What do autoimmune diseases mean, and when is an immunology work-up needed?

The immune system’s job is to recognise and neutralise pathogens and other foreign substances. In autoimmune disease this regulation is disrupted, and the immune system may treat the body’s own cells, tissues or organs as foreign.

Autoimmune diseases may affect a single organ, or several organ systems at once. Their course varies: quieter periods can be interrupted by flares, when symptoms temporarily worsen.

What can cause autoimmune disease?

There is usually no single, clearly defined cause. Several factors together can change how the immune system works.

The following, among others, may play a role:

• genetic predisposition
• hormonal factors
• certain viral or bacterial infections
• some medicines
• environmental effects
• smoking and other lifestyle factors
• acquired disorders of immune regulation

Genetic predisposition alone does not mean the disease will definitely develop. Inherited susceptibility usually needs further external or internal factors as well.

Which systemic autoimmune diseases are more common?

Systemic autoimmune diseases can affect several organs or organ systems. This group includes, among others:

• systemic lupus erythematosus (SLE)
• rheumatoid arthritis
• Sjögren’s syndrome
• systemic sclerosis (scleroderma)
• inflammatory muscle diseases (for example polymyositis and dermatomyositis)
• mixed connective tissue disease
• systemic vasculitides (diseases with vessel inflammation)

Autoimmune diseases form a much larger group. Certain thyroid, bowel, skin and neurological conditions can also belong here.

Which symptoms may point to autoimmune disease?

Symptoms are highly variable. They depend on which organs the immune process affects, so the same disease does not always cause the same complaints. An immunology work-up may be warranted if the following last, keep returning, or several appear together:

• lasting fatigue and reduced stamina
• a general feeling of being unwell
• unexplained low-grade or returning fever
• unintentional weight loss
• enlarged lymph nodes
• returning salivary gland swelling or inflammation
• lasting dry eyes or dry mouth
• returning eye inflammation
• unexplained rashes or other skin signs
• increased or patchy hair loss
• muscle pain or weakness
• pain, swelling or stiffness in small and large joints
• repeated, unexplained blood count changes
• lasting or returning bowel inflammation symptoms
• fingers that turn white or blue in the cold

These symptoms can also belong to other conditions, so on their own they do not prove an autoimmune disease.

When should you see an immunologist?

A single general symptom, such as fatigue or joint pain, can have many causes. An immunology review is especially worth considering if:

• symptoms last or keep returning
• more than one organ system is involved
• previous tests have not explained the cause
• laboratory results raise the possibility of an immunological change
• there is autoimmune disease in the family
• an already diagnosed autoimmune disease needs follow-up
• the treating doctor recommends an immunology work-up

Sudden or severe symptoms – for example shortness of breath, chest pain, fainting, confusion, significant bleeding or rapid deterioration – should not wait for a booked specialty appointment: urgent medical help is needed.

What happens at an immunology consultation?

At the first visit the immunologist reviews complaints, previous illnesses, family history and regularly taken medicines in detail.

The assessment usually includes:

• when symptoms started, how they feel and how they have changed
• review of previous medical records and laboratory results
• a detailed physical examination
• identifying possible causes and organs involved
• a personalised investigation plan
• further specialist tests if needed
• a treatment and follow-up plan once a diagnosis is made

Please bring previous findings, discharge summaries, imaging results and a list of medicines taken regularly or from time to time.

Which tests may be needed?

An immunology work-up always follows the symptoms and history. Not every patient needs the same tests. The specialist may request, among other things:

• a full blood count
• liver and kidney function
• a urine test
• inflammatory markers
• immunoglobulin levels
• complement system tests
• autoantibody tests
• targeted immunological serology
• imaging or other specialist examinations

Immunology laboratory tests can support a diagnosis, but a positive autoantibody result alone does not usually prove autoimmune disease. A negative result does not rule out every immunological condition either. Findings must always be read with symptoms, the physical examination and further tests.

How can autoimmune diseases be treated?

Treatment aims to calm abnormal immune activity, reduce inflammation, ease symptoms, prevent organ damage and keep the best possible quality of life.

Treatment depends on:

• the exact diagnosis
• which organs are involved
• how active and severe the disease is
• the patient’s age and general condition
• other illnesses and regular medicines
• how previous treatments worked and what side effects they had

Therapy may include:

• anti-inflammatory treatment
• corticosteroids
• medicines that modify immune function
• conventional immunosuppressive treatment
• biological or other targeted therapy
• organ-specific and symptomatic treatment
• physiotherapy, rehabilitation or lifestyle support

Not every autoimmune disease can be cured permanently, but appropriate treatment can often reduce activity, ease symptoms and prevent more serious complications. Doses should not be changed independently, and treatment should not be stopped suddenly.

Frequently asked questions

Are autoimmune diseases contagious?

No. They cannot be passed from one person to another. Certain infections may, in susceptible people, contribute to an autoimmune process starting or flaring.

Are autoimmune diseases inherited?

A tendency can run in families, but the disease itself is not usually passed on directly. A family history can raise risk, but it does not mean relatives will definitely develop it.

Does a positive ANA test mean autoimmune disease?

Not necessarily. A positive ANA result must always be read with symptoms and other tests. It is not enough on its own to make a diagnosis.

Can autoimmune diseases be cured?

It depends on the type. Many need long-term care, but with the right therapy long quiet periods and good quality of life are possible.

Do I need to come fasting for a blood test?

It depends on the laboratory tests requested. Some immunology tests do not need fasting, other additional tests do. Always follow the clinic’s or laboratory’s prior instructions.

The information here is for guidance only. It does not replace a medical examination, diagnosis or personalised specialist advice.