How do doctors diagnose lupus

Episodes run to a similar formula – a patient presents with an unusual set of symptoms and the team must solve the case before it proves fatal.

Occasionally, the those in the team run out of credible diagnoses and in their exasperation start to suggest more far-fetched conditions. Quite frequently, someone pipes up with “Maybe it’s lupus”.

Generally, House will give them a scornful look and reply “It’s not lupus”.

So why is it never lupus? Is it because its symptoms make it easily mistaken for other illnesses or the difficulty of making a diagnosis? Yes and yes but surely this can’t stand in the way of Dr House’s abilities.

Maybe lupus is invoked because it doesn’t have the option of a miracle cure at the end of the episode. At any rate, the show’s authors will soon have to coin a new meme because there’s now a new treatment for lupus.

Anatomy of a disease

Lupus, generically referred to as SLE for Systemic Lupus Erythematosus, is an autoimmune inflammatory disease affecting about five million people worldwide.

An autoimmune illness is one in which the immune system attacks the body, destroying healthy tissues.

In the case of lupus, any part of the body may be attacked. The irony of lupus is that the sufferer’s own “anti-sickness” system becomes the actual cause of illness.

Lupus has numerous causes but affects mainly women (9 women for every man) during child-bearing years – usually between 20 and 40.

Its prevalence is variable from one country to another, ranging from 15 to 50 cases for every 100 000 people.

Lupus patients often suffer unpredictable bouts of the disease, called flares, followed by periods of remission.

Of the two forms of lupus, the relatively benign and the more frequent one involves skin rashes – appearing mainly on the face and scalp – and joints, especially in the small joints of the hands and in the knees.

The second more rare and severe form affects internal organs, most often harming kidneys, heart, lungs, blood vessels and the brain.

SLE can be fatal, but its prognosis, which depends on the degree and nature of organ involvement – resulting in renal and vascular damage – has dramatically changed in the past 50 years.

Indeed, the five-year survival rate, which was less than half the number of sufferers in 1955, is currently over 90%. However, the death rate among lupus patients remains four times higher than the general population of the same age.

The two leading causes of death are kidney damage and infections in the first five years, and vascular damage and infectious complications after that.

Hidden grain of truth

The most likely reason for lupus being used as a joke in House is because of the difficulty in delivering a diagnosis of the disease.

Initial and chronic lupus symptoms mimic the symptoms of several other diseases, leading to misdiagnoses and making lupus extremely challenging to diagnose.

As lupus symptoms vary widely and come and go unpredictably, diagnosis is usually based on detailed clinical examination and adapted laboratory tests. These latter include anti-dsDNA or anti-Sm antibodies, which are characteristic of and specific to the disease.

Diagnosis at an early stage is particularly difficult because a number of general symptoms such as fatigue, weight loss, unexplained fever, may mislead the clinician.

The non-specific nature of this disease, especially in its initial form, explains the delay in diagnosis.

Over time, a variety of more specific symptoms will appear during flares involving various organs simultaneously or successively. After several years of evolution within a body, all organs may be affected.

Treating lupus patients

Treatment options are as varied as the multiplicity of clinical forms because each requires a tailored treatment strategy.

Fundamentally, treatment of SLE involves preventing flares and reducing their severity and duration when they occur; helping maintain normal function and; preventing serious complications.

The short-term goal of treatment is to quickly control involvement of the nervous system and weighing up the risks of immunosuppressive therapy.

In the long term, the aim is to define the minimum effective treatment to keep the disease in remission so the patient can have a better quality of life.

But the management of lupus now benefits from a new treatment that is an improvement on the current fairly toxic medications.

Hope on the horizon

In March of this year, the U.S. Food and Drug Administration approved Belimumab as new treatment for lupus.

This is the first treatment for the disease with proven efficacy in a large randomized trial. It is also the first new and effective treatment for it in 50 years.

Prescriptions have to be limited to systemic lupus with autoantibodies, which is active despite the usual treatment, and displays a high level of activity.

Fans of House will know that the first and only time lupus made its appearance in the show was in episode 8 of season 4, leading House to exclaim, “It’s finally lupus!”

And now you also know why this elusive disease remains an option when all others seem exhausted and indeed, why it’s always important to consider whether it may, in fact, be lupus.

Systemic lupus erythematosus is a diagnostic challenge. It’s insidious, and although the first sign to come to mind might be the telltale sun rash, symptoms can be vague and overlap with other diseases such as chronic fatigue syndrome, fibromyalgia, or rheumatoid arthritis.

“Several diseases are known as ‘the great imitators,’ and lupus is one of them, because it involves multiple organ systems and not every patient has the same presentation,” said Chaim Putterman, MD, chief of the Division of Rheumatology at Montefiore Medical Center and Albert Einstein College of Medicine in New York. “Initial symptoms can be nonspecific, such as fatigue, muscle pain, joint pain, and a general feeling of being unwell—nothing that clearly differentiates lupus from garden-variety complaints internists may hear.”

Marianthi Kiriakidou, MD, director of the Jefferson Lupus Center in Philadelphia, consults with patient Susan Steinberg about managing her lupus symptoms. Photo by Daniel Burke Photography

Because the initial symptoms can be so vague, internists tend not to think of lupus, said Marianthi Kiriakidou, MD, associate professor of medicine at Thomas Jefferson University and director of the Jefferson Lupus Center in Philadelphia.

“Often, if there are no other markers than inflammation, patients with fever will get several rounds of antibiotics before the internist thinks something else might be going on,” Dr. Kiriakidou said.

Yet internists may be uniquely positioned to shed light on a diagnosis, said Dr. Putterman. “In a fragmented health care system, patients may be seen by many doctors—hematologists, nephrologists, neurologists, obstetricians, and so on. Sometimes you need an excellent generalist to put everything together to say it’s one disease.”

Screening

According to the Lupus Foundation of America, more than 90% of people with lupus are women, typically between the ages of 15 and 44.

“This is not to say that we don’t see lupus in males, and there are limited studies and data on this, but it tends to happen either in their teens or when they are older than 50,” said Dr. Kiriakidou, who added that patient demographics should play a role when internists are assessing the possibility of lupus.

Race and ethnicity can also help determine the likelihood of lupus, as can family history, Dr. Kiriakidou added. The Foundation notes that lupus is more common in African-Americans, Hispanics, Asian-Americans, Native Americans, Native Hawaiians, and Pacific Islanders than in whites. The Foundation estimates that people who have relatives with lupus have a 5% to 13% chance of developing the disease themselves.

This patient has a rash in subacute cutaneous lupus erythematosus, an annular polycyclic rash characterized by scaly erythematous circular plaques with central hypopigmentation. Photo © American College of Physicians

The most recent criteria for classifying lupus were developed by the American College of Rheumatology (ACR) and were published in the September 1997 Arthritis & Rheumatology. Although they were designed to classify patients for clinical trials, they are sometimes used in practice to help diagnose patients suspected to have lupus.

They consist of 11 items, of which 4 must be present for a classification of lupus. Of those 4, 1 must be a positive test result for autoimmunity. The 11 criteria are malar rash, discoid rash, photosensitivity, oral ulcers, arthritis, serositis (pleuritis, pericarditis), kidney disorder (protein or cellular casts in the urine), neurological disorder (seizures or psychosis), blood disorder (anemia, leukopenia, lymphopenia, thrombocytopenia), immunologic disorder (anti-DNA or antiSm or positive for antiphospholipid antibodies), and abnormal antinuclear antibody (ANA).

In a paper in the August 2012 Arthritis & Rheumatology, the Systemic Lupus International Collaborating Clinics (SLICC) group revised and validated the ACR SLE classification criteria, based on evidence from 1,400 patients and controls. The revision classifies a patient as having lupus if the patient has biopsy-proven lupus nephritis with ANA or anti-dsDNA antibodies or if the patient satisfies 4 of the ACR’s diagnostic criteria, including at least 1 clinical and one immunologic criterion. Michelle Petri, MD, director of the Johns Hopkins Lupus Center in Baltimore and co-author of the SLICC group’s paper, emphasized that SLICC is meant for classification, not diagnosis.

The ACR agreed this year to support a collaboration of North American and European lupus investigators on a project to develop new classification criteria for SLE, largely because of the need to more easily classify patients with early disease and better distinguish SLE from nonautoimmune conditions, said Amy S. Miller, senior director of quality for ACR.

When patients meet some criteria but not enough for a diagnosis, they should be monitored closely, said Gary L. Bryant, MD, FACP, vice chair for clinical affairs and associate professor of medicine in the Division of Rheumatic and Autoimmune Diseases at the University of Minnesota Medical School in Minneapolis.

“Early on, some patients may not qualify for a definitive diagnosis. They meet 3 of the criteria, not 4, so we follow along with the primary care physician for a while, calling what the patient has an ‘undifferentiated connective disease,’” said Dr. Bryant.

The autoimmune tests in the ACR criteria include the ANA test. Experts agree there are several caveats with this test.

“Just because it’s positive, that doesn’t mean the patient has lupus,” said Dr. Kiriakidou. “The ANA is a marker of autoimmunity but not necessarily of autoimmune disease. It will just tell us that the immune system is activated against the body. In the context of the right clinical presentation and other labs, it contributes to the diagnosis but is not itself enough for a diagnosis.”

According to an article in the October 2013 Annals of Internal Medicine by Dr. Kiriakidou and her colleagues, the ANA produces false positives in 3% to 5% of healthy individuals or patients with other autoimmune or infectious diseases.

“Because of the high percentage of false positives, make sure you don’t do the ANA test for the wrong reason,” said Dr. Putterman. “For example, if you take 100 patients with back pain as a major presentation, 5% to 10% of them may be ANA-positive. You don’t want to tell someone with lumbosacral pain that they have lupus. Only use the ANA in patients that have a moderate to high risk of autoimmune connective disease.”

Dr. Bryant noted that the ANA is more suited to ruling lupus out than in. “The chance that someone has lupus but a negative ANA is less than 10%. If the patient is negative, think 3, 4, or 5 times about diagnosing the patient with lupus.”

Internists who are ready to make a diagnosis of lupus should consult with a rheumatologist, said Dr. Putterman. “It’s very important for there to be an initial referral to confirm the diagnosis. Then once the diagnosis is confirmed, I would view management as a partnership between internist, rheumatologist, and the patient,” he said.

Managing lupus

The experts agree that complex cases involving active disease, life-threatening disease, multiple organs, or comorbidities such as heart failure should be managed primarily by a rheumatologist.

“Most internists would not be comfortable initiating therapy in patients in active disease, as it can be severe and the drugs and medications that are used are cytotoxic, immunosuppressive, and associated with potentially dangerous side effects,” said Dr. Putterman.

These drugs include mycophenolate mofetil, azathioprine, methotrexate, cyclophosphamide, cyclosporine, tacrolimus, belimumab, and rituximab.

However, internists could be comfortable with long-term management, Dr. Putterman said. “Lupus patients need a lot of regular follow-up even if the disease is apparently clinically inactive. Those with active disease may need to be seen once every few weeks for 2 or 3 months.” He also noted that internists play a crucial role in watching out for infections in patients on immunosuppressive drugs because they often see infections in other parts of their practices.

Dr. Bryant agreed. “Once a treatment plan is in place, a lot of the monitoring can be done by the internist with occasional visits to the rheumatologist just to weigh in on whether there is a need for any changes in disease management.”

Geography matters, particularly with immunosuppressive drugs, which need to be monitored every few weeks. “It may be more convenient for a patient to see an internist in rural areas or in areas where there are few rheumatologists. I rely on patients having an excellent relationship with their primary care providers,” said Dr. Bryant.

Milder cases of lupus may offer internists an opportunity to take the lead in disease management, said Deana Lazaro, MD, chief of the rheumatology section at the VA New York Harbor Healthcare System in New York. “These would be limited to skin manifestations, arthritis, and constitutional symptoms,” she said.

Dr. Lazaro noted that treatment in mild cases can be as simple as NSAIDs, but the mainstay is hydroxychloroquine.

“It’s ideal because it treats joint symptoms and constitutional symptoms and has other health benefits, such as a positive effect on glycemic parameters and lipids, as well as the risk of lupus flare,” Dr. Lazaro said. She added that hydroxychloroquine requires regular eye tests, another area of care internists can oversee.

While lupus can affect every major system, the kidneys are particularly vulnerable. The Lupus Foundation of America estimates that 40% of adults and nearly 66% of children with lupus will develop kidney complications that require medical evaluation and treatment.

Patients with lupus are at increased risk of cardiovascular events, as well. A paper in the August 2005 Nature Clinical Practice Cardiovascular Medicine noted that risk of heart attack rises 50-fold in women between 35 and 44 who have lupus.

Because lupus is a head-to-toe disease, internists can help their patients minimize risks of complications by ensuring that they receive appropriate medication-related monitoring and the basic care and education they need.

Dr. Kiriakidou’s paper in Annals noted that routine laboratory testing should include a complete blood count, basic metabolic panel, and urinalysis during follow-up visits and that all patients with lupus should receive flu and pneumonia shots.

The Lupus Foundation of America notes that the overall risk of cancer is 10% to 15% higher in people with lupus. A paper published in the May 2013 Journal of Autoimmunity noted increased risk of cancers such as non-Hodgkin’s lymphoma, leukemia, and cancers of the vulva, lungs, thyroid, and possibly liver.

“Preventive cancer screening should be up to date,” said Dr. Kiriakidou. “Everything from Pap smears to mammograms to colonoscopies should be done according to prevailing guidelines.”

Flares and corticosteroids

Corticosteroids are part and parcel of lupus treatment, and internists should not shy away from them when the patient is having a flare, said Dr. Lazaro. “It’s important to use enough for the condition you are treating. If you use too little, the autoimmune process will continue, and then you end up using more in the long run. The idea is to hit it hard in the beginning, then taper as rapidly as possible and switch to a steroid-sparing agent.”

Dr. Petri agreed. “Our goal is to get everyone off the steroids as soon as possible, or at least to less than 6 mg. Long-term use of corticosteroids increases the risk of permanent organ damage later and increases the risk of cardiovascular events.”

Internists can take the lead on talking to their patients about the dangers of continued prednisone use, said Dr. Putterman.

“Some patients take more prednisone than we would like, or they take it for a few weeks, stop suddenly, then start again, which is potentially life-threatening,” said Dr. Putterman. “But internists are familiar with drugs like prednisone from other patients who are on it for various other reasons and are vital in ensuring that the patient is taking this class of medications correctly.”

Dr. Kiriakidou noted that despite its risks, prednisone is the preferred way to quickly suppress the inflammatory process. “Some medications take 4 to 6 weeks for full effect, and you don’t want a patient to have to wait a month and a half with swollen joints and joint pain to get relief,” she said. “Just remember that it’s a bridge therapy.”

Additional reading

Eilertsen GØ, Becker-Merok A, Nossent JC. The influence of the 1997 updated classification criteria for systemic lupus erythematosus: epidemiology, disease presentation, and patient management. J Rheumatol. 2009;36:552-9. doi:10.3899/jrheum.080574

Haque S, Bruce IN. Therapy insight: systemic lupus erythematosus as a risk factor for cardiovascular disease. Nat Clin Pract Cardiovasc Med. 2005;2:423-30.

Hochberg MC. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus . Arthritis Rheum. 1997;40:1725.

Kiriakidou M, Cotton D, Taichman D, Williams S. Systemic lupus erythematosus. Ann Intern Med. 2013;159:ITC4-1.

Lupus Foundation of America. What are the risk factors for developing lupus? Available online.

Lupus Foundation of America. How does lupus affect the renal (kidney) system? Available online.

Petri M, Orbai AM, Alarcón GS, et al. Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus. Arthritis Rheum. Aug 2012;64(8):2677-86. doi: 10.1002/art.34473.

Sugai DY, Gustafson CJ, De Luca JF, Davis SA, Jorizzo JL, O’Rourke KS, et al. Trends in the outpatient medication management of lupus erythematosus in the United States. J Drugs Dermatol. 2014;13:545-52.

Tozzoli R, Bizzaro N, Tonutti E, Villalta D, Bassetti D, Manoni F, et al; Italian Society of Laboratory Medicine Study Group on the Diagnosis of Autoimmune Diseases. Guidelines for the laboratory use of autoantibody tests in the diagnosis and monitoring of autoimmune rheumatic diseases. Am J Clin Pathol. 2002;117:316-24.

Systemic Lupus Erythematosus (SLE)

Prevalence

Prevalence is a measurement of all individuals affected by a disease at a particular time, usually a year.

Older national prevalence estimates vary widely due to differences in case definitions, small study populations, and study methods. A conservative estimate suggests a prevalence of 161,000 with definite SLE and 322,000 with definite or probable SLE.4

Results from the CDC Lupus registries estimated that annual prevalence from 2002–2004 was much higher for blacks than whites in Michigan (Washtenaw and Wayne Counties) (111.6 vs 47.5 per 100,000 people)5 and in Georgia (DeKalb and Fulton Counties) (128.0 vs 39.9 per 100,000 people).6 Annual prevalence from 2007–2009 for American Indians/Alaska Natives was 178 per 100,000 people.7 Registries in California (San Francisco County) and New York City (Manhattan) provided 2007-2009 prevalence estimates for Hispanics (90.5 and 82.2 per 100,000 people, respectively) and Asians (94.7 and 56.2 per 100,000 people, respectively).8,9

Incidence

Incidence is a measurement of the number of new cases of individuals who contract a disease during a particular period of time, often a year.

Recent national incidence estimates are not available for SLE. National incidence data are difficult to obtain because it is relatively expensive to capture all diagnosed cases reliably (learn more about SLE prevalence and incidence above) and the year of onset is hard to determine (slowly developing, non-specific symptoms and signs), so resource-intense studies must be done in small areas.1

SLE incidence estimates are available from the five CDC-funded lupus registries. Annual incidence for different racial/ethnic groups from 2002–2004 was much higher for blacks than whites in Michigan (7.9 vs 3.7 100,000 people)5 and in Georgia (9.4 vs 3.2 per 100,000 people).6 Annual incidence from 2007–2009 for American Indians/Alaska Natives was 7.4 per 100,000 people).7 From 2007–2009, incidence for Hispanics in San Francisco County and Manhattan was 4.1 and 4.0 per 100,000 people, respectively, and for Asians, incidence was 4.2 and 3.8 per 100,000 people, respectively.8,9

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Can a person die from SLE?

Causes of premature death associated with SLE are mainly active disease, organ failure (e.g., kidneys), infection, or cardiovascular disease from accelerated atherosclerosis.10 In a large international SLE cohort with average follow-up of over 8 years during a 1958–2001 observation interval, observed deaths were much higher than expected for all causes, and in particular for circulatory disease, infections, renal disease, and some cancers. Those who were female, younger, and had SLE of short duration were at higher risk of SLE-associated mortality.11

Using death certificates for US residents, SLE was identified as the underlying cause of death for an average of 1,176 deaths per year from 2010–2016.12 SLE was identified as a contributing cause of death (one of multiple causes of death, including underlying cause of death) for an average of 2,061 deaths per year during that 7-year-period.13

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What is CDC doing about SLE?

CDC has previously funded five lupus registries and the development of a public health agendaCdc-pdfExternal to guide public health efforts. Currently, CDC is funding work on several SLE-relevant activities, such as three follow-up studies and research for self-management. For more information, visit the CDC-funded activities page.

Top of Page Other Types of Lupus

SLE is the most common and most serious type of lupus. Other types of lupus include the following:

Cutaneous lupus (skin lupus) is lupus that affects the skin in the form of a rash or lesions. This type of lupus can occur on any part of the body, but usually appears where the skin is exposed to sunlight.

Drug-induced lupus is similar to SLE, but occurs as the result of an overreaction to certain medications. Symptoms usually occur 3 to 6 months after starting a medication, and disappear once the medicine is stopped.14 Learn more about drug-induced lupus on the Medline Plus websiteExternal.

Neonatal lupus occurs when an infant passively acquires auto-antibodies from a mother with SLE. The skin, liver, and blood problems resolve by 6 months, but the most serious problem—congenital heart block—requires a pacemaker and has a mortality rate of about 20%.15

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Additional Information

CDC Resources
  • Lupus Basics
  • CDC-Funded Lupus Activities
  • CDC-Recommended Intervention Programs for Arthritis and other Rheumatologic Conditions
External Resources
  • National Resource Center on LupusExternal
  • Lupus Research AllianceExternal
  • American College of Rheumatology–LupusExternal
  • The Lupus InitiativeExternal
  • National Institute of Arthritis and Musculoskeletal and Skin DiseasesExternal

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  1. Dall’Era M. Systemic lupus erythematosus. In: Imboden JB, Hellman DB, Stone JH. (Eds). Current Rheumatology Diagnosis and Treatment. 3rd ed. New York, NY:McGraw-Hill; 2013.
  2. Jolly M, Pickard SA, Mikolaitis RA, Rodby RA, Sequeira W, Block JA. Lupus QoL-US benchmarks for US patients with systemic lupus erythematosus. J Rheumatol. 2010;37(9):1828–1833. doi:10.3899/jrheum.091443. PubMed PMID: 20716659. abstractExternal
  3. Yazdany J, Yelin E. Health-related quality of life and employment among persons with systemic lupus erythematosus. Rheum Dic Clin North Am. 2010;36(1):15–32. PubMed PMID: 20202589; PubMedCentral PMCID: PMC2833285. doi:10.1016/j.rdc.2009.12.006. abstractExternal
  4. Helmick CG, Felson DT, Lawrence RC, et al. Estimates of the prevalence of arthritis and other rheumatic conditions in the United States: Part I. Arthritis Rheum. 2008;58(1):15–25. PubMed PMID: 18163481. doi: 10.1002/art.23177. abstractExternal
  5. Somers EC, Marder W, Cagnoli P, et al. Population-based Incidence and Prevalence of Systemic Lupus Erythematosus: The Michigan Lupus Epidemiology and Surveillance Program. Arthritis Rheumatol. 2014;66(2):369–378. doi:10.102/art.38238. PubMed PMID: 24504809; PubMed Central PMCID: PMC4198147. abstractExternal
  6. Lim SS, Bayakly AR, Helmick CG, Gordon C, Easley KA, Drenkard C. The incidence and prevalence of systemic lupus erythematosus, 2002–2004: The Georgia Lupus Registry. Arthritis Rheumatol. 2014;66(2):357–368. doi:10.1002/art.38239. PubMed PMID: 24504808. abstractExternal
  7. Ferucci ED, Johnston JM, Gaddy JR, et al. Prevalence and incidence of systemic lupus erythematosus in a population-based registry of American Indian and Alaska Native people, 2007–2009. Arthritis Rheumatol. 2014;66(9):2494–2502. doi: 10.1002/art.38720. PubMed PMID: 24891315. abstractExternal
  8. Dall’Era M, Cisternas MG, Snipes K, Herrinton LJ, Gordon C, Helmick CG. The incidence and prevalence of systemic lupus erythematosus in San Francisco County, California: The California Lupus Surveillance Project. Arthritis Rheum. 2017;69(10):1996–2005. doi: 10.1002/art.40191. PubMed PMID: 28891237. abstractExternal
  9. Izmirly PM, Wan I, Sahl S et al. The incidence and prevalence of systemic lupus erythematosus in New York County (Manhattan), New York: The Manhattan Lupus Surveillance Program. Arthritis Rheum. 2017;69(10):2006-2017. doi: 10.1002/art.40192. PubMed PMID: 28891252. abstractExternal
  10. Sacks JJ, Helmick CG, Langmaid G, Sniezek JE. Trends in deaths from systemic lupus erythematosus—United States, 1979–1998. MMWR Morbid Mortal Wkly Rep. 2002;51(17):371–374. PubMed PMID: 12018384. abstractExternal Republished in JAMA. 2002;287(20):2649–2650. PubMed PMID: 12035789.
  11. Bernatsky S, Boivin J-F, Joseph L, et al. Mortality in systemic lupus erythematosus. Arthritis Rheum. 2006;54:2550–2557. doi: 10.1002/art.21955. PubMed PMID: 16868977. abstractExternal
  12. Centers for Disease Control and Prevention, National Center for Health Statistics. Compressed Mortality File 1999–2016 on CDC WONDER Online Database. http://wonder.cdc.gov/cmf-icd10.html. Accessed June 1, 2018.
  13. Centers for Disease Control and Prevention, National Center for Health Statistics. Multiple Cause of Death, 1999–2016 on CDC WONDER Online Database. https://wonder.cdc.gov/controller/datarequest/D77. Accessed June 1, 2018.
  14. National Library of Medicine. Medline Plus: Drug-Induced Lupus Erythematosus Website. http://www.nlm.nih.gov/medlineplus/ency/article/000446.htm. Accessed January 27, 2017.
  15. Sammaritano LR. Pregnancy in rheumatic disease patients. J Clin Rheumatol. 2013;19(5):259–266. PubMed PMID: 23884185. doi: 10.1097/RHU.0b013e31829ce35f. abstractExternal

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Because lupus can produce a variety of symptoms in different individuals, it may take some time for a physician to actually make the diagnosis. Often a doctor will say that lupus might be present, but that the current symptoms are insufficient to signify a firm diagnosis. In this event, s/he will likely monitor the patient’s symptoms, signs, and lab tests closely over time and have him/her return for regular visits.

No single finding qualifies an individual as having SLE. Instead, the American College of Rheumatology (ACR) has devised certain classification criteria, and four or more of these criteria must be present for a classification of lupus. Although, these criteria are currently being updated, they are believed to be about 90% effective. The ACR criteria include malar rash; discoid rash; photosensitivity (development of a rash after sun exposure); oral or nasal ulcers; arthritis of multiple joints; serositis: (inflammation of the lining around the lungs or heart); kidney disease indicated by protein or casts in the urine; neurological disorders such as seizures and psychosis; and blood disorders such as hemolytic anemia, leukopenia, and lymphopenia. Other signs that are common but not included in the classification criteria are hair loss or breaking, especially around the forehead, and Raynaud’s Phenomenon, a two- or three-color change of the fingertips upon cold exposure.

Although no one symptom qualifies someone as having lupus, certain clinical techniques can be used to narrow down the diagnosis. For example, a test for antinuclear antibodies (ANAs) in the blood is probably the first tool a physician will use. A positive ANA test does not necessarily mean that someone has lupus; in fact, one out of five normal women has a positive ANA. However, a negative ANA test greatly reduces the suspicion.

Disease indices

Other sets of criteria, known as disease activity indices, exist for the monitoring of lupus. These forms allow a physician examining a patient to check for the improvement or worsening of the disease. These forms include the BILAG (British Isles Lupus Assessment Group Index), SLEDAI (Systemic Lupus Erythematosus Disease Activity Index), SLAM (Systemic Lupus Activity Measure), ECLAM (European Consensus Lupus Activity Measurement), and the Lupus Activity Index (LAI). Sometimes these indices will show no signs of lupus, even when the patient feels badly. This is because some of the problems that occur in lupus, such as chronic fatigue and pain, are not tracked by the indices. Instead, these symptoms represent a co-occuring problem called fibromyalgia.

Other similar conditions

Since other diseases and conditions appear similar to lupus, adherence to classification can greatly contribute to an accurate diagnosis. However, the absence of four of these criteria does not necessarily exclude the possibility of lupus. When a physician makes the diagnosis of SLE, s/he must exclude the possibility of conditions with comparable symptoms, including rheumatoid arthritis, systemic sclerosis (scleroderma), vasculitis, dermatomyositis and arthritis caused by a drug or virus.

Sources

  • Salmon, Jane E., and Robert P. Kimberly. “Systemic Lupus Erythematosus.” Hospital for Special Surgery Manual of Rheumatology and Outpatient Orthopedic Disorders: Diagnosis and Therapy. 5th ed. Philadelphia: Lippincott Williams & Wilkins, 2006. 221-38.
  • Schur, Peter H. “General Symptomology.” The Clinical Management of Systemic Lupus Erythematosus. Ed. Peter H. Schur. 2nd ed. Philadelphia: Lippincott-Raven, 1996. 9-16.
  • Wallace, Daniel J. The Lupus Book: A Guide for Patients and Their Families. 3rd ed. New York: Oxford University Press, 2005. 259.

Diagnosing Cutaneous Lupus

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Cutaneous lupus is a chronic skin condition in which rashes or sores appear on the face, scalp, chest, arms, and other sun-exposed parts of the body. It is an autoimmune disorder, which means that symptoms develop because the body’s immune system mistakenly attacks healthy skin cells. The condition can be a sign of systemic lupus erythematosus, also an autoimmune disease, which causes inflammation in joints and other parts of the body.

To diagnose cutaneous lupus, an NYU Langone dermatologist examines your skin and may remove a small skin sample in a procedure called a biopsy. If your symptoms suggest systemic lupus, your dermatologist may recommend a blood test to confirm or rule out the diagnosis.

Medical History and Physical Exam

In order to put your symptoms into context, a dermatologist may ask when you first noticed a rash or sore, how frequently the symptoms appear, and whether your skin feels warm, itchy, or painful. He or she also wants to know if the symptoms worsen after you’ve been in the sun. The doctor also asks whether anyone in your family has systemic lupus or cutaneous lupus, or whether you are experiencing any other symptoms—for example, joint aches or pains.

Your dermatologist closely examines your skin to determine the type, pattern, and shape of rashes or sores. He or she may then perform testing before making a diagnosis.

Biopsy

A dermatologist may need more information to confirm that you have cutaneous lupus rather than another skin condition, such as rosacea or psoriasis, which cause similar symptoms. He or she may perform a skin biopsy by removing a small piece of affected skin and sending it to a laboratory for testing.

There are two common ways your doctor may perform a biopsy. One technique involves shaving off a small piece of skin with a scalpel, called a shave biopsy. In another method, known as a punch biopsy, the doctor uses a handheld device that resembles a pencil to punch through several layers of skin.

A biopsy takes place in your doctor’s office. He or she may use a local anesthetic to reduce any discomfort. Test results are usually available within two weeks.

Blood Test

If you have signs or symptoms of systemic lupus erythematosus, such as a butterfly rash on the face or persistent joint pain, your dermatologist may recommend a blood test to help determine if you have the condition. He or she draws blood and sends it to a laboratory. The test results usually arrive in five to seven days, and your doctor then discusses the results.

If your dermatologist suspects systemic lupus, he or she can refer you to an NYU Langone rheumatologist, a doctor who specializes in inflammatory conditions, for additional tests and treatment.

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