in their treatment
  • regular reviews at the Royal Free Hospital or Great Ormond Street Hospital for Children
  • arrangements for hotel accommodation during visits

There are more than 35 different fever syndromes that have been identified. The major ones are:

  • Familial Mediterranean Fever: the most common inherited fever syndrome. It is treated with a drug called colchicine which is safe to take during pregnancy and breastfeeding.
  • TNF receptor associated periodic syndrome (TRAPS): the second commonest inherited fever syndrome. 
  • Cryopyrin Associated Periodic Syndrome (CAPS).
  • Mevalonate Kinase Deficiency (MKD): previously known as hyper-immunoglobulin D syndrome and periodic fever syndrome — HIDS.
  • Deficiency of adenosine deaminase 2 (DADA2).
  • PFAPA (periodic fever, aphthous stomatitis, pharyngitis, adenitis): a childhood syndrome.
  • Schnitzlers Syndrome: this affects older adults.
  • VEXAS syndrome: this affects older adults — usually men.

Referrals should be addressed to:

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

National Amyloidosis Centre
Royal Free London NHS Foundation Trust
Pond Street
London
NW3 2QG

Email:  rf-tr.amyloidosis-admin@nhs.net.

If you wish to check availability of appointments, please contact:

Mr Rizwan Shaukat

Tel:  020 7433 2732

Email:  rf-tr.amyloidosisappointments@nhs.net.

For referrals to be accepted please include either:

1. Evidence of recurrent longstanding suggestive symptoms and inflammation demonstrated by significantly elevated CRP, SAA or raised WBC or ESR.

2. Suggestive symptoms with a family history of autoinflammatory disease or AA amyloidosis.

In patients with suspected acquired autoinflammatory disease and evidence of persistent inflammation full details of:

   a. Previous imaging with reports.

   b. Biopsies with reports.

   c. Previous treatment attempts with medication, dates and outcomes.

   d. Blood work including auto antibodies, haematology work up and infectious work up.

For a second opinion on patients with:

a. suspected recurrent idiopathic pericarditis evidence that they:

  1. fulfil European Society of Cardiology (ESC) criteria for recurrent idiopathic pericarditis including imaging reports
  2. that they have been started on prophylactic colchicine
  3. are receiving ongoing care from an experience cardiology/rheumatology unit

b. suspected adult onset Stills disease evidence that they:

  1. fulfil classification criteria including imaging and serology reports
  2. a full treatment history
  3. are receiving ongoing care from an experience rheumatology unit

Things to remember

  • For all referrals, supply 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 cannot be accepted for national specialist services review.

Genetic testing without clinical referral

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

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