Polyautoimmunity, Multiple Autoimmune Syndrome and Autoimmune Polyendocrine Syndrome

It probably will not come as a surprise to you that autoimmune diseases share several clinical signs and symptoms, pathological mechanisms, and epigenetic and genetic factors. There is strong evidence supporting that, which indicates that autoimmune diseases have a common origin (called the autoimmune tautology).

What is the difference between polyautoimmunity and multiple autoimmune syndrome?

Just in case you are not sure what the difference is: polyautoimmunity is defined as the presence of more than one autoimmune disease in a single person. Whereas, multiple autoimmune syndrome (MAS) means that three or more autoimmune diseases exist simultaneously in a single individual. In MAS, people often have at least one dermatological condition, usually vitiligo or alopecia. Both polyautoimmunity and MAS are not uncommon. Three types of MAS has been described in the medical literature.

MAS type 1 includes: myasthenia gravis, thymoma, polymyositis (inflammatory myopathy) and giant cell myocarditis. MAS type 2 groups together: Sjögren's syndrome, rheumatoid arthritis, primary biliary cirrhosis (PBC), scleroderma, and autoimmune thyroid disease. MAS type 3 includes: autoimmune thyroid disease, Sjögren's syndrome, myasthenia gravis and/or thymoma, pernicious anaemia, Addison's disease, idiopathic thrombopenic purpura (ITP), type 1 diabetes mellitus, vitiligo, autoimmune hemolytic anemia (AIHA), systemic lupus, and dermatitis herpetiformis.

You should be aware that once you are on the autoimmune spectrum, you are much more likely to develop more symptoms characteristic of another autoimmune disease. It is therefore vitally important that once you have identified that you have an autoimmune condition, you take the necessary steps to reverse it or at least stop it from progressing. For that you need to address: diet, gut function, pathogens, toxicity, and of course it is vital that you develop a nurturing mindset that can help you rebalance the immune system and heal.

What about autoimmune polyendocrine syndrome?

Autoimmune polyendocrine syndrome (APS), also known as polyglandular autoimmune syndromes (PGA), indicates the presence of multiple endocrine gland insufficiencies within one individual. Three types of APS have been described in literature.

PGA type 1 (also known as Whitaker syndrome, or candidiasis-hypoparathyroidism–Addison's disease syndrome) is apparently quite rare but this may just be because it is under-diagnosed. The manifestations include: hypoparathyroidism (compromised calcium metabolism), hypogonadism (diminished functional activity of testes or ovaries), alopecia, vitiligo, anaemia, malabsorption, cataracts, adrenal hyperplasia.

PGA type 2 (also known as Schmidt's syndrome) is much more common. Some of the signs and symptoms can include: nausea, palpitations, frequent urination, low blood pressure, anorexia, weight loss, hypogonadism hypoparathyroidism, myalgias, Hashimoto’s thyroiditis, Graves' disease, anaemia, diabetes mellitus, tetany, thymona (thymus tumour), myasthenia gravis. Notice how many of these symptoms are quite broad, i.e. could be put down to other things.

PGA type 3 does not involve the adrenal cortex, but it includes two of the following: thyroid deficiency, type 1a diabetes mellitus, pernicious anaemia, vitiligo, and alopecia.

Certain autoimmune diseases tend to go together

There is much scientific evidence confirming that many autoimmune diseases share a similar underlying pathology and have a tendency to cluster. In fact, certain autoimmune conditions appear together frequently enough to have been given names like rhupus (rheumatoid arthritis and systemic lupus) or sclerodermatomyositis (scleroderma and myositis).

The most prevalent autoimmune disease is autoimmune thyroid disease (AITD), often associated with other organ-specific and non-organ-specific autoimmune diseases, e.g. type 1 diabetes. Because AITD is so clinically important in the context of autoimmunity, many researchers agree that it should be mandatory to screen patients with hypothyroidism or hyperthyroidism symptoms for the presence of autoimmune mechanisms, particularly when there is any suspicion of the coexistence of AITD with another autoimmune disease.

Systemic sclerosis is another autoimmune disease that is quite prevalent and often present together with systemic lupus, or rheumatoid arthritis. In fact, it has been proposed by certain researchers that systemic sclerosis should be properly investigated in all autoimmune patients because of the high possibility of its presence alongside other autoimmune conditions. In addition, it has been observed that most patients with so-called secondary APS have systemic lupus. However, it is unknown if APS and systemic lupus are two diseases coinciding in an individual, if underlying systemic lupus creates a setting for the development of APS, or if APS and systemic lupus represent two elements of what is essentially the same process.

Other pairs of autoimmune diseases that tend to be present together and have not been mentioned yet is coeliac and thyroid disease, and also psoriasis and psoriatic arthritis.

So what does it all mean?

It means precisely what natural and functional medicine practitioners have always known and applied. We need to start treating individuals, not labels and symptoms! To anyone looking at the human body holistically, it is immediately obvious that whether there is one, two, three, or more autoimmune diseases present, we are dealing with extreme imbalances within the immune system, and other systems and organs in the body.

Unless, we identify and remove what caused that imbalance in the first place, we are on a slippery slope and running a risk of developing polyautoimmunity, MAS or APS. No amount of immunosuppressants or other highly damaging drugs is going to restore that balance. Simple symptom suppression, which is the common conventional route taken in this case, will NEVER restore anyone’s health as the underlying problem has not been dealt with!

Please remember that not only genetic, but also infectious, immunological and psychological factors have all been implicated in the development of autoimmunity. In autoimmune and other inflammatory diseases, dietary, environmental and psychological factors that are known to be disease-promoting or disease-protecting mediate their effects through changes in the epigenome.

Epigenome comprises a multitude of compounds that can tell the genome (DNA) what to do! This simply means that we have more control over our health and autoimmune recovery than many people realise. So even if you have polyautoimmunity, MAS or APS, it is not too late to take control of your health. You just need to find the right practitioner that actually understands how the human body works!

If you would like a personalised programme, designed especially for you and based on your specific nutritional/biochemical status and requirements, contact me to arrange a free 15-minute no-obligation consultation to see how I can help you.

References:

Anaya, JM (2014) The diagnosis and clinical significance of polyautoimmunity. Autoimmun Reviews.  Apr-May; 13(4-5): 423-6.

Rojas-Villarraga, A et al. (2012) Introducing Polyautoimmunity: Secondary Autoimmune Diseases No Longer Exist. Autoimmune Diseases. Article ID 254319; doi: 10.1155/2012/254319
 
Eisenbarth GS, Gottlieb, PA (2004) Autoimmune polyendocrine syndromes. New England Journal of Medicine. May 13. 350(20): 2068-79.