Feature / Inside rheumatology

The rheumatology service at Alder Hey Children’s NHS Foundation Trust sits within the medical specialties business unit and covers a range of diseases affecting joints and muscles, including connective tissue disorders and systemic vasculitides involving any organ system. (Vascultis diseases or vasculitides are characterised by inflammation of blood vessels and involve the immune system).

With no specialist paediatric rheumatologists in local district general hospitals, the trust provides almost all the paediatric rheumatology care across the North West. But some care is delivered on a hub-and-spoke basis with shared care for aspects of services such as drugs administration. At least 58 outreach clinics a year are run in eight district general hospitals in the Alder Hey catchment area by Alder Hey consultant paediatric rheumatologists. Many local hospitals have a general paediatrician with a special interest in paediatric rheumatology (having spent a year of their training in a paediatric rheumatology environment).

Professor Michael Beresford, one of five consultant paediatric rheumatologists at the trust, explains why it is such a specialist area. ‘The nature of our conditions is that they are rare, chronic and serious. Many are life-threatening, with children generally on immunosuppressant drugs that profoundly suppress the immune system, meaning they can be at risk from serious infection,’ he says. ‘So even though we may do shared care, many of the children will gravitate back to Alder Hey and even with very simple problems the general hospital will escalate to us very quickly.’

Diagnosis itself can be very difficult, with often multiple organ systems affected. The importance of related specialties – radiology, pathology, clinical specialist laboratories, nephrology, neurology and haematology – also reinforces the use of a specialist centre.

The work breaks down into four main areas:

• Childhood arthritis
• Connective tissue diseases (including lupus, juvenile dermatomyositis and childhood scleroderma) and vasculitides
• Mechanical causes of joint pain
• Unexplained medical problems and chronic pain syndromes affecting the musculoskeletal system.

The most common form of arthritis in children is juvenile idiopathic arthritis (JIA), which includes a range of conditions covered. Alder Hey has about 700 patients on its books who have some form of arthritis, and 60-80 new patients are added each year. ‘Almost all the diseases are life-long and go through to adulthood and the patients require ongoing specialist support,’ says Professor Beresford.

In terms of the connective tissue disorders, many are rare. Juvenile onset lupus has an incidence of very much lower than 1 in 100,000. But the patients can be among the most complex treated at the hospital. Children in the early stages can be in hospital for months. In general, Alder Hey will see 10-15 new patients each year across these rare disorders.

Many children even with the more common JIA can take a circuitous route to Alder Hey. Some will have seen GPs, casualty doctors, general paediatricians or orthopaedic specialists before being referred to rheumatology – delays can be significant. They may typically present with complications arising from this delay in diagnosis. ‘Even with what appears to be a swollen knee, the right diagnosis is vital,’ says Professor Beresford. A differential diagnosis effectively uses a process of elimination – for example, ruling out infection, cancer and other important causes.

Tests can be wide-ranging. Some investigations may require biopsy (in theatre) and even MRI scans may need a general anaesthetic, given that the patients can be very young. A full work-up can sometimes take a week or longer. The service makes a big use of day wards in the early part of investigations, and ongoing care and treatments. This can include intravenous and subcutaneous administration of immunosuppressants and biological therapies, and intra-articular joint injections under entonox.

Paediatric rheumatology is delivered by a multidisciplinary team. As a training trust, Alder Hey has foundation-post doctors working in the department on four-month placements and trainee specialist paediatricians at every grade, including academic clinical fellows and paediatric rheumatology Grid trainees (tertiary paediatric trainees – Alder Hey is one of seven centres available nationally for Grid training).

But there are major contributions outside the medical community. Senior clinical nurse specialists (band 7) run their own clinics seeing new patients and running routine follow-ups, while associate nurses (band 6) undertake much of the liaison with GPs and general hospitals around issues such as medication monitoring and ongoing patient care. Alder Hey also has a significant number of rheumatology research funded nurses (from both commercial and non-commercially funded clinical trials / studies) linked to specific trials that can facilitate access for patients to newer, state-of-the-art treatments. 

Physiotherapy is a vital part of the service, with an extended scope practitioner and dedicated senior physiotherapists including three with specialisms in chronic pain, hypermobility and rheumatology. The service also has ties with other allied health professionals, such as podiatrists, occupational therapists and orthotists and has strong links with clinical psychology.

Each consultant in the medical team runs three outpatient clinics a week – some of them as outreach clinics in other hospitals. A ‘consultant of the week’ undertakes a ward round at least three times a week with daily rounds carried out by the junior doctors.

There is also a ‘grand’ rheumatology ward round involving several of the consultants once a week. This can take most of a morning due to patient numbers and complexity. A weekly multidisciplinary team meeting enables the wider team to feed back issues arising in other clinics and settings.

The broad aim of the treatments used is to remove pain and, where possible, reduce inflammation that can over time damage affected or neighbouring organs and joints.

As many causes are genetic or environmental triggers, treatment is not all about maintaining a steady state. A child’s immune system may respond to many triggers – even a common cold – which could prompt major joint inflammation or disease flare.

‘The problem with many of the diseases is that they can flare up at any time and spread to other joints or involve other organs, which can mean changes and escalation in the drugs used,’ says Professor Beresford. ‘Many of the drugs used can lead to other problems arising or serious side effects, with abnormalities in liver enzymes or drops in the blood count being simple examples. We therefore need to ensure there is very regular drug monitoring for their safety, as well as clinical efficacy.’

One common problem for children with arthritis is uveitis, inflammation of the eye that threatens sight. Patients need regular ophthalmology check-ups, typically monthly for the first three months. Medication is an important part of arthritis treatment and all the related connective tissue disorders and vasculitides. Alongside specific painkillers, non-steroidal anti-inflammatory drugs (NSAIDs) can target inflammation. Steroids – as tablet, infusion or injection, subcutaneous, intravenous or intra-articular – are used in more severe cases. Disease-modifying anti-rheumatic drugs (DMARDs) can slow the progression of arthritis by blocking chemicals that damage bone, tendons, ligaments, cartilage and other organs. Newer, albeit expensive, biological treatments are also emerging – anti-tumour necrosis factor drugs (anti-TNFs) block the overproduction of TNF proteins that cause inflammation.

The new biologics may signal a revolution in rheumatology, although clinical trials specifically for their use with children are running behind those for adult patients.