Do I or Don't I?
Hello everyone, I am new here, but I have used forums before as I am a Polyglandular Syndrome sufferer.
My most recent dx is ELS. What ever that is. I know it is lupus but my rhuemey in Toronto sort of left me hanging as far as a positive dx and absolulty left me hanging as far as my symptoms.
I have tested pos for anti-RA and anti-SM whatever that is but neg for the ANCA(?).
He told me exactly this when I went back for my results "I would like to tell you you have Lupus..but it's bigger than that....you have polyglandular syndrome. (He is also concerned about my liver I see him in Oct about that, I also have something elses he found about a problem with "thick blood"??)
So what do you think that means? I'm confused.. :roll: Do I have lupus or don't I?
It's not so bad when I'm feeling not to bad but latley I'm really having a time.
Full blown pain, my digestive tract is a mess so I don't want to eat, my sinuses are a mess which is causing all kinds of interesting affects...headache...face pian....poor sleep...night sweats...confusin/dizziness and boy the fatigue is miserable.
I have Addison's disease too, it's another autoimmune thing where the adrenal gland is Kaa-putt, so I take my strength and stamina by mouth in the form of steroids. But when there is another health problem there just isn't enough to go around. See pepole without addison's when under stress physically or otherwise their bodies just produce more adrenaline/steroid to compensate for the stressor.
I have no gp and my specialists are hours away. My hospital is completly useless. Even with the emergency card my specialist wrote for me to give to the triage nurse doesn't help. She's a nurse and most dr's don't even know what Addison's is. They don't know anything nor are they willing to listen. I have quit going there for help.
Any ideas appreciated.
Your situation sounds very complicated. I am sorry I can't offer you any new ideas. I can only offer you my support and to let you know that I understand & wish I could help.
Hi Jean & welcome to our forum.
Here is what I've been able to find out about polyglandular disease:
Autoimmune polyglandular syndrome type I (APS 1) is a mouthful. It also goes by the even more cumbersome name of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Even though APS 1 is a rare disease, it is important to geneticists and immunologists because APS 1 is the first and only systemic (bodywide) autoimmune disease whose cause has been attributable to a defect in a single gene.
By "autoimmune" is meant that the immune system (which normally wards off foreign invaders of the body, such as infections) turns and attacks tissues (such as skin, joints, liver, lungs, etc.) of the body. Examples of common systemic autoimmune diseases include rheumatoid arthritis, systemic lupus erythematosus, diabetes mellitus, Sjogren's syndrome, scleroderma, Goodpasture's syndrome, vitiligo, Addison's disease, thyroiditis, and many others.
Chromosomes (located inside every cell in the body) contain genetic information inherited from each parent. Humans have 23 pairs of chromosomes (one chromosome inherited from each parent). Different regions on the chromosomes contain genes for diverse traits (hair color, eye color, height, blood groups, etc.). Changes (mutations) in these genes can cause disease. By locating (mapping), isolating and sequencing genes and analyzing the ways in which they act, scientists aim to understand (on the molecular, genetic and clinical levels) the causes of many diseases. And they hope to understand the predispositions (tendencies) to even more diseases.
In the December issue of the medical journal Nature Genetics, scientists reported the identification of a novel gene mapped to chromosome region 21q22.3. The gene has been named AIRE(for autoimmune regulator).
Changes in the AIRE gene have been shown to be responsible for APS1. The discovery that this gene is the culprit in a systemic autoimmune disease is of great importance. For the first time researchers have a genetic tool to explore the basis of autoimmunity at the level of molecules!
APS 1 is inherited as an autosomal recessive trait. That means a child with APS 1 has received two changed AIRE genes, one from each parent. A child who gets just one of the APS 1 genes from one parent is normal, but is a carrier of the abnormal gene.
The child with APS 1 syndrome develops problems in numerous glands (polyglandular). These problems include hypoparathyroidism (underfunction of the parathyroid glands which control calcium), hypogonadism (with sex gland failure), adrenal insufficiency (underfunction of the adrenal gland), the insulin-dependent type of diabetes mellitus (juvenile form of diabetes mellitus with absence of insulin production by the pancreas gland), and latent hypothyroidism (underfunction of the thyroid gland).
Persons affected by APS 1 have total baldness (alopecia totalis), inflammation of the cornea and whites of the eye (keratoconjunctivitis), underdevelopment (hypoplasia) of the enamel of the teeth, childhood-onset moniliasis (a fungal infection), juvenile-onset pernicious anemia, gastrointestinal problems (malabsorption, diarrhea), and chronic active hepatitis.
The laboratory studies in APS 1 (alias APECED) attest to an immune disease with low gamma globulin antibodies in blood (hypogammaglobulinemia) and a low T4/T8 cell ratio (as in AIDS). There is specific evidence for autoimmunity with antibodies directed against the adrenal and thyroid glands and against cell nuclei (antiadrenal, antithyroid and antinuclear antibodies).
WITH REFERENCE TO ANTI-ANA & LUPUS:
ANA stands for Antinuclear Antibody. This literally means 'substance against the cell nucleus'. The nucleus is the 'headquarters' of the living cell, therefore the ANA can damage or destroy cells & tissues.
95%-98% of patients with SLE will have a positive ANA test, but the majority of people with a positive ANA test do not have SLE. A positive ANA test can be found in many conditions, including Sjogren's Syndrome, scleroderma, rheumatoid arthritis, & mixed connective tissue disease. Many normal healthy people will also have a positive ANA test. Therefore a positive ANA test, on it's own, does not mean that person has lupus.
Because of this, the physician has to look very carefully at the titer (number) & pattern of the ANA test. The titer shows how many times the technician had to mix fluid from the patient's blood to get a sample free of ANAs. Thus a titer of 1:640 shows a greater concentration of ANA than 1:320 or 1:160, since it took 640 dilutions of the plasma before ANA was no longer detected. The apparent great difference between various titers can be misleading. 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.
ANA titers go up & down during the course of the disease, & may or may not reflect disease activity. Therefore it is not always possible to tell from the titer how severe a person's lupus is.
A titer of 1:80 or lower is usually considered negative.
The pattern of the ANA is studied by microscope. The technician examines a specially prepared slide that shows where antibodies attack the nucleus. Certain antibodies attack certain areas of the nucleus, producing four specific patterns.
The rim (peripheral) pattern is the most specific pattern for lupus, while the homogeneous (diffuse) pattern is the most common pattern seen. The remaining patterns are the speckled and nucleolar patterns. In some cases the pattern helps the doctor decide which of the autoimmune diseases is causing the problem and which treatment program is appropriate.
Because a positive ANA test can be found in other diseases as well as SLE, the physician will use a positive ANA test as only one factor in determining whether or not a patient has lupus. A positive ANA test does not mean that a person has lupus. The physician needs to find other clinical features such as butterfly rashes, arthritis, pleurisy, blood abnormalities, kidney disease, etc., in addition to a positive ANA test before making a diagnosis of SLE.
The reliability of the ANA test depends upon the laboratory. Many variables can interfere with the test & give false numbers. The accuracy of the test can also vary, depending on many factors, such as the strength of the fluorescent antibody, or even the quality of the microscope used.
Once a patient is found to be ANA positive, the physician may want to further investigate which antigen in the nucleus is responsible for the positive ANA test. The knowledge of which antigen is responsible for the positive ANA test can sometimes be helpful in determining which disease is present. For instance, antibodies to DNA (the protein that makes up the body's genetic code) are found primarily in SLE. Levels of these antibodies in the blood can be useful to the physician in following the course of lupus, especially in patients with kidney disease. Anti-DNA levels, however, do not always perfectly match the clinical course of lupus kidney disease. Antibodies to histones (DNA packaging proteins) may be very helpful in determining whether a patient has drug-induced lupus. These antibodies may be found in SLE as well. Antibodies to Sm antigen are found almost exclusively in lupus, & when present, help to clinch the diagnosis of SLE. Antibodies to RNP (ribonucleoprotein) are found in a variety of connective tissue diseases. When present in very high levels, they are indicative of mixed connective tissue disease, a condition with features of SLE, polymyositis, and scleroderma. Antibodies to SS-A are found in both lupus and Sjogren's syndrome and are sometimes associated with babies who are born with neonatal lupus.
I hope that this information has been helpful to you. Please, don't hesitate to tell me if you need anything further
Best of Luck
Peace and Blessings