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For the first part of our autoimmune disease series, we look at what autoimmune disease is, a few surprising facts and the limitations of testing.
Our immune system is responsible for protecting the body from foreign substances such as bacteria and viruses. The immune response is a tightly regulated process and is very important in keeping us fit and healthy. Autoimmune diseases occur when the body recognises our own cells as harmful and initiates an inappropriate immune response. This leads to a wide variety of symptoms ranging from fatigue, muscle pain, weight gain/loss to the destruction of body tissue.
The phrase ‘autoimmune disease’ does not describe a single disease but covers a huge variety of diseases that can affect almost any part of our body.
An autoimmune disease can affect specific parts of the body, such as in coeliac disease where the lining of the small intestine becomes inflamed, and multiple sclerosis where the immune system attacks the nerve cells in the brain and spinal cord. But some autoimmune diseases can affect almost the entire body, such as lupus which affects the skin, heart, lungs and kidneys. Lupus sufferers can develop a distinctive characteristic butterfly-shaped rash over their cheeks and nose. Like many of the autoimmune diseases, the cause of lupus is poorly understood, and diagnosis can sometimes be difficult.
Interestingly, two of the most common thyroid diseases, Graves’ Disease and Hashimoto’s thyroiditis, are caused by an autoimmune response. In Graves' disease, the immune system produces antibodies which cause the thyroid to produce an excess of hormones. In Hashimoto's thyroiditis, the body attacks the cells in the thyroid gland leading to a decrease in the amount of hormones produced.
As there are many different types of autoimmune disease, there are also a wide range of symptoms, but often the early symptoms can be similar and include:
• swelling and redness
• numbness and tingling in the hands and feet
• hair loss
• skin rashes
Individual autoimmune diseases also have their own unique symptoms. For example, Addison's disease causes low mood, decreased appetite and increased thirst. Hashimoto's disease on the other hand causes weight gain, fatigue and slowed heart rate. Some autoimmune diseases like psoriasis or rheumatoid arthritis (RA) cause flare-ups, where symptoms come and go.
In general, the diagnosis of an autoimmune disorder requires a combination of blood tests, a thorough review of symptoms and a physical examination. Autoantibody tests are useful to help diagnose an autoimmune disorder and in some cases, they can also be used to help evaluate the severity of the condition and monitor treatment. However, a diagnosis of autoimmune disease is never decided solely on the autoantibody results.
We spoke to Peter Prinsloo, Head of Clinical Governance here at Medichecks, about the limitations of testing for autoimmune disease:
'The issues with autoimmune testing vary from test to test but using lupus an example, the presence of anti-nuclear antibodies does not necessarily mean the individual will develop an autoimmune disease, in fact the majority of positive anti-nuclear antibody (ANA) tests are not associated with autoimmune disease (particularly at low levels). In some clinics, it has been reported that less than 10% of those with low to moderate positive ANA levels were diagnosed with an ANA-associated autoimmune disease. There is no absolute cut-off at which a positive ANA is clinically significant, however, the higher the ANA level the more likely it is to be associated with autoimmune disease. The same can be said for TTG antibodies when testing for coeliac disease (but also vice versa i.e. a negative test does not rule out that coeliac disease is absent).
Autoantibodies are a good screening tool to see if something is wrong in those with symptoms, or to confirm certain diseases, but an absence of these antibodies does not necessarily exclude certain diseases, nor does the presence of antibodies necessarily confirm an autoimmune disease. This is often seen with thyroid disorders where a positive antibody result does not necessarily equate to abnormal thyroid function, and abnormal function is quite often seen without any detectable antibodies.'
There is no single cause for autoimmune disease; our genes, environmental toxins and diet are all thought to contribute to the development of an autoimmune response. If we have an autoimmune disease this does not protect us from getting another, in fact, it increases the risk of further autoimmune diseases developing in our body. Because our genes are partly responsible for the development of autoimmune diseases, it is also common for multiple members of a family to suffer from an autoimmune condition.
Autoimmune disease can affect any one of us but surprisingly nearly 80% of those who suffer from autoimmune diseases are women  and for lupus, in particular, more than 90% of sufferers are women . Although there is no conclusive reason as to why this is, female sex hormones have been found to promote a woman’s immune response which leads to an increased likelihood of developing an autoimmune condition.
Currently, there is no cure for autoimmune disease and although certain medications can be effective at alleviating symptoms, diet is also thought to play a very important role. Improving our gut health and aiding digestion can help to manage symptoms and allow sufferers to lead healthy, active lives.
For those with an autoimmune disease, it is suggested that they reduce their intake of gluten, refined sugars and dairy as these food types can cause inflammation in the body. It is also advised that these food types are avoided as they can encourage flare-ups.
1. Health. (2019). https://www.health.com. [online] Available at: https://www.health.com/psoriasis/autoimmune-disease-women-genes [Accessed 5 Feb. 2019].
2. Vincent J. Tavella, M. (2019). Lupus: Causes, symptoms, and research. [online] Medical News Today. Available at: https://www.medicalnewstoday.com/articles/323653.php [Accessed 5 Feb. 2019].
3. Btf-thyroid.org. (2019). Home - British Thyroid Foundation. [online] Available at: http://www.btf-thyroid.org/ [Accessed 5 Feb. 2019].