Lupus is an autoimmune disease that affects around 1.5 million Americans, and yet it remains frequently misdiagnosed or undiagnosed. There are several key reasons why lupus can be difficult to diagnose accurately:
The wide variety of symptoms
Lupus has a vast array of symptoms that can affect many different parts of the body. Common symptoms include fatigue, joint pain or swelling, rashes, fever, swollen lymph nodes, and issues with the kidneys, heart, or lungs. However, the specific symptoms can be different for every patient and they tend to come and go in “flares.” This unpredictable and varied range of possible symptoms makes lupus easy to mistake for other conditions.
Overlap with other diseases
The symptoms of lupus often overlap with those of other diseases. For example, joint pain, rashes, and fatigue occur in many different conditions. As a result, lupus symptoms get mistaken for rheumatoid arthritis, fibromyalgia, rosacea, thyroid disorders, Lyme disease, skin conditions, viral illnesses, and more. There is no single symptom that is unique to lupus, so it may not initially seem like the obvious diagnosis.
More common in women
Around 90% of people diagnosed with lupus are women. Many other autoimmune diseases also primarily affect women. As a result, some doctors can miss diagnosing lupus in men simply because they do not expect to see the condition in male patients.
Can take time to develop
The symptoms of lupus generally develop slowly over weeks, months or years. Often there is no single dramatic onset. Doctors can overlook subtle symptoms early on or dismiss them one by one until the condition has progressed further. Patients may only recognize how multiple symptoms fit together once the condition is more advanced.
Blood tests can be misleading
Doctors typically run blood tests for antinuclear antibodies (ANA) and double-stranded DNA (dsDNA) antibodies when lupus is suspected. However, around 15% of patients who are later diagnosed with lupus will initially test negative on these blood tests. Relying too heavily on ANA and dsDNA testing can lead to cases of lupus being missed or delayed.
Kidney problems are common
Most lupus patients will experience kidney problems at some point. However, in around half of lupus patients, these issues only arise years after their initial diagnosis. Doctors who rule out lupus early on because of a lack of apparent kidney problems may fail to recognize that these can still develop down the line.
Skin issues are variable
Between 75-85% of lupus patients will have some type of skin rash or reaction at some point. However, the look of these rashes can vary significantly. Typical lupus rashes include the “butterfly” rash across the cheeks, painful sores in the mouth or nose, and red fingers swelling with color loss at the tips. Skin issues can also come and go over time. Not all doctors are aware of the range skin conditions related to lupus.
Racial disparities in diagnosis
Lupus occurs three times more often in African American women compared to Caucasian women. The reasons for this racial disparity are not fully understood. However, some research suggests doctors are slower to suspect and test for lupus in minorities. Studies indicate non-white patients also face longer diagnostic delays once they seek medical help for their symptoms.
Doctor unfamiliarity with the disease
Many doctors lack extensive direct experience diagnosing and treating lupus. Unless they specialize in rheumatology or immunology, lupus may not be something they commonly see in their patients. Without adequate training and knowledge of the condition, key symptoms can be misunderstood or attributed to more common conditions.
No single, definitive test
There is no single blood test or diagnostic that can definitively diagnose lupus. Doctors must rely on a thorough clinical examination, observation of symptoms, and understanding the subtle signs to put together the diagnosis. For doctors with less experience of lupus, there can be uncertainty around when enough evidence is present to confirm the disease.
The unpredictable flare-ups
A defining feature of lupus is flare-ups where symptoms suddenly worsen before easing off again. However, there is no set pattern to when these flares will occur. The flares do not necessarily happen when patients are under stress or follow other typical triggers. Their random and unpredictable nature can confuse doctors trying to discern if symptoms are part of lupus or due to other ailments.
Mimics other heart and lung diseases
Inflammation from lupus can cause chest pain, shortness of breath, and heart palpitations. These symptoms understandably raise concerns for pneumonia, bronchitis, heart attacks or cardiac arrest. However, in patients who already have lupus, these problems are usually rare, mild forms of inflammation that are not life-threatening like other heart and lung conditions. Yet, ER doctors and primary care providers not specialized in lupus may mistake these symptoms for more serious issues.
Patients lack credibility
The difficulty getting an accurate lupus diagnosis is frustrating for patients. They are forced to endure ongoing medical appointments and tests. After multiple doctors dismiss their concerns, patients can seem less credible. Some medical professionals then take their reports of lingering symptoms less seriously, making the road to diagnosis even harder.
Few diagnostic advancements
Unlike many diseases, there has been little advancement around lupus diagnostics in decades. Doctors must rely on thorough history taking, physical exams, and conventional blood tests. Without any major technical leaps, it remains challenging to definitively rule lupus in or out.
Patients downplay their symptoms
Many lupus patients try to ignore or downplay their symptoms at first. They do not want to seem like complainers or be viewed as “hypochondriacs.” Also, symptoms like fatigue and muscle aches seem like something that should just be tolerated. Consequently, patients may not paint an accurate picture of their condition early on during medical visits, misleading doctors.
The waxing and waning nature
Lupus causes symptoms that come and go over weeks or months. Patients may have a period of intense fatigue then feel better for a time then have a flare up. This waxing and waning nature means patients, and doctors, can attribute the symptoms to other causes like a temporary virus rather than connecting them to an overall condition.
Difficulty distinguishing lupus subtypes
There are several different subtypes of lupus which can vary in severity. Discoid lupus causes skin sores, subacute cutaneous lupus causes non-scarring skin lesions, drug-induced lupus arises from certain medications, and neonatal lupus affects infants. Diagnosing the subtype correctly lets doctors tailor their treatments but can be challenging early on.
Patients lack health insurance
Seeing multiple doctors and specialists for all the testing required to diagnosis lupus correctly takes time and money. For uninsured patients or those with limited coverage, this process can be difficult to access or afford. Without conducting a full gamut of tests over multiple visits, some cases of lupus may go undiagnosed.
Doctors over-rely on risky treatments
Some medications used to treat lupus, like steroids, have significant side effects. Doctors may hesitate at labeling a patient with lupus and putting them on these long-term treatments unless they are very certain of the diagnosis. Their indecision however delays patients getting relief from their symptoms.
Lack of patient data sharing
Patients frequently see an array of doctors including rheumatologists, dermatologists, nephrologists, primary care providers, ER doctors and more. However, there is often limited sharing of patient history and test results between these practitioners. Without the full picture, it is easy for individual physicians to miss the pattern of symptoms signaling lupus.
Overreliance on rheumatologists
Many doctors assume only a rheumatologist specialized in autoimmune disorders can definitively diagnosis lupus. They refrain from attaching this label to patients until they see the specialist, even when lupus seems likely. This pushes patients into a referral process that slows down diagnosis and delays possible treatments.
How the Diagnosis Can Be Expedited
There are several steps doctors can take to help improve the speed and accuracy of diagnosing lupus:
- Take a very thorough history of the patient’s symptoms and when they began
- Ask about family history of autoimmune disease
- Examine for less obvious symptoms like oral ulcers or lung inflammation
- Conduct repeated ANA and dsDNA tests over several weeks if initial results are negative
- Check for markers of kidney disease
- Refer to a rheumatologist promptly if lupus seems possible
- Review previous patient records for clues
- Follow-up on any unexplained symptoms
- Avoid dismissing credible patient concerns
- Consider rare presentations like lupus in male patients
The Outlook for Earlier Lupus Diagnoses
Progress is being made to improve lupus diagnostic rates, including:
- Increased availability of electronic medical records improves access to patient histories
- Growth of telehealth makes specialist referrals more accessible
- New lupus biomarkers are being identified through research
- Online education is spreading awareness of the condition
- Support groups help patients advocate for proper testing
- Efforts to reduce racial disparities in healthcare
- Creation of diagnostic criteria tailored to men with lupus
Lupus often goes undiagnosed due to its range of symptoms, flare-ups, unclear test results, and difficulty distinguishing it from other conditions. But increased awareness and improved access to specialists should steadily reduce misdiagnosis rates. Patients can also help by keeping detailed symptom journals, being their own advocates, and seeking second opinions when needed.