Autoimmunity

What is autoimmunity?

The immune system is the body's natural defence system which springs into action when the body is under attack from a threat such as a virus or bacterial infection. Autoimmunity is an abnormal immune response and occurs when the immune system begins to attack the body because it mistakes cells for an invader or threat. Autoimmune diseases are caused by this abnormal autoimmune response and can affect different areas of the body.

What causes autoimmunity?

The cause of autoimmunity is poorly understood and it is not known why the body mistakes the body's cells or tissue for a harmful threat. However, most scientists and experts believe they are mainly related to genetic and environmental factors. Most experts agree that genetic factors make some people susceptible to autoimmune diseases but that they will not suffer from the condition until there is a trigger, such as an infection, taking certain types of medication or pregnancy in the case of some women.

Autoimmune diseases are not contagious and cannot be passed from one person to another.

What problems are caused by autoimmune diseases?

Autoimmunity can affect different body systems and parts. The nature of symptoms will generally depend on the system or body tissue affected and the severity of the condition.

If the skin is affected symptoms may include:

• Rashes
• Irritation
• Itchy skin
• Blisters
• Changes in the colour of the skin

If the joints are affected symptoms may include:

• Joint pain
• Stiffness
• Restricted range of movement

If the thyroid gland is affected symptoms may include:

• Tiredness
• Weight gain
• Muscle aches
• Increased sensitivity to temperature

In some cases it is clear which system or organ is affected from the beginning. However, this is not always the case and general symptoms which tend to appear first include tiredness, muscle aches and a slightly raised temperature.

What organs and systems are affected?

Autoimmune diseases can have an impact on almost all organs and body systems. As a result of this they are usually classified according to the body system involved. Here is a list of autoimmune diseases classified according to the system they attack:

Blood and blood vessels:

• Pernicious anaemia
• Autoimmune haemolytic anaemia
• Systemic lupus erythematosus
• Polyarteritis nodosa
• Wegener's granulomatosis

Digestive system (this includes the mouth):

• Crohn's disease
• Primary biliary cirrhosis
• Scleroderma
• Autoimmune hepatitis
• Behcet's disease
• Ulcerative colitis

Glands:

• Thyroiditis
• Type 1 diabetes mellitus
• Graves' disease

Eyes:

• Sjogren's syndrome
• Uveitis
• Type 1 diabetes mellitus

Joints:

• Rheumatoid arthritis
• Systemic lupus erythematosus
• Ankylosing spondylitis

Heart:

• Myocarditis
• Scleroderma
• Rheumatic fever
• Systemic lupus erythematosus

Lungs:

• Sarcoidosis
• Scleroderma
• Rheumatoid arthritis
• Systemic lupus erythematosus

Kidneys:

• Type 1 diabetes mellitus
• Glomerulonephritis
• Systemic lupus erythematosus

Muscles:

• Polymyositis
• Dermatomyositis
• Myasthenia gravis

Skin:

• Alopecia areata
• Vitiligo
• Psoriasis
• Scleroderma
• Pemphigus/ pemphigoid
• Systemic lupus erythematosus

Nerves and brain:

• Multiple sclerosis
• Guillain-Barre syndrome
• Systemic lupus erythematosus

What is the diagnosis process for autoimmune diseases?

Diagnosing autoimmune disease is often difficult because symptoms vary and can be general. In many cases there is no distinguishable pattern of symptoms and this can make the cause difficult to pin-point. A diagnosis can often be reached over the course of time using the following diagnostic methods:

• Medical history: your doctor will ask you questions about your symptoms, including what kinds of symptoms you are experiencing and for how long they have been present, as well as whether or not there seems to be a pattern. Your doctor will also ask about your family history and check if you are taking any medication. It is important to inform your doctor if a family member of yours has an autoimmune disease, as this can increase your risk of having an autoimmune condition.
• Physical examination: your doctor will perform an examination to check for signs of autoimmune conditions, such as discoloured skin, inflamed joints or swollen lymph nodes (glands).
• Medical tests: there is no single test that can confirm or rule out a diagnosis of an autoimmune condition, but blood tests may be able to help doctors reach a diagnosis. In some cases people with certain conditions such as rheumatoid arthritis have specific autoantibodies in their blood. Not everyone with an autoimmune disease has autoantibodies and it is possible for some people to have autoantibodies without having an autoimmune condition. However, if an individual displays symptoms of a specific condition and has autoantibodies this indicates that they have an autoimmune disease.

It is important for patients to be patient during the diagnostic process - although it is understandable that you will want a diagnosis as quickly as possible. It often takes a series of tests and several visits to the doctor or hospital to confirm a diagnosis.

Treatment for autoimmune diseases

There are many different autoimmune diseases and they affect people in different ways. For this reason there are different treatment options. The treatment plan will generally depend on the severity of the condition, the systems or organs affected and the nature of symptoms. Common goals of treatment include:

• Relieving symptoms: treatments are designed to ease symptoms, especially if they are taking their toll on your daily life. Treatment options vary according to the severity of the condition; treatment may simply require you to take medication, including pain relief, or it could be as complex as surgery.
• Preventing damage to the organs: autoimmune diseases can cause damage to the organs, so one of the most important aims of treatment is to preserve the function of the organs affected by the specific autoimmune condition. Treatments may include insulin injections for people with type 1 diabetes mellitus and medication to prevent kidney inflammation in people with systemic lupus erythematosus. These treatments are not a cure for the disease but they can help to protect the organs.
• Targeting the way the disease works: some medicines are used to target the way the disease works and suppress the immune system to reduce symptoms; examples include cyclophosphamide and cyclosporine.

In some cases when symptoms are mild your clinician will not prescribe any treatment. This is because treatment can sometimes do more harm than good if symptoms are mild. Doctors will keep a close eye on the patient and if symptoms get worse they may recommend treatment. It is important for patients to visit their doctor on a regular basis, as leaving symptoms untreated can contribute to long-term damage.

What doctors treat autoimmune diseases?

Autoimmune diseases cause a range of symptoms that require various treatments. For this reason a team of doctors is often required to care for patients with autoimmune diseases. In some cases a single type of doctor may be sufficient, but most cases require a multi-disciplinary approach. Specialists that may be involved in your care include:

• A rheumatologist: you will see a rheumatologist if you suffer from rheumatic conditions, such as arthritis, scleroderma or systemic lupus erythematosus.
• An endocrinologist: a specialist in hormone and gland disorders, including thyroid disease and diabetes.
• A dermatologist: a specialist in skin disorders including psoriasis and alopecia areata.
• A neurologist: a specialist in conditions affecting the nervous system.
• A haematologist: a specialist in blood disorders such as pernicious anaemia.
• A gastroenterologist: a specialist in digestive disorders, including ulcerative colitis and Crohn's disease.
• A nephrologist: a specialist in conditions affecting the kidneys such as glomerulonephritis.

What are some of the problems associated with autoimmune disorders?

Autoimmune diseases affect people in different ways but they can affect several areas of your life. Problems may include:

• Low self-esteem: if you have a condition that affects your hair or skin or your joints look different, this can affect your confidence and make you feel self-conscious around other people. There may be no cure for these symptoms but treatments can often help.
• Self-care: it can be difficult to look after yourself; for example, if you have painful joints and weak muscles you may find some tasks very difficult. A physiotherapist can help you to improve mobility and strength, while an occupational therapist can help to make life easier by adapting your home or showing you other ways to carry out tasks.
• Family relationships: members of the family may find it difficult to understand your symptoms; for example, they may think you are being lazy or they may smother you and go over the top to help you to feel better. It is a good idea to talk to your family members about how you feel, tell them as much as you know about your condition and involve them in support group sessions and appointments with your care team. The more they understand the more they can help.
• Sexual relations: in some cases conditions that affect the blood vessels can cause problems, such as erectile dysfunction in men, while women who have autoimmune diseases affecting their glands may have vaginal dryness. Joint pain can also inhibit sexual relationships. It is advisable to be open and honest with your partner and discuss your relationship. If you need support or advice ask your care team or get in touch with a charity or support group. Many people find it comforting to talk to people in the same situation.
• Pregnancy: in the past some women who had autoimmune diseases were advised not to have children, but this is no longer the case thanks to improved treatment options and a better understanding of certain conditions. Some autoimmune conditions can have an impact on pregnancy and getting pregnant may make some conditions worse, but your care team will be able to discuss how pregnancy can affect you. It is advisable to get advice before you think about conceiving.