Some individuals experience symptoms indicative of lupus, yet they don’t fully meet the established criteria for a formal lupus diagnosis. This situation has been described using various terms, including what was formerly known as borderline lupus. Other terms that may be used are incomplete lupus, pre-lupus, forme fruste lupus, evolving lupus, undifferentiated connective tissue disease, and latent lupus. Often, healthcare professionals use these terms interchangeably to characterize the same condition, and these terms are also found in discussions within communities like MyLupusTeam.
If your rheumatologist has used any of these terms when discussing your health, it’s essential to understand their implications. This article will provide key information about this type of diagnosis, empowering you to make informed decisions about your health and care.
Lupus Diagnosis: A Detailed Look
To fully grasp the concept of borderline or incomplete lupus, it’s helpful to first understand the process of diagnosing lupus itself. It’s a complex procedure, and the diagnostic criteria have been revised several times since 1982.
A definitive lupus diagnosis requires the presence of multiple symptoms affecting various parts of the body, including different organ systems. Initially, a blood test must reveal elevated levels of specific antibodies known as antinuclear antibodies (ANAs). A positive ANA test result is a prerequisite for considering a lupus diagnosis. A negative result typically rules out lupus. If the ANA test is positive, further investigation for other symptoms is initiated. Each identified symptom is assigned a specific point value. If the cumulative score reaches 10 or more, a diagnosis of lupus may be considered.
The diagnostic process is intricate. Symptoms are categorized based on the organs or systems they impact, and meeting the criteria for diagnosis necessitates having at least one symptom from certain categories.
In most cases, doctors need to conduct a range of laboratory and imaging tests to identify these diverse symptoms. These tests can include:
- Multiple blood tests to assess various markers
- Skin biopsies to examine tissue samples
- Kidney function tests
- Chest X-rays
- Ultrasound of the heart or abdomen to detect serositis (inflammation of organ linings)
- Urine samples for analysis
This comprehensive evaluation can take time. Consistent follow-up is crucial to determine if you meet the criteria for a lupus diagnosis and to understand how the condition might be affecting your body.
Understanding Incomplete Lupus
If you present with some symptoms aligning with lupus criteria, but not enough to warrant a full lupus diagnosis, your rheumatologist might describe it as incomplete lupus or use one of the related terms mentioned earlier.
Historically, these terms were used for individuals believed to be in the early stages of a connective tissue disease. Connective tissue diseases affect the tissues that support and connect different parts of the body, such as joints, skin, and organs. The initial thought was that these individuals were likely to progress and develop a defined autoimmune disease, where the immune system mistakenly attacks healthy cells, including connective tissues.
However, medical observations revealed that many individuals with these symptoms didn’t neatly fit into established disease categories. They did not develop into classic lupus, rheumatoid arthritis, or other connective tissue diseases with clear, distinct symptom patterns.
Furthermore, doctors noticed unusual symptom combinations in these patients. Some symptoms were consistent with lupus, while others resembled different connective tissue diseases. These observations have led some healthcare professionals to consider undifferentiated connective tissue disease (UCTD) as a distinct condition in itself, at least for certain individuals.
It’s estimated that up to 25 percent of individuals presenting with connective tissue disease symptoms receive a diagnosis of undifferentiated connective tissue disease. This diagnosis doesn’t indicate a lack of medical understanding. Instead, it signifies that the person’s symptoms do not precisely align with the criteria for a specific, well-defined condition like lupus.
Progression from Undifferentiated to Classical Lupus
While some individuals maintain an incomplete or undifferentiated diagnosis long-term, others may develop further symptoms that lead to a more specific diagnosis. In these cases, the diagnosis may evolve into systemic lupus erythematosus (SLE) or another specific connective tissue disease.
Experiences shared within the MyLupusTeam community illustrate this progression. One member recounted, “On Friday, I finally got a diagnosis of lupus. I have been borderline for two years and have probably had it since I was in my 40s.”
Conversely, many others do not progress to a lupus diagnosis. One member shared, “I have had borderline lupus for over 30 years,” and another added, “I have had borderline lupus for almost 50 years.”
Certain factors might elevate the likelihood of developing SLE following an undifferentiated diagnosis. However, it’s important to recognize that the predictive value of these factors is still under investigation and may not be definitively useful for doctors at present. Current data is limited, and further research is needed to solidify the link between these factors and disease progression.
Risk Factors for Lupus Development
Research is ongoing to identify factors that might predict the progression from borderline lupus to a more definitive lupus diagnosis like SLE. Some potential risk factors are emerging:
Younger Age at Diagnosis
One potential risk factor is being diagnosed with an undifferentiated connective tissue disease at a younger age. While current research doesn’t pinpoint a specific age threshold, studies suggest that a younger age at the time of the initial diagnosis might increase the risk of progressing to SLE.
Serositis
Serositis, inflammation of the tissues lining organs and body cavities, is another identified risk factor. Individuals with serositis appear to have a higher likelihood of developing SLE compared to those without this symptom.
Specific Antibodies
Research indicates that the presence of a specific antibody, anti-double stranded DNA antibody (anti-dsDNA), may help predict which individuals with an unclear diagnosis are more likely to develop SLE. While other antibodies, such as anti-Smith antibody (anti-Sm) or anti-Ro, might also suggest a higher risk of SLE, their predictive certainty is lower than that of anti-dsDNA.
Other Potential Factors
Factors with less conclusive evidence linking them to disease progression include kidney disease, butterfly rash (malar rash), photosensitivity (sensitivity to light), and alopecia (hair loss). More research is needed to fully understand how these factors contribute to predicting the progression to a confirmed lupus diagnosis.
Communicating with Your Doctor
If you have received a diagnosis of undifferentiated connective tissue disease, evolving lupus, or a similar condition, it’s crucial to have an open conversation with your rheumatologist to understand what it specifically means for you. Don’t hesitate to ask what steps are needed for a potential lupus diagnosis or to clarify which symptoms were and were not observed in your test results.
These discussions are invaluable for gaining a deeper understanding of your body and your health. They also empower you to receive the most appropriate treatment tailored to your specific needs. Remember, your rheumatology team should focus on helping you improve your well-being, even if your current symptoms do not meet the criteria for a lupus diagnosis. Effective treatments are available to enhance your quality of life and overall sense of well-being.
Finding Support and Community
Living with uncertain symptoms can be challenging. Connecting with others who understand can make a significant difference. Online communities like MyLupusTeam provide a valuable platform to connect with over 235,000 members, ask questions, share experiences, and find support from people who understand the complexities of living with lupus and related conditions.
If you are experiencing lupus-like symptoms but haven’t received a definitive diagnosis, know that you are not alone. Sharing your experiences, asking questions, and connecting with others can be incredibly helpful as you navigate your health journey.
