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Diagnosing Autoimmune Disease

Not all Autoimmune Diseases cause symptoms immediately. It is possible to live with an AID for many years before symptoms become apparent or before an incident occurs that leads to an AID diagnosis.

Although there are over 80 known autoimmune conditions (and a possible 40 additional conditions suspected of being autoimmune), accurately diagnosing an autoimmune disease (AID) can be difficult. Sometimes there is no one defining sign, symptom or test that can be used to provide a definite AID diagnosis.

The process of getting an AID diagnosed can be so long, drawn out and frustrating that it is not uncommon for people with AID to be labelled a hypochondriac – a person who fears they are living with a serious, undiagnosed medical condition despite diagnostic tests showing that there is nothing wrong with them – especially in the early stages of illness.

On average, a person will see 5 doctors over the course of several years to finally receive an autoimmune disease diagnosis.

Autoimmune Disease Symptoms

While different autoimmune diseases affect different organs and systems in the body, what they all have in common is that they occur when the body’s immune system mistakenly attacks its own cells.

Autoantibodies are immune proteins that target the body’s own healthy tissue when the immune system fails to distinguish between “self” and “non-self”.

The continual attack on the body’s cells causes inflammation and sufficient tissue damage that symptoms of disease begin to emerge.

People with an autoimmune disease may describe long-term struggles with a wide range of symptoms such as: fatigue, gastrointestinal issues, joint pain, recurring infections, skin problems, allergies, migraines, unexplained weight changes, anxiety/depression, low/high blood pressure and more.

Why does it take so long to get an autoimmune disease diagnosis?

  • Common, non-specific symptoms. The symptoms of autoimmune conditions vary widely and are generally non-specific, that is, symptoms that may describe any one of a variety of conditions. In the early stages of the illness people will usually present to their doctor or health professional for help with one, primary complaint (e.g., recurring urinary tract infection or persistent acne or inability to lose weight) and many of the other symptoms they are experiencing do not get mentioned. It is not until the practitioner has a full picture of ALL the symptoms, together with a full health history, that the connection between the symptoms becomes clearer, and that the possibility of an AID may become apparent.
  • Remission/flare pattern. It is possible for an AID to enter a period of remission, where a person may have very mild symptoms, or even be asymptomatic, for a period. At this time, for an undiagnosed person, it may seem that the illness has resolved and is all but forgotten about. However, when triggered, AID can enter a flare phase when symptoms return suddenly and severely leaving the sufferer exhausted, depleted and in pain.
  • Asymptomatic or slow to develop signs and symptoms. Not all Autoimmune Diseases cause symptoms immediately. It is possible to live with an AID for many years before symptoms become apparent or before an incident occurs that leads to an AID diagnosis. For example, ankylosing spondylitis symptoms may develop very gradually and often goes undiagnosed for several years, before it becomes visible on an x-ray. Likewise, Type 1 diabetes involves a gradual destruction of the pancreatic beta cells and it is only diagnosed once 90% of the cells have been destroyed.
  • Co-Conditions. It is possible to have more than one AID, in fact having one AID increases the chances of you developing another. When there is more than one AID present, it is possible for one to mask the other. For example you may have been diagnosed with Rheumatoid Arthritis, but in actual fact you also may have Coeliac Disease, the symptoms of which contribute to joint pain, but remains undiagnosed if there are no other obvious symptoms.
  • Every person is different and, with AID affecting a wide variety of organs and causing such varied symptoms, each presentation of each condition can be different. It is possible that two people may be diagnosed with the same condition with very different symptoms. Alternatively, two people with the same symptoms may be affected by different conditions.

Risk Factors for Autoimmune Disease.

Certain risk factors are known to increase the chances of developing an autoimmune disorder. The presence of any one of these risk factors, along with a description of all the symptoms, can help to get closer to an AID diagnosis.

  • Genetics. While members of the same family may suffer from different autoimmune conditions, a predisposition to autoimmune disease does appear to run in families.
  • Excess weight is associated with increased risk of developing an AID that affects the joints such as Rheumatoid and Psoriatic Arthritis. In addition, adipose tissue, or fat, secretes pro-inflammatory compounds that cause low-grade chronic inflammation and dysregulation of the immune system.
  • Smoking. The toxic chemicals that are released when tobacco is burned impacts the immune system by causing inflammation, suppressing immune function, and stimulating the production of autoantibodies.
  • Certain medications. The side effects of some pharmaceuticals that are widely used daily can have side effects that involve the immune system and can lead to an autoimmune reaction.
  • Infection with a virus, such as Epstein Barr Virus (EBV), or bacteria, such as Streptococcus, can turn on genes that impede the immune system’s ability to differentiate between self and non-self, initiating an autoimmune reaction.

Are there tests for Autoimmune Disease?

There is no single test to diagnose AID but rather a selection of markers in blood or urine samples which, when put together with the presenting symptoms can lead to an AID diagnosis.

  • Autoantibodies: The presence of autoantibodies may indicate an autoimmune disease.
    • Antinuclear Antibody (ANA) Test. A high level of these autoantibodies may be used to diagnose a systemic AID such as lupus and may be used to rule out other conditions with similar symptoms
    • Rheumatoid Factor (RF) is used to diagnose Rheumatoid Arthritis (RA). A positive test for RF differentiates RA from osteoarthritis and other connective tissue disorders.
    • Thyroid Antibody test (TPO) is used to diagnose Hashimoto’s or Graves disease in conjunction with other thyroid testing.
  • Inflammation Markers: C-Reactive Protein (CRP) and Erythrocyte Sedimentation Rate (ESR) are used to detect the presence of inflammation, a common characteristic symptom of all AID’s.
  • X-Rays, Gastroscopes and Biopsies: may be used to confirm or support an AID diagnosis.

Why do you need a diagnosis?

  • Many people suffer with symptoms for many years and finally having a diagnosis can be a validation that it was not just in their mind.
  • Knowing what is causing your symptoms allows your health practitioner to tailor a treatment plan specific to your needs.
  • Having a diagnosis means that your health care team can anticipate, and help to reduce the risk, of disease progression or future complications.
  • It helps you educate yourself and gain a better understanding about your condition and how to manage it.
  • It reminds you that you are not alone, and that you can reach out and connect with others with the same condition so that you may support one another.

You have been diagnosed with an autoimmune disease, so what now?

Once you receive an AID diagnosis, the treatment approach is up to you. As there is no proven cure for AID, treatment is aimed at improving symptoms and promoting remission.

One option is the conventional medicine approach which prescribes pharmaceutical medications to manage symptoms and induce remission.

The other option is the natural medicine approach which aims to determine the underlying cause of your AID and to tailor a treatment plan to improve your symptoms and reduce the frequency of flare-ups.

As a natural medicine practitioner Vicky works in conjunction with your medical team, using a holistic approach to managing AID that encompasses thorough testing, identification of nutritional deficiencies, lifestyle and dietary recommendations and stress management techniques.

If you have been struggling with a long-term, undiagnosed health issue, or if you have recently been diagnosed with an AID, book in for a complimentary Discovery Session with Vicky to discuss the best options for managing your health.