Do you think you may have lupus?  Understanding the complex, multi-step process of getting a lupus diagnosis is one of the most common questions we get and there is no easy answer. The goal of this blog is to describe the most common aspects of the diagnosis process so that you can approach your healthcare practitioner armed with the information you need.

• Introduction
• Preparing for Your Office Visit
• How is a lupus diagnosis confirmed?
• Some Questions to Ask After a Lupus Diagnosis
• In Conclusion

Introduction

Lupus is an incredibly complex autoimmune disease and diagnosing it can take a lot of time and many doctor visits. In order to make such a diagnosis, the individual must first show clinical evidence of a multi-symptom disease (i.e., the individual has shown abnormalities in several different organ systems).

Additionally, patients will often get diagnosed with other overlap diseases such as rheumatoid arthritis (RA), Sjogren’s syndrome, scleroderma, fibromyalgia or Raynaud’s Phenomenon – even before a diagnosis of lupus is made. This can be incredibly frustrating for you as well as your healthcare practitioner because several conditions can present very similar symptoms.

To learn more about the symptoms that can be specific to lupus, please read “The Symptoms of Lupus.” There you can find an excellent graphics showing the parts of the body where lupus can present itself – along with other helpful information.   If you have identified several of the signs for lupus, you and your healthcare practitioner can take the next steps in determining if it is lupus or another auto-immune disease.

Very Important Information

Before beginning the process, it is important to understand that there is no one, single test that can determine a lupus diagnosis on its own.  Several tests are required.  Even if you get a positive result from any one test, that does not necessarily mean that you have lupus, nor does a negative test result mean that you do not have lupus.  Individual test results can also vary from one visit to another, which can be very frustrating.

Because of this, we encourage you to be proactive about understanding the various tests, what they indicate and how to best discuss the entire range of tests with your healthcare practitioner.  A list of many of these tests can be found below.

Just remember, that your healthcare practitioner needs to take into consideration a combination of factors as well as the test results when diagnosing lupus.

That said, if you are not satisfied with the results or are uncomfortable with your healthcare practitioner for any reason, please seek a second opinion. You are your own best advocate! 

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Preparing for the Office Visit 

Because lupus is so complicated and can affect people very differently, it is important to see a healthcare practitioner who specialized in the treatment of lupus, for most individuals with lupus, a rheumatologist will be their primary practitioner.

A rheumatologist diagnoses (detects), treats and medically manages patients with complex rheumatic diseases – those that largely feature inflammation from autoimmune causes. These health problems affect almost any part of the body, though most commonly the joints, muscles, bones and sometimes other internal organs (e.g., kidneys, lungs, blood vessels, brain).  Find a referral network to help you identify rheumatologists in your area.  Local support groups can be good resources for this information.  It is not uncommon to visit a number of rheumatologists before you find one that is best for you.

Tips to prepare for your first visit:

• Write down a complete list of your symptoms, and be as specific as possible.
• Write down any significant life changes or sources of stress that may have affected your health.
• Write a list of medications you are taking, and have taken in the past.
• List any diseases or conditions you are suffering from, or have suffered from in the past.

How is a lupus diagnosis confirmed?

Because lupus can mimic several other illnesses, a diagnosis will usually take into consideration several factors:

• The individual’s entire medical history.
• Signs and symptoms  –  Again, it is very important to keep detailed records of your symptoms.
• Physical examination findings.
• An analysis of the results from routine laboratory tests (see below).
• Analysis of specialized tests related to immune status (see below).

For years, clinicians have used 11 criteria for classifying a possible systemic lupus diagnosis. The presence of at least four (4) of these criteria coul lead to a possible lupus diagnosis.

1. Malar rash: butterfly-shaped rash across cheeks and nose.
2. Discoid (skin) rash: raised red patches.
3. Photosensitivity: skin rash as result of unusual reaction to sunlight.
4. Mouth or nose ulcers: usually painless.
5. Arthritis (nonerosive): in two or more joints, along with tenderness, swelling, or effusion. With nonerosive arthritis, the bones around joints don’t get destroyed.
6. Cardio-pulmonary involvement: inflammation of the lining around the heart (pericarditis) and/or lungs (pleuritis).
7. Neurologic disorder: seizures and/or psychosis.
8. Renal (kidney) disorder: excessive protein in the urine, or cellular casts in a urinalysis.
9. Hematologic (blood) disorder: hemolytic anemia, low white blood cell count, or low platelet count.
10. Immunologic disorder: the presence of antibodies to double-stranded DNA (anti-dsDNA), antibodies to Sm nuclear antigen (anti-Sm), or antibodies to cardiolipin.
11. Antinuclear antibodies (ANA): a positive test in the absence of drugs known to induce it. However, a positive ANA test does not necessarily mean you have lupus.

Then, change happens in 2020:

The American College of Rheumatology (ACR) made a detailed study of the challenges clinicians face in diagnosing lupus.  Subsequently, the ACR no longer endorses an official set of diagnostic criteria for lupus!  Instead, in 2020 and in partnership with the European League Against Rheumatism (EULAR),  they produced a detailed classification system to help guide the medical response of healthcare providers and rheumatologists whether they make diagnoses or not.  This system defines the criteria that clinicians around the world can then use in describing lupus symptoms and suggesting the best possible treatment options.  A detailed description of these criteria can be found in the KFL blog-article, “New Protocol for Diagnosing Lupus.”

 

The following are descriptions of the tests used in making a lupus diagnosis:

Blood Tests

If your healthcare practitioner has suspicions that you could be suffering from lupus, or another autoimmune disease, they will most likely order several blood tests. Some of these tests may include:

• Antinuclear Antibody Test (ANA):  This test measures the amount of antibodies that specifically target the nuclei of your body’s cells.  These can be found in several autoimmune conditions, including lupus.

About 98% of those with lupus, will test positive for ANAs, so it is considered a very “sensitive” test.  However, on average, from 5% to 10% of the healthy population will also have measurable levels of ANAs – so, it not considered highly “specific” and that means it is not proof of having lupus.  Simply stated, while most people with lupus have a positive ANA test, most people with a positive ANA test do not have lupus.  If you have a positive ANA test, more specific antibody testing will most likely be advised.

• • Anti-dsDNA test: This is a more targeted kind of ANA test that measures antibodies specifically against the double-stranded DNA that makes up the genetic code of every cell in the body.  This test is very specific for lupus, and can be used to determine a lupus diagnosis when regular ANA tests do not. About one in every two people with lupus has a positive anti-dsDNA test.  Also, the presence of this anti-dsDNA can indicate a higher risk of lupus nephritis, the kidney inflammation that can occur with lupus. So, this test can confirm the need to closely monitor the kidneys.

• EliA Rib-P blood Test:  The latest blood test, approved by the FDA in 2022, targets something called ribosomal P protein.  It is highly specific for SLE, which means that that very few people without lupus will show a positive test, and so can be helpful for those whose ANA tests are inconclusive.  Also, it has been shown to be an indicator for lupus in younger patients and is indicative of severe disease, the presence of neuropsychiatric episodes, kidney disease, and liver disorders.  So, it may be a test worth taking during the process of diagnosis.

Other blood tests that can support a lupus diagnosis or identify associated conditions:

• Complete Blood Count (CBC):  This test measures the number and ratios of red blood cells (RBCs), white blood cells (WBC), and platelets as well as the amount of hemoglobin in the blood.  Results from this test can indicate anemia, or a low white blood cell or platelet count which both often occur in conjunction with lupus.
• Chemistry Panel:  This is a test to assess kidney and liver function. Information on blood sugar, electrolytes, cholesterol and triglyceride levels will also be assessed.  Abnormalities could indicate the development of complications from lupus on vital organs.
• Serum Protein Electrophoresis Test:  This is a test used to reveal increased gamma globulin and decreased albumin in the blood.
• C-Reactive Protein (CRP):  This protein can be a marker of inflammation which is common in lupus and other autoimmune diseases.
• Complement:  Complement proteins are involved in inflammation. These levels are usually low in patients with active disease, especially kidney disease. A low complement is not, in itself, a diagnostic of lupus but must be taken in the context of other clinical findings.
• Erythrocyte Sedimentation Rate:  This is a blood test that is used to determine the rate at which red blood cells settle to the bottom of a tube in one hour’s time.  If the rate is faster than normal, it may be an indication of a systemic disease, like lupus.  It is important to note that this sedimentation rate, or rate of settling, does not specifically indicate lupus, but can be elevated if other inflammatory conditions are present like cancer or an infection.
• Kidney and Liver Assessment:  Because lupus can affect these organs, blood tests will be done to see how well they are functioning.
• Urinalysis: An increased protein level or red blood cells in the urine can occur in lupus if it has affected your kidneys.  Some form of kidney damage is seen in roughly 50% of those living with lupus.  If your primary care physician or rheumatologist believes that you are at risk for lupus nephritis
• Antiphospholipid Antibodies (APLs): Antiphospholipid antibodies are a group of chemicals that attack certain aspects of normal cell membranes – they are an expression of autoimmunity.  They are present in approximately one out of every two people with lupus.  A positive test can help confirm diagnosis as well as help identify women with lupus who have certain risks (like blood clots and miscarriage) that would require preventative treatment and monitoring. Note that the presence of phospholipids also occurs in people without lupus and therefore, their presence alone is not enough for a lupus diagnosis.

Again, we must remind you that just because you test negative today, it does not mean that you won’t test positive tomorrow.

Imaging Tests

If your healthcare practitioner has suspicions that your heart or lungs have been affected by lupus, they may advise for specific imaging tests in diagnosing lupus:

• Chest X-Ray:  Abnormal shadows in a chest x-ray may be an indication of fluid or inflammation in your lungs.
• Echocardiogram:  Sound waves used in this test produce images of your beating heart in real time. It can suggest problems with valves and other parts of your heart.

Biopsy

It is very common for lupus to affect the kidneys.  In some cases, testing a small sample (biopsy) of the kidney tissue will help determine the best treatment and course of action to be taken. A needle or small incision is usually used to obtain this sample.

This is a particularly invasive form of testing, and because of that, there is a great deal of medical research going into developing blood and urine tests that could give good accurate enough results so that there might be less of a need for kidney biopsies.

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Some Questions to Ask After a Lupus Diagnosis

Once a lupus diagnosis has been confirmed by your healthcare practitioner, you will have many questions.  Here is a quick list of questions to help you get started towards the most successful course of treatment and/or management of the disease. It may also be helpful to have an advocate or ally along with you like a friend or loved one to help you remember important details or questions that you might forget to ask:

• How can I help control my symptoms?
• How will lupus affect my body?
• Has the disease affected or damaged my kidneys or other vital organs?
• Would it be safe for me to become pregnant?
• What are my treatment options, medications? What are the side effects?
• Are there any practitioners you can recommend who specialize in treating lupus?
• How often should I have checkups?
• Are there any alternative treatments for lupus?

 

One last point about diagnostic tests  …  This is one aspect of research that is changing rapidly.  In the short term, the “traditional” tests for ANA’s, double-stranded DNA and complement activation may remain the primary techniques for lupus diagnoses.  However, they are very limited in how well they measure damage and effects on specific organs and organ systems.  What is likely to change is the addition batteries of tests that allow healthcare providers a way of making a wide range of assessments using more focused genetic testing and more blood and urine biomarkers.  As mentioned above, for example, research has found specific proteins in urine samples that may one day accurately diagnose lupus nephritis without the need for kidney biopsies.

Tests like this could revolutionize not just the diagnosis, but ongoing treatment of lupus.  They could allow a more comprehensive and individualized picture of each person’s SLE.  In that way, testing and diagnosis will hopefully reflect better, the uniqueness of the patients they hope to help!

 

In Conclusion:

You are not alone. It can be very scary to receive a lupus diagnosis, have your life disrupted and cause you to become uncertain about the future. The good news is that strides are continually being made in the discovery of better diagnostic tools and more effective medications. With the combination of correct treatments, medications, and living a healthy lifestyle, many people with lupus can look forward to a leading a long and productive life.

We encourage you to reach out to friends, family, and join support groups to share your feelings and fears.  Also, remember to be your own best advocate in your journey with lupus, take great notes, and bring a support person with you to each visit to help remind you of your healthcare practitioner’s advice and information. We are always here for you, please join our online community and share your story or ask us any questions you may have!

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References

Lupus. (n.d.). Retrieved from https://www.rheumatology.org/I-Am-A/Patient-Caregiver/Diseases-Conditions/Lupus

Lupus: Diagnosis and treatment. (n.d.). Retrieved from https://www.mayoclinic.org/diseases-conditions/lupus/diagnosis-treatment/drc-20365790

Putterman, C. (2019). The status of diagnostic and monitoring tests in SLE – present and future. Retrieved from https://www.medpagetoday.com/meetingcoverage/acrsota/79133

 

Author: The Kaleidoscope Fighting Lupus Team (updated 2022)

All images unless otherwise noted are property of and were created by Kaleidoscope Fighting Lupus. To use one of these images, please contact us at [email protected] for written permission; image credit and link-back must be given to Kaleidoscope Fighting Lupus.

All resources provided by us are for informational purposes only and should be used as a guide or for supplemental information, not to replace the advice of a medical professional. The personal views expressed here do not necessarily encompass the views of the organization, but the information has been vetted as a relevant resource. We encourage you to be your strongest advocate and always contact your healthcare practitioner with any specific questions or concerns.