Rare autoimmune rheumatic diseases (RAIRDs) can be split into two groups: connective tissue disorders (lupus, scleroderma, myositis, primary Sjögren’s syndrome) and systemic vasculitis (ANCA-associated vasculitis, giant cell arteritis, Takaysu’s Arteritis and Behcet’s disease). These conditions are characterised by the body’s own immune system becoming overactive and attacking healthy tissues, often in multiple organs throughout the body simultaneously, leading to tissue or organ damage which can be fatal.
These conditions can affect many parts of the body (including joints, skin, lungs, kidneys and heart) and often require cross-specialty medical expertise. Unlike the vast majority of rare diseases, these conditions predominantly occur in adult life and do not have a simple genetic link. They also disproportionately affect women: for example, 80% of lupus patients are women. The impacts of these conditions on a patient can vary depending on the organ(s) affected but they can be severely life limiting and life threatening.
Sjögren’s syndrome is the UK’s second most common autoimmune rheumatic disease, yet the condition remains under recognised and frequently under treated. It does not command a high profile within the medical profession, and the general public is largely unaware of the problems faced by sufferers.
In reality, Sjögren’s syndrome can be a debilitating, distressing and miserable condition. It affects approximately 0.6% of adults in the UK¹, with a mean age of 50 years. 90% of patients are women.
Susie: “Every morning when I wake up, I wonder what kind of day it will be”
Scleroderma & Raynaud’s
Scleroderma is a chronic and complex multi-organ disease. There are two main types of scleroderma: localised (affects mainly the skin) and systemic (internal organs are affected as well as the skin). With systemic sclerosis, the heart, oesophagus, blood vessels, kidneys, lungs, and digestive system can all be involved. Scleroderma affects approximately 20 in every 100,000 people.
Raynaud’s is a common condition that affects up to 10 million people in the UK. When we are exposed to the cold, a normal response of the body is for the blood vessels, such as those in the fingers and toes, to become narrower. When someone has Raynaud’s, the narrowing of the blood vessels is more extreme, resulting in the skin changing colour. The fingers and toes may change from white to blue, and then to red. A Raynaud’s attack can be very painful, especially as the circulation returns. Raynaud’s can also affect the lips, nose, ears and nipples in the same way. It occurs more commonly in women, and often presents before the age of 30.
Sue: “When you do understand it, you can learn to live with it and to deal with it”
There are 2.5 million people worldwide who are living with scleroderma, including around 19,000 within the UK.Source
Lupus is a multi-symptom disease that can affect almost any part of the body. There are two main types: systemic lupus erythematosus and discoid lupus, which affects the skin.
Published estimates of the number of people in the UK with lupus are between 25-96 per 100,000, varying according to method of case ascertainment, gender and ethnicity, with more recent higher estimates possibly reflecting improved survival. The majority (80%) of people living with lupus are women, and the condition is more common amongst people of Black, Asian or Chinese ethnic origin. Lupus is not contagious.
Maryann: “I was a fighter. I guess my body was so used to my ‘warrior’ attitude that it decided to fight itself too”
Vasculitis is a collective term for a group of autoimmune diseases involving inflammation of the lining of the blood vessels. There are 18 varied types of vasculitis, defined by the size of vessel affected. Reliable statistics on prevalence for rarer types of vasculitis are not available. Research suggests that the prevalence of ANCA vasculitis is 26 per 100,000, with an annual incidence of 1200 new cases nationally.
Dave: “I honestly don’t believe my GP fully understands my situation – he doesn’t have time”
Vasculitis is a rare inflammatory disease which affects about 2000-3,000 new people in the UK each year.Source
For more information about charities that support these conditions, visit the websites of our member charities.