Dealing with Uncertainty in Your Lupus Diagnosis

Adapted from a presentation to the SLE Workshop at Hospital for Special Surgery

“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 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. The best doctors include uncertainty in their planning and make decisions with it 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.[1]

Why are there uncertain diagnoses in lupus?

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

  • You have too many symptoms or overlap diseases
    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 all together and a particular, unusual autoantibody. Other overlapping autoimmune illnesses are frequent, but they do not have either official or unofficial names. Frequently seen overlapping autoimmune illnesses are Hashimoto thyroiditis (underactive thyroid) or 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; and psoriasis. How common is overlap? In a Barbara Volcker Center for Women and Rheumatic Disease database that contains information on over 3,000 patients with a lupus-like disease, 37% had a second autoimmune disease, most often Hashimoto thyroiditis.

  • You have too few symptoms
    Patients who have too few symptoms have “pre-lupus,” “incomplete lupus,” ”evolving lupus,” or “forme fruste lupus” (the last is a French term that translates as incomplete or unfinished form). Doctors use these terms interchangeably — they do not mean different illnesses. These patients are ill, but do not have enough characteristic symptoms to make a clear diagnosis of lupus, RA or another autoimmune disease. Doctors say that these patients have undifferentiated connective tissue disease (UCTD).

  • You have abnormal blood tests, but no symptoms
    Sometimes a person who feels — and is — perfectly well is found to have an abnormal blood test. 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
    • not accept treatment for an illness that he or she does not have

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 and RA,  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 I met 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 their treatment will work, is usual.
  • In generational time we ask what the result of what we do today will be in twenty 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 disastrous side effects a decade from now. Do I want a better chance for cure today, perhaps at the cost of my fertility, or should I take my chances with a less powerful drug, but preserve my ability to have a child? Patients must ask questions and must say “no” if the doctor’s answer does not meet their own priorities. 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 withdrawal plan if a flare-up does occur.

Medical codes and criteria for lupus

Doctors use somewhat inflexible “criteria” to diagnose 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 patient’s question to their doctor should not be, “Do I have lupus?” but “Do you have a treatment plan?”

There are several kinds of criteria:

  • Diagnostic criteria lists the findings a patient must have to be diagnosed with lupus
  • Classification criteria lists only typical findings so that similar patients can be grouped in studies and treatment trials
  • Severity criteria indicates how bad lupus is at the time of measurement.
  • Damage criteria counts how much permanent damage has occurred to organs, such as kidney failure.
  • Treatment guidelines are criteria that instruct the doctor what treatment to use when a diagnosis is made.

Atypical forms of illness are not included in research studies. Insurance billing codes have no way of listing atypical patients. The above criteria work for “classical” diseases, but cannot work for atypical, overlapping, or forme fruste diseases, complicating a doctor’s ability to follow treatment guidelines, and impacting insurance approvals. Codes, indexes, criteria, and guidelines force doctors to make decisions appropriate for atypical patients. This is a problem in medicine that doctors are trying to correct.

Living with lupus uncertainty

When doctors and patients think about their goals, they use different timelines. Patients want to feel normal right now. Doctors think ahead 20, 30, even 40 years: Will the prescription I write today have side-effects that will make my patient’s life worse later on? These are topics that should be discussed between the patient and doctor.

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 for their goals.



Image - Photo of Michael D. Lockshin, MD
Michael D. Lockshin, MD
Attending Rheumatologist, Hospital for Special Surgery
Director, Barbara Volcker Center for Women and Rheumatic Disease

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