Dealing with Uncertainty in Your Lupus Diagnosis

“A rheumatologist is that doctor who lives most easily with uncertainty.” – Dr. Lockshin

If you believe the popular press and social media, most things in medicine are both solvable and known. This belief may be true for some acute illnesses (those that begin and end quickly), but for chronic illnesses (those that begin slowly and may not end), and especially for lupus, some degree of uncertainty is common.

Doctors include uncertainty in their planning and make decisions with that in mind. They discuss uncertainty and negotiate priorities with their patients. They make medical care a partnership. This article discusses how uncertainty occurs and how it should be managed.

Why are there uncertain diagnoses in lupus?

Although people think that the diagnoses of lupus, rheumatoid arthritis (RA), scleroderma, and other autoimmune conditions are plainly defined, often these diseases are not as clearly separated as one might think. Here are the three most common reasons for uncertainty in diagnosing lupus:

1. You have symptoms of multiple autoimmune conditions.
2. You have too few symptoms.
3. You have abnormal blood test results, but no symptoms.

Symptoms of multiple autoimmune conditions

About half of patients followed in a lupus clinic also have symptoms of rheumatoid arthritis, scleroderma, or dermatomyositis, a circumstance that doctors call “overlap disease.” The combination of rheumatoid arthritis and lupus overlap is so common that it has an unofficial name, not listed in textbooks: “rhupus.” Another overlapping illness is called (also unofficially) mixed connective tissue disease (MCTD). Patients with MCTD have symptoms of lupus, scleroderma, and dermatomyositis and a particular autoantibody on blood testing.

Other overlapping autoimmune illnesses are frequent, but they do not have either official or unofficial names. Autoimmune conditions that frequently overlap include:

• Hashimoto’s disease (also known as Hashimoto’s thyroiditis or chronic lymphocytic
  thyroiditis), which is an underactive thyroid).
• Graves' disease (overactive thyroid).
• Inflammatory bowel diseases (Crohn’s, ulcerative colitis and celiac disease).
• Neurologic autoimmune diseases (multiple sclerosis and myaesthenia gravis).
• Type 1 diabetes.
• Psoriasis.

How common is overlap disease? In a Barbara Volcker Center for Women and Rheumatic Disease database that contains information on over 3,000 patients with a lupus-like disease seen between 2002 and 2015, 37% had a second autoimmune disease, most often Hashimoto thyroiditis.

Too few symptoms

Classification criteria have been developed to identify patients with lupus for the purpose of research studies, and these criteria also often are used for clinical purposes. Patients who have fewer symptoms than required to meet classification criteria are said to have “pre-lupus,” “incomplete lupus,” “evolving lupus,” forme fruste lupus (a French term that translates as “incomplete or unfinished form”), or undifferentiated connective tissue disease (UCTD). Doctors often use these terms interchangeably. These patients are ill, but do not have enough characteristic symptoms to make a clear diagnosis of lupus (or another autoimmune condition such as RA).

Abnormal blood test results, but no symptoms

Sometimes a person who feels – and is –well is found to have a blood test that falls out of range. Most of these people do not have a diagnosis and need no treatment. The blood tests tell the doctor to stay alert for unusual new symptoms. The patient should be aware of continuing symptoms and potentially new ones, not repeat tests without reason, With lupus, a diagnosis is not always “yes” or “no.” Lupus and lupus-like illnesses lie on a spectrum from antibody only to UCTD to typical lupus to overlap disease. The name for the diagnosis is less important than whether it needs treatment, and, if so, how and when.

How does lupus change over time?

In an acute illness, like appendicitis or pneumonia, symptoms start quickly, treatment results are quickly known, and, when it is over, no further treatment is required. Results of treatment trials for acute illnesses are definitive and certain. In chronic illnesses like lupus the following may occur:

• Symptoms come and go for months or years before a diagnosis is certain.
• Laboratory tests may change over the course of treatment.
• You may not know for months whether a prescribed treatment works; it may not work, and it may be necessary to try another medication.
• The illness changes from day to day: in treatment trials spontaneous remissions make it difficult to be certain that the treatment worked until the trial has been repeated several times.
• Your diagnosis may change over time.

Here is an example: A patient treated by Dr. Lockshin in the late 1970s had unequivocal, very severe lupus. She went into full remission, had several successful pregnancies, and stayed well. In the early 2000s she developed a clear diagnosis of RA – typical symptoms and laboratory findings – and no signs of lupus at all. She went into remission again. In 2016 laboratory signs of lupus returned. The lesson is that the body does not care which names doctors give to diagnoses; the illness will do what it will do. Doctors and patients must be open to the idea that the diagnosis named a decade ago may have a different name today.

When doctors think of chronic illness, they have to consider four categories of time.

• In instant time, recognition of the problem (such as a fracture or a seizure) and its treatment must happen immediately.
• In clock time (cough or fever), symptoms can be watched for a few hours or days before treatment begins. It may get better on its own or a laboratory result will tell the doctor what to prescribe.
• In calendar time (lupus), observation for months or testing to see if treatment will work, is typical. Some lupus symptoms may respond more quickly to treatment.
• In generational time we ask what the result of what we do today will be in 20 or 30 years.

Doctors and patients must plan for all time frames at every doctor visit. Patients must tell the doctor their priorities. A medicine that works very quickly may have undesired side effects a decade from now. Patients must ask questions and dialogue with doctors to ensure that their priorities are recognized. The patient makes the final decision.

When will I have a flare-up? Lupus is often unpredictable. While doctors do know something about what causes flare-ups – heavy sun exposure or allergic reactions to drugs – they cannot predict most flare-ups. Perhaps the best way for patients doing well to cope with the idea of flare-up is to live their lives normally, but always have a plan if a flare-up does occur.

Medical codes and criteria for lupus

As noted above, doctors often apply classification criteria developed for research purposes to make a clinical diagnosis of lupus. Those criteria describe typical lupus, not lupus diagnosed by rare symptoms. Patients can still have lupus, even if they do not meet criteria. Whether or not symptoms fit criteria the doctor can still act. The priority is to develop a treatment plan even if a firm diagnosis of lupus cannot be made. In addition, different sets of criteria have been developed to describe lupus disease activity and organ damage due to lupus.

Atypical forms of illness are not included in research studies. Insurance billing codes have no way of listing patients with atypical symptoms. Existing criteria work for “classical” diseases, but may work less well for atypical, overlapping, or forme fruste diseases, complicating a doctor’s ability to follow treatment guidelines and potentially impacting insurance approvals for therapies. Studies of undifferentiated autoimmune conditions are currently underway.

Living with lupus uncertainty

Although decisions for lupus involve uncertainty, uncertainty is not a cause for frustration or despair. Rather, it is a call for open-mindedness – on the parts of both the doctor and the patient – to the possibilities that may emerge. Uncertainty is an opportunity for patients to partner with their doctors in reaching their goals.

Learn more information about the SLE Workshop at HSS, a free support and education group held monthly for people with lupus and their families and friends.

Updated: 7/27/2022

Authors

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References

• Lockshin MD, Crow MK, Barbhaiya M. When a Diagnosis Has No Name: Uncertainty and Opportunity. ACR Open Rheumatol. 2022 Mar;4(3):197-201. doi: 10.1002/acr2.11368. Epub 2021 Nov 21. PMID: 34806330; PMCID: PMC8916551. 
• Lockshin MD, Crow MK, Barbhaiya M. Diagnoses Without Names Challenges for Medical Care, Research, and Policy  Springer Nature: Cham, Switzerland. ISBN 978-3-031-04934-7 ISBN 978-3-031-04935-4 (eBook) https://doi.org/10.1007/978-3-031-04935-4.
• Jia L, Levine AB, Lockshin MD. American College of Rheumatology Criteria for Systemic Lupus Erythematosus Exclude Half of All Systemic Lupus Erythematosus Patients. Arthritis Rheumatol. 2017 Jul;69(7):1502-1503. doi: 10.1002/art.40120. Epub 2017 May 10. PMID: 28388814.

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