An Analysis of Sjogren’s Syndrome
Research Question: What is Sjogren’s Syndrome, and how do genetic and environmental factors compound to cause its symptoms?
Independent Project by Anne Madden
What is Sjogren’s?
Sjogren’s Syndrome is an autoimmune disease where the immune system attacks the body’s own tissues and organs, primarily the salivary glands and the lacrimal glands. This impairs the glands’ ability to produce and secrete liquid, the main symptoms are extreme dryness of the eyes and the mouth. Other symptoms include joint pain, extreme fatigue, and in some cases organ damage, specifically the liver and lungs. While there is not a single genetic cause of Sjogren’s, there are genes that increase the likelihood of developing Sjogren’s. The expression of these genes is usually triggered by environmental factors and aging.
The symptoms experienced, their severity, and their causes and triggers varies with each individual. I interviewed someone who has Sjogren’s, and focused in on this particular case in order to get a more personal perspective, and analyze how it relates to the known research on this disease.
- When did the disease start? Was there anything in your environment that changed?
I was diagnosed early last year, but I have had symptoms for a couple of years. The joint pain didn’t show up until like 8 months ago, but I’ve had dry eyes and dry throat for about 2 years. I can’t remember if anything specific in my life triggered the symptoms, it was just a natural progression. I first got joint pains when the seasons were changing, and they got worse because I wasn’t getting much sleep.
- How does the disease affect your day to day?
I’m exhausted and tired all the time, and that affects me because I don’t do anything when I’m tired. It makes it hard to commit to things because I don’t have the energy to consistently do those things. Similar to the dry mouth, fatigue can’t be treated the same way a normal person would treat it. I can get a lot of sleep or drink a lot of caffeine, and I’m still tired. Flares come and go. The dry mouth is chronic but not all symptoms are chronic.
- What do “flares” feel like?
During a flare up, you feel like you’re really, really thirsty and you can’t make it go away. You’ve already drank all the water you possibly can, but the back of your throat burns because of how thirsty you are. The knee joint pain is like a balloon in between the joint and the kneecap and it’s expanding, but the space it’s in isn’t changing. So there’s a lot of pressure building up. Sometimes they flare up more often depending on the time of year. I don’t know why, but it’s worse when it’s cold out and when the seasons are changing.
- Does Sjogrens or any other immune diseases run in your family?
Sjogrens doesn’t run in my family, but immune diseases do. My mom has lupus, and my sister has endometriosis. Lupus and Sjogrens have genetic links, and both are rheumatoid diseases.
- Has treatment been helpful in improving your quality of life? Which treatment route has proven most effective for you?
I take hydroxychloroquine, which helps with energy and joint pain, and the chronic dry mouth and dry eyes. I still have fatigue, pain, and dry mouth, but the dry eyes symptom has mostly gone away. One of the best things about the medicine is that before I couldn’t crouch or squat or anything because my knees wouldn’t support my weight, but now my knees are good enough to crouch. My rheumatologist has suggested physical therapy for my joint pain (which is in my knees and hands), and frequent exercise. I’m not doing that, but I should because I think it would help.
- Although it’s not life-threatening, has sjogren’s impacted your view of your future? Does the disease feel maintainable?
Well, I can’t become an astronaut or join the army. But other than that, I don’t think it’ll impact my whole life dramatically. I won’t have a super active lifestyle, but I didn’t have that before anyway. With treatment, it does feel maintainable. One goal I have is to be consistent with exercise and physical therapy in the future.
- If you could not have the disease would you?
Obviously I wish I didn’t have to deal with it, but I don’t think I’d get rid of it. I am a bit insecure about being different than other people, especially when it comes to physical activity, and not being able to do everything that everyone else can. But I am glad that I have the experience.
- Because immune diseases typically run in a family, and it does for you, would you want to change your child’s genome if you had the opportunity to find out with future technology?
Maybe, I don’t know. I don’t want my kid to feel the negative things I felt, but it is manageable and treatable. I’d rather just have them come out the way they’re supposed to.
Onset of the Disease
Sjogrens usually starts in early adulthood, with a slow, gradual onset. Certain environmental factors have been identified as of increased risk of developing the disease. The main cause is an infection or sickness of some sort that triggers the immune system to fight off the foreign threat to the body. Some other factors include stress, low vitamin D levels, and pollution. It is most likely that Sjogren’s develops when the immune system, due to an imbalance and/or genetic predisposition, starts attacking the body. The person I interviewed doesn’t recall anything triggering the symptoms, but it is likely that something in her environment did. She said that her joint pain started when the seasons were changing and she wasn’t getting much sleep. Changing seasons could be associated with allergies, which is known to make symptoms worse. She said that she wasn’t very active before, and wasn’t getting sleep, which can lead to low vitamin D levels if she wasn’t getting outside, and stress because of lack of sleep. Because the progression was so slow, it is hard to pinpoint a specific thing in her life that caused it.
Because Sjogrens is a very complicated disease with many causes, most avenues of treatment for patients involve multiple approaches. There is limited research and knowledge on the genetic/root causes of the disease, so most medications focus on alleviating the symptoms and improving quality of life rather than addressing the heart of the problem. That’s what hydroxychloroquine does, which is the medication taken by the person I interviewed. Hydroxychloroquine is actually a medication designed to treat Lupus, but because of the similarities in symptoms of Sjogren’s and Lupus, it is used to treat both. That is the case with a lot of medications for Sjogren’s, they are often made originally for Lupus or Rheumatoid Arthritis. My interviewee was also suggested to take physical therapy for the joint pain. Other things can improve the symptoms like getting enough sleep, eating well, and frequent exercise.
Genetic Links Between Sjogren’s and Lupus
Three of the six main genes known to be associated with Sjogren’s are also associated with Lupus. These genes are IRF5, STAT4, and TNIP1. IRF5 and STAT4 are gene activators involved in the stimulation of the immune response. TNIP1 is a protein that plays a role in limiting inflammation. Sjogren’s and Lupus are very similar in their root causes – the antibodies detect a part of the body as foreign, and send a message to the immune system to attack that place. The antibodies Anti-SSA (Ro) and Anti-SSB (La) are present in 70-80% of individuals with Sjogren’s syndrome, and about 30% of people with Lupus. These similarities in how both diseases function can explain why Lupus and Sjogren’s have symptoms in common. The interviewee said that her mom has Lupus, and her sister has endometriosis. It is likely that her mom passed on some of the genes associated with both Sjogrens and Lupus, making her genetically predisposed to develop the disease. Although endometriosis isn’t a rheumatoid disease or an autoimmune disease, it can be caused by problems with the immune system. None of these conclusions about their genetics can be confirmed unless the family takes DNA tests, but it is very possible that this is true.
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