Friday, April 1, 2011

Diagnosing Lupus

   As anyone who watches “House” knows, lupus is not called “The Great Imitator” for nothing. One of the major issues that has dogged lupus researchers for years is the idiosyncratic nature of the disease. It varies from person to person, or even within one person from month to month. How does one come up with a treatment that will help someone’s eyes and their kidneys at the same time? For that matter, how does one even diagnose such a disease? Certainly there are symptoms common to most patients, but how do you know that someone in the hospital suffering from heart failure has the same disease as someone walking around with mild arthritis and a fever? Yes, the person with heart failure may also have arthritis and a fever, but those symptoms are not likely to be the first symptoms a cardiologist will consider.

            Rheumatologists (doctors who treat autoimmune diseases) have tried to standardize the diagnostic criteria used to diagnose lupus. Unfortunately, even these standards vary from country to country. In the United States, for example, only major psychological events (psychotic episodes, seizures, etc.) are considered when making a diagnosis of neurological lupus. In Europe other less dramatic symptoms are considered. It goes without saying that these differences make international studies exceedingly difficult.

            In the United States the American College of Rheumatology (ACR) has come up with a list of eleven symptoms to diagnose lupus. The rule is that you need to have four of the eleven symptoms. They do not all have to happen at the same time, and often one symptom will show up years after a different one first made its appearance. In addition, rheumatologists will occasionally diagnose someone who only has three symptoms if (s)he has a family history of lupus or other autoimmune diseases.

            There are very good resources to learn about the eleven criteria, but here is the list (in no particular order) as explained by Sam:

1)    Malar Rash: This is the classic butterfly rash that stretches across the top of many lupus patients’ faces. It is so common that many people are surprised that I can have lupus since I don’t (so far) have a butterfly rash.

2)    Discoid Lesion: This is a raised rash that can appear in various places on the lupus patients’ skin. It is scaly, and can cause permanent disfiguration or scarring of the skin. If it appears on the scalp it can also cause permanent hair loss in the region of the rash.

3)    Photosensitive Rash: This can be either of the two first rashes if the rash either appears or is worse after the lupus patient is exposed to sunlight. It can also be any other kind of rash that appears in reaction to the sun. It is also worth noting that photosensitivity (being “allergic” to the sun) can appear in other ways. It can cause fevers, joint pain, or trigger a major lupus flare.

4)    Mouth sores: The ACR claims that these are usually painless. Me, I think that’s bull****. Sure, some of the sores don’t hurt, but many times a lupus patient will wake up feeling like (s)he has been chewing steel wool in his/her sleep. Not fun, and not painless.

5)    Inflammation in the lining of the lungs or heart: Inflammation of the lining of the lungs is called pleurisy or pleuritis. It hurts like crazy, and is fairly common. If it gets severe enough, pleuritis can cause shortness of breath. Inflammation of the lining around the heart is called pericarditis. It is somewhat less common, but can also be quite painful.  Pericarditis can be severe enough to reduce the space around the heart, which can lead to heartbeat irregularities. However, while they can be extremely painful, pleuritis and pericarditis are not considered dangerous in most cases.

6)    Arthritis: Long term pain and/or swelling of at least two joints in the body. Most people with arthritis have a lot more than two joints affected. Did you know you can have arthritic toes? They hurt, in case you were wondering. Arthritis in lupus patients can be debilitatingly painful, but generally does not damage the bones of the joint.

7)    Kidney complications: Lupus that directly affects the kidneys is known as Lupus Nephritis. Kidney disease can be quite serious, and lupus patients with lupus nephritis often require kidney transplants when their own kidneys become too damaged to function.

8)    Neurological symptoms: As I mentioned before, in the US only major neurological complications such as seizures or psychotic episodes are considered in diagnosing lupus patients.

9)    Low blood counts: Sometimes the immune system in a lupus patient will decide that various blood cells are foreign, and will try to kill them. These cells can be red blood cells, white blood cells, and/or platelets. This autoimmune reaction can lead to life-threatening disease if cell counts get too low. Unfortunately, blood transfusions alone do not help, as the immune system immediately kills the cells from the transfusion.

10)  Positive ANA test: ANA (anti-nuclear antibodies) are antibodies made by the immune system to attack parts of normal cells. While the presence of ANA alone does not necessarily mean a patient has lupus, an overwhelming majority of lupus patients do test positive for ANA. ANA levels are expressed in titer numbers, and any count equal or greater than 1:80 is considered positive.

11)  Positive tests for other auto-antibodies: There are a variety of other antibodies that the immune system can make in order to try to kill normal cells. A positive result for any of these antibodies fulfills the requirement for this criterion.

Of course, it goes without saying that these are not the only symptoms of lupus. Most lupus patients experience fever and fatigue, and many also have hair loss, dry eyes, nausea and other non-specific but miserable symptoms. Systemic lupus is, unsurprisingly, systemic. This means that the immune system can attack any part of the body, so there are limitless possibilities for symptoms. This is why lupus is the Great Imitator, and part of the reason doctors are often hesitant about making the diagnosis. Most lupus patients wait literally years for some doctor to put the pieces together and commit to the lupus diagnosis. Before, and sometimes even after, the diagnosis, the lupus patient will be told some variation of, “It’s all in your head,” which seems to be clinicians’ favorite diagnosis when they can’t figure out what’s really going on. Hopefully with the approval of Benlysta, lupus will be more widely known and understood. Maybe then patients who really do meet the criteria for lupus will not have to wait so long for a solid diagnsis.


  1. Sam, thank you for writing this. It's refreshing to hear the list from the viewpoint of someone "LIVING" the list. It takes on a whole new meaning.

  2. I'm afraid that I did have to edit most of the swearwords I normally use when describing lupus patients. I normally draw from both English and French in order to get a sufficient number of swearwords to do lupus justice.

  3. Wow... thank you for explaining to those of us who don't know that much about lupus.

  4. Pericarditis inflammation can become severe enough to restrict the space the heart can beat in, which although not directly damaging the heart, is of itself dangerous.

    And then of course there are always those whose major blood vessels take a hit, and those who make the antibody against a type of fat found only in heart muscle.

  5. Josh-- you're very welcome.

    Mom-- Yes, I'm aware of the fact that the space around the heart can become constricted; that can be the reason behind the altered pulse I mentioned. But pericarditis and pleuritis aren't generally considered "dangerous" in and of themselves. I guess that's because it's relatively uncommon for the space around the heart to be so constricted that it really blocks the ability of the heart to function, and because the membranes around the heart and lungs are not considered part of those organs. All of that being said, I did edit the pericarditis info to reflect your experiences.

  6. Thanks for explaining all of this. Very confusing, indeed! Still trying to think of some way to help you with your medication. We are sending money off to Japan, etc - when someone here needs our help. I wish I could do both, but I am limited. Have you called 211 for information on human services and resources available in your community! Keep bugging your doctor. See you soon. Love, Becky