01-31-2008, 09:43 AM
Hello! I have been researching on the internet for days trying to find some answers and I am not having any luck. My little sister and BEST FRIEND (29 years old) was just told by her doctor that she needs to see a rhematologist b/c they think she may have lupus. They would not answer any questions or give her any information....they just called her on the phone and the lady said she was not a doctor and they do not specilize in this so she could not tell her anything. This same doctor also misdiagnosed my sister's husband a couple years ago and it almost cost him his life. He ended up needing open heart surgery at 30!!!
The rhematologist cannot get my sister in until March 5th...so now we have weeks of waiting with no answers. Here are her symptoms and her recent blood work. Will someone please look at these symptoms and bloodwork and let me know what you think?
-Severe pain in her right wrist for the last couple years
-Severe pain in foot just below her big toe--she collapsed out of bed a couple weeks ago b/c she was in so much pain from this
-her hands and feet are always cold and sometimes turn blue
-she will get little rashes (but they are not read...they are little white bumps)
Uric Acid: 5.7 Ref range 2.5-7.0
Sed Rate by modified westergren: 0 Ref Range < or = 20
Rhematoid Factor: 4 Ref Range: <14
C-Reactive Protein: .50 Ref Range <.80
Antinuclear Antibodies: Positive
ANA patter: Speckled
Antinuclear Antibodies: 1:40, should be less than 1:40
On her sheet it just says: Referral to Rheum for lupus.
Any help would be appreciated!!!
Thank you and God Bless you all!!
01-31-2008, 10:15 AM
Sorry to hear about your frustration. I do not have all the pertinent facts at my fingertips, but SaySusie, the moderator of this site is a wealth of information, and no doubt she will chime in and answer your questions regarding the tests and so forth. I do know that a single positive result on the ANA is not enough in itself for a diagnosis. There are 11 criteria for diagnosiing Lupus, and at least 4 must be present for a diagnosis. The ANA is one, the painful joints MAY be another, the rashes MAY be another. I say it that way, because only a physician can evaluate the symptoms and decide if they are the kind of things that fit the criteria, or if they symbolize something else. That is still only three things, from what you have said. There are many other things to be assessed.
Have you gone to the Lupus foundation web site? Looking at symptoms can drive a person crazy, as it is easy to see how you can fit your (or her) problems into the scenario, even if a physician may see them differently. I know the wait is excruciating. Another thing you might do is look at the many many people (just read these boards, you will see what I mean) who have and have had Lupus for a long while are living fairly normal lives. We all suffer in many ways, but for the most part, we still have families, go to work, dance, play, enjoy music, have fun with friends, etc. Some of these things are limited by our disease at times. We are miserable, at times. But we still live and bring something special to the world. Try to remember that. Lupus is not a kind disease, I'll not kid you there. But it need not be a death sentence, either.
Your love and concern for your sister says volumes. Please read through the many boards on this site and see the ups and downs of the people who are going through what you fear. Some of them have not been diagnosed, either. They are suffering with the same worries as you. The kindness, love, humor, and other very human feelings that you will read should help you to feel less alone.
Good luck to you and your sister. And cyber hugs to you both.
01-31-2008, 11:01 AM
First, let me give you a brief explanation of Lupus and it might help in understanding why certain tests are run.
Systemic lupus erythematosus, better known simply as "lupus", is an acute and chronic disease. People with lupus suffer from episodes of inflammation of their joints, tendons or other connective tissues and organs.
Skin rashes and lesions are common symptoms of lupus. Lupus is considered a systemic disorder because it is usually accompanied by "constitutional" symptoms such as malaise, fever, anorexia, weight loss, and weakness. These symptoms may result from anemia, which often occurs with lupus. The most severe complications of lupus are those that threaten irreversible damage to internal organs including the brain, kidneys, lungs, heart, and less commonly but sometimes significantly portions of the GI tract. Despite the definite dangers of lupus, many of us are able to keep the disease under control.
The immune system of a person with lupus is overactive and produces abnormal antibodies that attack the body's own tissues. However, exactly what "triggers" this is not known. It has been found that there are genetic, environmental, and hormonal factors involved. Diagnosis is often difficult (Taking weeks, months and sometimes up to a year before a definitive diagnosis is made), and is the diagnosis is based on a combination of findings, including:
* a characteristic butterfly shaped red rash over the cheeks
* a skin rash in other sun exposed areas
* mouth and nose ulcers (often painless)
* arthritis in one or more joints
* kidney dysfunction
* nervous system problems (such as seizures, psychosis, impaired thought processes, and strokes)
l* aboratory tests, including a positive test for antinuclear antibody (ANA)
There are formal criteria for lupus, which are outlined by the American College of Rheumatology. Doctors will consider these criteria present in your sister when making making scientific observations about her symptoms and when attempting to make a final diagnosis. The most common feature of Lupus and the feature that can cause the most problems is inflammation in organs, tissues, joints, etc.
There are many other auto-immune diseases that piggy back with Lupus. Many of us suffer with Lupus as well as one of these other auto-immune disorders such as: Sjorgen's Syndrome, Fibromyalgia, Raynaud's Syndrome, Gout, etc.
Now, let me try to decipher her lab tests for you as best as I can:
Uric Acid: above-normal levels of uric acid is usually found in cases of Gout. Gout is called a "crystal induced" arthritic disorder. In afflicted individuals, there are usually above-normal levels of a blood chemical called uric acid. The sodium crystal of uric acid deposits around joints, within joints, under the skin and occasionally in other tissues. The Joint most commonly effected is the great toe, it is usually, hot, red, and exquisitely and extremely painful. Patients with gout are either over-producers or, more commonly, under-excreters of uric acid.
Sed Rate, also called ESR (a marker for inflammation):
Normal Range = Male: < 10. Female: < 15.
Sed Rate is generally increased in the following conditions: infections (osteomyelitis, pelvic inflammatory disease [75%]), inflammatory disease (temporal arteritis, polymyalgia rheumatica, rheumatic fever, lupus), anemia, pregnancy, chronic renal failure, GI disease (ulcerative colitis, regional ileitis).
This was orginally used to help diagnose rheumatoid arthritis. However, it has been found to be positive in persons with auto-immune diseases (such as Lupus and Sjorgen's Syndrome). In patients with symptoms and clinical signs of Lupus or Rheumatoid arthritis, the presence of significant concentrations of RF indicates that it is likely that they have RA or Lupus. In patients with the symptoms of Sjögren’s syndrome, significant concentrations of RF indicate that it is likely that they have Sjögren’s.
A negative RF test does not rule out these conditions. About 20% of patients with RA or Lupus and many patients with Sjögren’s syndrome will be persistently negative for RF and/or may have very low levels of RF.
This a test that measures the concentration in blood serum of a special type of protein produced in the liver that is present during episodes of acute inflammation or infection. CRP plays the important role of interacting with the complement system, an immunologic defense mechanism. A high result serves as a general indication of acute inflammation. In cases of inflammatory rheumatic diseases, such as rheumatoid arthritis and lupus, doctors can utilize the CRP test to assess the effectiveness of a specific treatment, to determine a treatment, and monitor periods of disease flareup. In known cases of inflammatory disease, such as lupus, a low CRP level is possible, and is not indicative of no inflammation. However, generally a high or increasing amount of CRP in your blood suggests that you have an acute infection or inflammation. Sed Rate (ESR) and C-Reactive Protein are usually used in conjunction to assist doctors in making a diagnosis.
Lupus is a chronic (long-lasting) autoimmune disease where the immune system, for unknown reasons, becomes hyperactive & attacks normal tissue. This attack results in inflammation & brings about symptoms. Antibodies are proteins produced by white blood cells (B lymphocytes). Their normal function is to glue up bacteria and make them easy for the white blood cells to capture and destroy. When the immune system goes wrong, antibodies can be formed that bind to bits of the body (an auto-antibody). Sometimes infection can cause auto-antibodies to be produced and this may be one of the causes of Lupus. The antibodies circulate in the blood, but some of the body's cells have walls permeable enough to let some antibodies in. These can then attack the DNA in the cell's nucleus. That's why some organs can be attacked during a lupus flare while others aren't.
The anti-nuclear antibody (ANA) test is a blood test that measures the antibodies that are directed against various components of the nucleus, so-called anti-nuclear antibodies. The nucleus of living cells contains many chemicals, including the well known DNA & RNA. For reasons which are unclear, Lupus patients produce antibodies which are directed against a number of these molecules.
Patients with active lupus generally have high levels of anti-nuclear antibodies. About 95% of people with SLE will have a positive ANA test at some point during their disease. It is rare to have lupus & have a negative ANA test, however it does happen, it can also take a while for the ANA test to become positive. It is also possible for the ANA to convert from positive to negative following administration of steroids, cytotoxic drugs or kidney failure. Unfortunately, the ANA test, although a very useful screening test, is not specific to lupus. It can be positive in other connective tissue disorders, & also in healthy people. Therefore, a positive ANA test is not diagnostic of lupus, & is only an indicator. A positive ANA test only satisfies one of the eleven criterion for Lupus, a person would need to satisfy at least three additional criteria before a doctor would consider diagnosing lupus.
ANA Speckled Pattern:
Antinuclear antibodies (ANA), which occur in systemic lupus erythematosus (SLE) and Sjogren's syndrome, target specific protein antigens present in the body's nucleated cells. The preferred method of testing for ANA is the immunofluorescent (IFA) technique. The results of this test yields distinctive staining patterns in the nucleus or cytoplasm of the reagent cells used to perform the test. These staining patterns offer specific clues as to which particular antinuclear antibody or antibodies may be present. The specific autoantibody that's present, in turn, gives the physician information as to what autoimmune disease may be present or what other specific autoantibody tests need to be performed. In some cases, more than one autoimmune disease (overlap syndromes) may be present, which causes more than one ANA pattern to be present in a sample.
The type of pattern determines what antibodies might be present. A speckled pattern can be caused by the following antibodies: Smith (Sm), which is diagnostic of SLE (Lupus); nuclear RNP, which is seen in high titers in mixed connective tissue disease (MCTD) and SLE (Lupus); SS-A (Ro), which is seen in Sjogren's syndrome and SLE (Lupus); and SS-B (La), which is seen in Sjogren's syndrome.
Titers can be different depending upon the lab that does the work. A titre (ti-ter) is the number of times a solution (such as a person's blood) can be diluted before a substance (such as an antibody) can no longer be detected. Thus, an ANA titre of 1:80 means that the blood can be diluted to one in eighty parts and the lab technician can still detect the ANA antibody. The dilutions are usually two-fold, so that the next dilution would be 1:160, and the one after 1:320. Since each dilution involves doubling the amount of test fluid, it is not surprising that titers increase rapidly. In fact, the difference between titers of 1:160 & 1:320 is only a single dilution. And it doesn't necessarily represent a major difference in disease activity.
Usually for Lupus, a titer of 1:80 or lower is usually considered negative. However, since titers can go up and down during the course of the disease and since each lab has its own specifications, there really is no universal normal for ANA titers. A positive ANA of more than 1:40 could indicate one of a number of autoimmune diseases including Lupus and Rheumatoid Arthritis.
I hope that I've answered your questions, please let me know if you need anything further. I wish you and your sister the very best.
Peace and Blessings
01-31-2008, 03:32 PM
I appreciate both of you responding. It was very helpful in understanding her blood work. I do have one more question. Since her titre was only 1:40...is more likely that she does NOT have lupus?
Also, underneath the ANA pattern, it says this:
Although the specimen was positive for ANA, the presence of cytoplasmic flurescece was noted on the HEP-2 slide. Other reactivities (e.g. anti mitochondrial antibodies or anti-smooth muscle antibodies) may be responsible for this flurescence.
What does this mean????
Also, from what I've read it seems that people with lupus can have a normal life expectancy and live just as long as someone without? Is this true?
Thank you all so much for your time. I'll keep you posted with her diagnosis.
02-01-2008, 10:10 AM
I read your post and was so touched by your concern for your sister. She is fortunate to have your love and support. I can relate to the telephone call referring your sister to a rheumy without giving any further information. I had exactly the same experience and needless to say, it was quite unsettling. I know it is so frustrating to wait to see the doctor, etc. You will learn that patience in this process is important. There are no easy answers when it comes to auto-immune related conditions. As you will see from reading the posts on this site, it sometimes takes quite some time to get a diagnosis. The most important thing is that your sister finds a physician she trusts who will listen to her. Many here will tell you that sometimes means firing one doctor and going to another. Try not to be discouraged. Help your sister focus on feeling better, whatever it takes. I wish you both peace and health.
02-01-2008, 10:18 AM
As I mentioned in my previous post, the ANA test is not an indicator of Lupus. There are many other diseases that can have a positive ANA. These conditions that have symptoms very similar to Lupus include: mixed connective tissue disease, undifferentiated connective tissue disease, scleroderma, myositis, rheumatoid arthritis and several others.
To complicate things further, there are at least 5% of Lupus patients who have a negative ANA. .So, in short, having a negative ANA does not preclude her from having Lupus, nor does having a positive ANA mean that she does have Lupus. The Lupus diagnoses is based upon her having at least three (3) of the eleven (11) criteria.
With reference to your question about the presence of cytoplasmic flourescence. When a lupus patient has a negative ANA, they generally have Anti SM (anti-smooth muscle antibodies) and/or Serum anti-Ro, and their blood usually contains anti-Re and anti-La antibodies detectable by double immunodiffusion.. The The antimitochondrial antibodies are usually found in people with Systemic Lupus Erythematosis (as well as some other conditions) and with cytoplasmic flourescence on the ANA test can sometimes indicate if there has been liver damage due to the inflammatory nature of the disease.
People with Lupus can indeed live a long and relatively healthy life. In order to do so, some lifestyle changes must be made, they must take their medication as directed, eat a healthy diet, try to get regular exercise, take all of the appropriate precautions (like avoiding the sun, avoiding over exertion, avoiding stress, getting recuperative rest, etc.) and become knowledgeable about the disease, its medications, its treatments, how the disease affects them, and learn about the co-existing diseases.
Of course, you and your sister can come to us at anytime to help with all of these issues. You can go through many of the posts here and find information about all of these issues also.
I hope that I've answered your questions.
Peace and Blessings