Rare autoimmune rheumatic diseases

What are rare autoimmune rheumatic diseases? 

A rare disease is a condition that affects fewer than 1 in 2,000 people. It is estimated that around 3.5 million people in the UK are living with one of over 7,000 rare diseases. While rare diseases are “collectively common”, the individual diseases are diverse making them difficult to diagnose, treat and research.  

Rare autoimmune rheumatic diseases (RAIRDs) are a group of diseases in which the body’s immune system attacks healthy cells, rather than fighting infection. This can result in inflammation/damage to tissues and organs which, in some cases, can be fatal. The Rare Autoimmune Rheumatic Disease Alliance explains that RAIRDs can affect many parts of the body simultaneously (including joints, skin, lungs, kidneys and heart) and often require coordinated, cross-specialty medical expertise. 

RAIRDs are not primarily caused by genetic problems. They tend to occur in adults and disproportionally affect women. In these respects, RAIRDs are different from other rare diseases. 80% of rare diseases are genetic in origin and 75% of rare diseases affect children. 

RAIRDs can be split into two groups:  

• connective tissue disorders  

• lupus  

• scleroderma  

• myositis  

• Sjögren’s syndrome  

• systemic vasculitis (inflammation the blood vessels) 

• ANCA-associated vasculitis  

• giant cell / temporal arteritis  

• Takaysu’s Arteritis  

• Behcet’s disease 

There is currently no cure for RAIRDs and all of the conditions can significantly impact on both the quality of life and life expectancy. Scleroderma and Raynaud’s UK states that at least 170,000 people in the UK live with RAIRDs. 

Due to the relatively small numbers of people affected, people living with rare diseases often face complex journeys to diagnosis and typically experience long delays (from four to five years, on average) from onset of symptoms to diagnosis. 

Quality standard for rare diseases 

In addition to experiencing delays in diagnosis, people with RAIRDs can struggle to access appropriate services and treatment. The ‘Rare Disease Forum Independent Advisory Group on quality standards’ has called for the development of a quality standard for rare disease. 

In England, quality standards are developed by the National Institute for Health and Care Excellence (NICE).  

NICE published “strategic principles” in May 2024, outlining its approach to developing guidance relating to rare diseases. It said NICE will not routinely produce guidelines relating to single rare diseases but will seek to identify commonalities between conditions, so it can provide products that can be applied across groups of rare diseases. It said it will work to improve the evidence base for rare diseases and it aims to stimulate innovation to find cost-effective treatments for rare diseases. 

Commissioning and delivering health services for rare diseases 

NHS England directly commissions specialised services to support people with a range of rare and complex conditions. Within these approximately 150 specialised services, 80 are considered to be “highly specialised services”.  

The Rare Diseases Advisory Group (RDAG) makes recommendations to NHS England and the devolved administrations on developing and implementing the strategy for rare diseases and highly specialised services. 

While NHS England commissions most specialist services for patients with rare diseases, NHS Integrated Care Boards (ICBs) commission some secondary care services for these diseases. ICBs have a statutory responsibility to commission services which meet the needs of their local population. 

Rare disease collaborative networks (RDCNs) are groups of providers who have an interest in developing understanding of a specific rare disease. They aim to progress research, increase knowledge and improve patient experience. 

The Rare Autoimmune Rheumatic Disease Alliance’s (RAIRDA) 2024 manifesto calls on the government to support the creation and funding of regional specialised networks for RAIRDS. It suggests the Eastern Network for Rare Autoimmune Disease could act as a blueprint for such networks. 

RAIRDA has also set out priorities for government, NHS bodies and other relevant bodies. 

Government policy on rare diseases 

UK Rare Diseases Framework 

The UK Rare Diseases Framework, published in January 2021, set out priorities for England, Scotland, Wales and Northern Ireland to: 

• speed up diagnosis 

• raise awareness of rare diseases among healthcare professionals 

• provide better coordination of care 

• improve access to specialist care, treatment and drugs. 

Since the framework was published, all four parts of the UK have published action plans, outlining their commitments to deliver on the framework. 

England Rare Diseases Action Plan 

The government published the first England Rare Diseases Action Plan in February 2022, outlining 16 actions to meet the following aims: 

• Making it easier for more rare disease patients to access the coordinated care of multiple specialists without the need to travel long distances. 

• Developing improved new-born screening so diagnoses can be made earlier, and patients can benefit from new therapies as they become available. 

• Ensuring all healthcare professionals are aware of rare diseases and know where to go to access further information and advice. 

• Supporting rapid and affordable access to cutting-edge therapies across all regions of England. 

A second annual action plan was published at the end of February 2023, setting out progress against the previous plan and outlining a further 13 actions. 

The England Rare Diseases Action Plan 2024 , published in May 2024, sets out progress since the second action plan and includes seven more actions, including implementing networked models of care for rare diseases and addressing health inequalities for people with rare conditions. 

The action plan sets out progress over the previous year against the actions identified in the 2022 and 2023 plans. This includes a workshop held in partnership with RAIRDA, which helped to improve understanding of the challenges faced by people with non-genetic rare conditions. RAIRDA has published a report on the workshop. 

Research into rare diseases 

The Department of Health and Social Care funds research into all diseases via the National Institute for Health and Care Research (NIHR). 

In July 2023, the NIHR announced the establishment of a UK Rare Disease Research Platform, with a £14 million investment over five years from the NIHR and the Medical Research Council (MRC). 

In September 2023, the NIHR, in collaboration with the MRC, industry and charity stakeholders and the devolved administrations, published a report detailing the UK’s rare disease research landscape. The report says that over £1.1 billion was invested in rare disease research by the UK Government and charities in the five-year period from 2016 to 2021. 

Further reading

• Patients with rare diseases, House of Commons Library, 8 March 2023