Question

I only need assistance in answering Part 2 questions. Part 1 was included for background information. Please and Thank You!

Part I – Infertility Issues
Jane sat nervously in the examination room. She had no idea what to expect. Her husband, Brian, gave her a

reassuring smile and squeezed her hand. There was a knock on the door and then it opened to admit the physician.

“Hello, Jane. I’m Dr. Klein and I’ll be doing your fertility assessment today.”

“It’s nice to finally meet you Dr. Klein. This is my husband, Brian.” The two men smiled at each other and shook hands.

Dr. Klein sat down on the stool and opened up a thick file. “Jane, I’ve looked over the medical files that you had sent over to our office and I’ve examined the preliminary blood tests you had done at our office last week. I just need to ask you a few questions, and then we’ll do a quick examination to help me try to get to the cause of your fertility issues.”

“Sure, I’ll answer the best I can. Was anything missing from my medical records?” Jane asked, concerned that she had forgotten to send something the doctor would need. “We’ve been trying to get pregnant for two years and nothing has worked. We both want kids so badly, and a friend recommended you, so I hope you can help us.”

Dr. Klein smiled kindly at Jane and Brian. They were young, and there was no obvious explanation in Jane’s file for her infertility. Dr. Klein’s initial notes about Jane’s medical history and recent blood tests included the following:

• 28-year-old Caucasian female.

• Diagnosed at 14 with Irritable Bowel Syndrome (IBS).

• Diagnosed with anemia in her early 20s; current hemoglobin levels at 7 gm/dl.

• Active lifestyle until past year; used to exercise daily and run half marathons until recent joint pain hindered her.

• Broken wrist last year after a minor fall.

• No history or abnormal pelvic exams or PAP smears.

• Hormone levels (estrogen, progesterone, LH, and FSH) in normal ranges.

• Patient reports her menstrual cycles are not very regular.

• Positive for several classes of autoantibodies.

  Looking up from his notes, Dr. Klein asked, “Jane, have you been able to control your IBS symptoms? Do you still have bouts of diarrhea or constipation despite a healthy diet?”

  “I’ve never really been able to control the symptoms as much as I’d like,” Jane said. “It’s something I’ve just learned
  to live with. I’ve tried all sorts of different diets and nothing seems to help. I felt a little better on the new low carbohydrate diet that people have been talking about, but it was really hard to stick to.” She looked questioningly at her husband, silently wondering what her stomach problems could have to do with her fertility issues.

“When Good Antibodies Go Bad” by Cozine and Gripka Page 1

“One of the things we test your blood for are the presence of autoantibodies. Recent studies indicate that women with infertility problems may have higher levels of autoantibodies in their blood. Your test results show that you are positive for several autoantibodies at levels higher than we would expect in a healthy female.” Dr. Klein could see the obvious confusion on Jane and Brian’s faces. “Do either of you know what antibodies or autoantibodies are?”

Questions

1. Pretend you are Dr. Klein and first explain what an antibody is to Jane and Brian.

2. Relate the basic definition of an antibody to explain an autoantibody in terms Jane and Brian will be able to understand.

3. What are three examples of autoantibodies that can be detected and the diseases they are associated with?

4. Given her digestive problems and the presence of autoantibodies (indicating that her condition is autoimmune), what are some possible diseases (besides IBS) that Jane might have?

Part II – Getting the Diagnosis Right

“I don’t understand,” Jane said looking at Dr. Klein. “What does my immune system have to do with my infertility issues?”

“Infertility can unfortunately be a complication of several autoimmune diseases. Given your history of gastrointestinal issues along with the presence of several specific autoantibodies I believe you may have Celiac Disease. I would like you to see a gastroenterologist to confirm the diagnosis,” Dr. Klein explained.

Brian interrupted, “But I thought Jane has irritable bowel syndrome? Did the IBS cause the Celiac Disease?”

“No, I fear that Jane may have been misdiagnosed with IBS when all along she had Celiac Disease. The two can have similar symptoms, but there are tests that can definitively identify Celiac Disease,” Dr. Klein explained.

“If I get treated for Celiac Disease, will I be able to have a baby?” Jane asked fearfully.

Dr. Klein patted Jane’s hand, “Let’s get the test results back and make sure we understand the cause of your intestinal issues, and then we’ll concentrate on your infertility.”

“I don’t think I understand,” Jane said looking from Brian to Dr. Klein. “You explained to us what an antibody is and I thought they were good, so why would they cause disease? I don’t know how I could have gotten an autoimmune disease in the first place. I’m pretty healthy. I exercise and try to eat right. What could I have done differently?”

Questions

1. Briefly describe what Celiac Disease is.

2. How is Celiac Disease different from gluten intolerance or sensitivity?

3. What specific autoantibodies are tested for in Celiac Disease? What other diagnostic tests will be performed on Jane?

4. Suppose that Jane stopped all gluten intake before her autoantibody tests were performed. How do you think this change in diet would affect her test results and diagnosis?

5. Jane is concerned that she could have prevented herself from getting an autoimmune disease. What are some risk factors for autoimmune diseases in general? Looking at these risk factors, could Jane have done anything to prevent the development of her disease?

6. What hypotheses are often used to explain the trigger/onset of autoimmune diseases?

Answer 1

1. Celiac disease is a type of autoimmune disease in which the ingestion of gluten occurs. This gluten are the proteins that are found in barley and wheat. This ingestion of gluten harm the small intestine and is attacked by its self immune system in the patient's body. This attack by immune system cause damage to villi, which are finger like projection present across the wall of small intestine. It is serious type of disease which take place in people with genetically predisposed.
2. Gluten sensitivity also known as non- celiac disease. Both the diseases are caused by gluten but there is a difference in their conditions and in symptoms. In celiac the villi of the small intestine is greatly affected by the gluten eaten by the patient in the form of wheat and barley or any other gluten rich foods. This damage in small intestine is caused by patient self immune system. However, in the case of gluten sensitivity is these type of villi damage is not found. Symptoms of gluten sensitivity are headache, hyperactivity, joints and muscles pain. while in the former case of celiac disease the patient can have diarrhea, bloating, constipation, vomiting, gas and abdominal pain. moreover, the doctor uses different test starting from symptoms of celiac disease and gluten intolerance. If none of the disease found the doctor proceed with the test for gluten sensitivity.
3. The patient with symptoms of celiac disease , the first effective test would be serologic test. This test identifies the paient's intenstinal biopsy. The test of serologic look for 3 common antibodies: 1) tTG or anti-tissue transglutaminase antibodies 2) EMA or endomysial antibodies 3) DGP or deamidated gliadin peptide antibodies.

Apart from test jane must be posses genetic screening test because most of the people with celiac disease have pairs of genes which encode for atleast one of the HLA ("Human leukocyte antigen"). This is found in ninty five percent of celiac disease patients. Most of the sensitive antibodies test are the class of IgA (i.e. immunoglobulin A). During the antibodies test panel are often used because no serological test is ideal. This type of test report vary from lab to lab. so the panel may be unwarranted. For this reason some labs have developed cascades of test done in their labs. These cascades is being used for minimizing the detract from specificity.

4. The test like serologic is conducted in the patients with symptoms of celiac or sensitivity diseases. This symptoms show the content of gluten in patient's diet. If jane does not add gluten content diet before test, the test result may be invalid. The reason is simple, celiac disease caused due to ingestion of gluten and the test like serologic look for the damages that are caused by these gluten in jane's small intestine by the mechanism of autoimmune. The best prevention of celiac disease is stop eating gluten rich foods. if she does not add gluten presence food before testing, the body of jane starts healing very quickly. On a final take, if she doesnot add gluten in her diet before test, the result of test will be negative but this does not mean she has not celiac disease. so it is adviced to take gluten content foods before test for celiac disease.

5. Risk factors that are associated with the case of jane's are:

• This type of disease can be spread genetically to other family member in the forthcoming time called as dermatitis herpetiformis
• Jane could have type 1 diabetes over the time
• Autoimmune thyroid disease
• addison's disease
• down or turner syndrome
• Lymphocytic or collagenous colitis also known as microscopic colitis

The first and fast step she could do as a preventive measure, she should immediately stop adding or eating gluten content foods into her diet. This type of autoimmune disease is primarly caused by the ingestion of gluten which damage the villi present along the wall of intestine. Autoimmune disease may cause serious problem with multiple organ failure due to the attack done by natural antibodies i.e. immune system by considering self organs as a foreign invaders. So as a preventive measure jane must stop gluten content foods in her diet. By changing her lifestyle and diet plan, she can be fine over the time and this will help her fertility too.

6. Most of the autoimmune diseases is suspected to loss of self tolerance of a body. Often infection is considered as a onset for autoimmune diseases. however, beside infection there are major other reasons also that cause onset of autoimmune diseases. Factors like environment has been proposed that trigger such diseases. This environmental factors are stress developed due to climatic change, smoking habit, occupation and most importantly irregular diet. However, there is still non avaiability for findings of mechanism of such factors. Gaining further any sort of mechanism or plannary action would ligjht further development in understanding such diseases in future. Moreover, adulthood is also considered as a factor that trigger the chance of autoimmune diseases. Over the time when we get above 40 or for female after menupause, it is often seen lack of proportional diet that body need. Proper diet is the key to live healthy life. During early stages of life, our body has enough strength and immunity but after reaching some sort of age our immunity decreases and needs extra care and nutrients to sustain better functionality. Stress and change in lifestyle is also main factor that trigger the chance of it. There is lot more research is needed in this field becasue according to the stats autoimmune diseases are rising over the developed countries.