Blood is made up of red blood cells and white blood cells. The red blood cells carry oxygen from the lungs to the body and return carbon dioxide back to the lungs to be breathed out. Red blood cells are also responsible for forming blood clots to prevent blood loss.

White blood cells (also known as immune cells) are made up of several different type of cells with the primary roles being protection of the body against viruses, bacteria, parasites, and cancer cells. In some instances, the function of the white blood cells malfunction and start to attack tissues/organs of the body. In other words, there is ‘self-attack’.

There are over 100 different autoimmune diseases, are more common in women than in men (78% vs 22%) and they are not contagious. In most instances there is a genetic predisposition to developing an autoimmune disorder, although some risk factors include, certain medications, smoking, exposure to toxins and obesity. Diagnosis is usually based on list of symptoms, duration, severity, family history, and lab tests including antinuclear antibody tests, complete blood cell counts, erythrocyte sedimentation rate (ESR), genetic blood testing (HLA-typing), scans, x-rays; the combination of symptoms and markers determines an autoimmune disorder.

Relating to genetic testing, HLA-typing is done; HLA are markers on most cells of the body where the immune system uses these markers to distinguish between something foreign in the body (non-self) or something that belong to the body (self).

There has been much interest in recent times on determining triggers for autoimmune disorders, and evidence suggests that exposure to certain bacteria or viruses such as, Epstein-Barr virus (EBV), can trigger autoimmunity. As such, in vaccine research, developing a vaccine against EBV, may protect against development of certain autoimmune diseases; of which work is currently in progress. Some examples of autoimmune disorders with some further expanded are summarised below:

Autoimmunity of the joints and muscles

Rheumatoid arthritis, Sjogren’s syndrome, lupus, psoriatic arthritis.

Rheumatoid arthritis, immune cells attack tissues/cells lining the joints of fingers, wrists, knees, ankles, toes, feet, leading to inflammation. This results in damage to the cartilage and joints and deformity can result. Other parts of the body can also be affected. The age of onset is commonly between 30-60 years of age, although young-onset rheumatoid arthritis (YORA) can develop in 16-40 year old’s and later-onset rheumatoid arthritis (LORA) occurs in those over 60. The cause of rheumatoid arthritis is not clear, but a combination of genetic and environmental factors and hormones are triggers. In regard to genetic, a person who is HLA-DRB1 positive has a risk of developing rheumatoid arthritis as there is a close associated between HLA-DRB1 and rheumatoid arthritis. Of interest, HLA-DRB1 is also associated with type-1 diabetes.

Autoimmunity of the digestive tract

Inflammatory bowel disease (Crohn’s disease and ulcerative colitis) and celiac disease.

Celiac disease results in immune cells attacking the small intestine. This is triggered by gluten (a protein found in wheat, barley, rye). As there is a genetic close association between those who are HLA-DQ2 or HLA-DQ8 positive and celiac disease, small parts of the gluten (peptides) bind to the HLA- molecule expressed by cells in the small intestine, triggering immune cells to attack this complex. As a result, there is destruction of the small intestine wall (the mucosa), impairing ability to absorb nutrients leading to malnutrition. Of note, not everyone who expresses these HLA-gene types will develop the disease. The best treatment for celiac is gluten avoidance.

Autoimmunity of the nervous system

Multiple sclerosis, Guillain-Barre syndrome, chronic inflammatory de-myelinating polyneuropathy.

Multiple sclerosis (MS) is a disorder where immune cells attack the myelin sheath, or a ‘blanket’ which cover the nerves. This results in damage to nerve fibres of the central nervous system leading to neuronal signal loss between the brain and the body, and over time it can lead to muscle weakness, loss of balance, spinal cord damage and vision issues. There are four different types of MS, those being, (i) clinically isolated syndrome, where an episode is recoded but do not develop MS, (ii) relapsing-remitting MS, the most common form of MS with flare-ups (new or worsening symptoms) followed by remission (no symptoms), (iii) primary progressive MS where symptoms slowly progress with no remissions, and (iv) secondary progressive MS where symptoms progressively worsen. In regard to genetic, there is an association between MS and HLA-DRB1.

Autoimmunity of the endocrine system

Graves’ disease, Addison’s disease, Hashimoto’s thyroiditis

Autoimmunity of the digestive tract

Inflammatory bowel disease (Crohn’s disease and ulcerative colitis) and celiac disease.

Autoimmunity of the skin

Psoriasis, dermatomyositis, scleroderma, pemphigus, pemphigoid, vitiligo

Other Autoimmune disorders

Type-1 diabetes, autoimmune vasculitis, pernicious anaemia, myasthenia gravis, reactive arthritis

Treatment

Treatment for autoimmune disorders is via medication (usually corticosteroids or other anti-inflammatories), in order to limit damage by decreasing inflammation and slow progression of disease. Other treatment options can include lifestyle changes, nutritional therapy, physical therapy, and occupational therapy. Researchers are developing new drugs to stop inflammation and to stop disease progression. In addition, several vaccines have been developed which are in lab research stage with some entering into human clinical trials.

Professor Vasso Apostolopoulos. Photo: Supplied