I walked into the exam room to greet a long time 58 year old male patient of the family practice I was doing some temporary work at.
“Hi, my name is Sharon, I’m a physician assistant helping out in this clinic for a few months. How can I help you?”
“I’m, John, nice to meet you. I here because I just keep losing weight without trying. I’m having a lot of diarrhea, abdominal pain and gas. Every time I eat, I immediately have to go visit the restroom facilities due to another diarrheal episode. I even wake up during the middle of the night and need to use the restroom due to my diarrhea.”
“How much weight have you lost?”
“Fifteen to eighteen pounds so far over about 3 months.”
“Are you having any fevers with your symptoms?”
“Any nausea or vomiting?”
“When was the last time you had a colonoscopy done to look at your large bowel?”
“I just had a colonoscopy done three years ago, it was normal.”
“Do you have any family history of cancer?”
“My older sister had breast cancer, she just died last year, she was in her 60s. Other than that no one else. “
“Do you have any history of acid reflux, in other words do you take any medications like prilosec, zantac, or nexium?”
“What about smoking or alcohol history?”
“I’ve never smoked and I only occasionally drink a glass of wine with my dinner.”
“Okay, good. What medications do you take?”
“I only take a blood pressure medication, I think it’s called lisinopril?”
“You would be correct. Lisinopril is a blood pressure medicine. Any other meds?”
“No, I just put some hydrocortisone cream that comes over the counter on my elbows and knees every once in a while when my itchy skin becomes unbearable, it helps a little bit.”
“Do you have any other medical history besides your problem with blood pressure? “
“Have you had any surgeries?”
“Oh, yeah, I had a hernia repair about 20 years ago and I had my appendix take out when I was a kid.”
“Are you staying hydrated, drinking plenty of fluids every day?”
“Yeah, with all this diarrhea, I’ve made sure to drink plenty of water every day.”
“Do you ever look at your diarrhea in the toilet water before you flush it away?”
“Once or twice I did.”
“Did the diarrhea stools float on top or sink to the bottom of the toilet?”
“Now that you mention it, they floated.”
“What do you typically eat during a 24 hour time period?”
“Nothing unusual. Cereal for breakfast with my coffee, a sandwich and fruit for my lunch and then usually meat and potatoes with a salad for dinner. But lately I haven’t wanted to eat much of anything due to my having so much diarrhea.”
“How many stools per day do you typically have?”
“Hmm, let me think. Hmm, probably about eight a day.”
“Okay, why don’t you sit up here on the exam table and let me listen to you.”
Once he got up on the exam table, I listened to his chest, heart and then asked him to lay down so I could do his abdominal exam. His heart and lungs sounds were fine, his abdominal exam showed that he had lost weight (he was gaunt), but he didn’t have any tenderness or masses felt. I took a look at his elbows and knees and noticed that he had an erythematous rash which was raised with circular macules in groups. The patient said that they were very itchy and sometimes burned.
“Alright, John let’s start with getting some studies done on your diarrheal stools. Do you think you could bring in a sample either later today or in the morning?”
“Okay, well then I’ll have the the laboratory technician give you a container to collect it in and the instructions to keep it refrigerated overnight if you are not able to bring it back in this afternoon. It will take about a week to get the results back, so when you go back out front you can make an appointment to come back in next week to be seen.”
“Okay, thanks for your help.”
“No problem. Just keep drinking lots of water until we get this figured out.”
Risk factors for celiac sprue disease include:
--genetic disease , typically occurs in Caucasians of northern European origin
Typical presenting signs and symptoms of celiac sprue include:
--anemia (low red blood cell count, which are responsible for carrying oxygen from the lungs to the tissues/cells)
--osteoporosis (low bone density)
--arthritis (inflammation/pain of joints)
--kidney disease (kidneys are responsible for creating a person’s urine)
After he left I went back and advised the laboratory technician of the stool studies I needed done when he brought his sample back in. I ordered electrolytes (sodium, potassium), stool fat, fecal white blood cells (which would tell me whether his diarrhea was of an infectious etiology) and stool osmolarity. A few days later his results came back and showed that he had a high fecal fat concentration, no white blood cells, with normal electrolytes. So I knew I was dealing with a malabsorption disorder. This could either be from his pancreas or it could be celiac sprue disease.
Seeing that he didn’t have a history of heavy alcohol use I doubted he was having problems with pancreatic insufficiency. So this left his having celiac sprue disease as being the most likely diagnosis.
John returned to clinic 2 days later and I told him what I was thinking and to confirm whether he had celiac sprue disease I would need to order some antibody testing (a blood test) along with a complete blood count (patients with celiac sprue disease can have anemia, or a low blood count due to their malabsorption).
John understood and had the blood testing done. I explained to him the diet requirements of a patient who has celiac sprue disease. It involved staying away from any food that included gluten (which is the external portion of wheat protein). I gave him several internet sources for patients who have celiac sprue disease.
“I’m going on vacation to Florida for the next two weeks,” John stated. “So I’ll make an appointment to see you after I get back.”
“Alright, enjoy your time in Florida with your family.”
A few days later I received his lab results back. His endomysial antibody was positive as was his IgA anti tissue transglutaminase. He was slightly anemic (i.e. had a red blood cell count that was just under the normal range). So I hoped that his changing his diet was working to address his symptoms. With these positive lab results, it told me that his skin rash was another typical sign of celiac sprue, dermatitis herpetiformis.
Diagnosing celiac sprue is done through:
--blood testing for the two antibodies involved which are IgA endomysial antibody and IgA tissue transglutaminase antibody. (Both of these antibodies are immune globulin A related, i.e. IgA. The second antibody is against an enzyme which breaks down glutamine.)
--pathological biopsy of the patient’s skin rash which has to come back showing dermatitis herpetiformis or acquiring a biopsy of the inner layer of the small intestine which will show flattened villi (the villi are what are responsible for absorping food nutrients).
A little over two weeks later, John re-appeared in clinic with his wife.
“Sharon, this is my wife, Linda,” said John.
“Hi, nice to meet you,” I said.
“Well, John I have your test results back and they show what I was expecting, you do indeed have celiac sprue disease.”
With that I proceeded to hand him the lab results and pointed out the positive antibody testing as well as his slight anemia.
“With these positive results, it means that your skin rash which is so itchy and bothersome to you is a skin disorder that is related to celiac sprue disease. It is called dermatitis herpetiformis. As you get your celiac disease under control, your skin rash will go away. Or I can give you a medication to make it go away quicker.”
“No, that’s okay, I don’t need anymore medications to have to take every day.”
“I have all that information you gave to John the last time he was here and we’ve been pulling off all sorts of additional information off of the internet about celiac sprue. I’ve really tried to help him adhere to the gluten free diet, but it’s not easy. I’m getting really good at reading food labels these days,” stated Linda.
“I can just imagine that it is a major change in your diet these days. But tell me honestly, John how are your symptoms now?”
“My diarrhea is almost gone, I only have 1-2 loose stools a day now. The abdominal discomfort I was having is gone. And Linda says that I haven’t lost anymore weight, but I certainly haven’t gained any back either. I think I’m beginning to feel better, I’m not as tired, I know that.”
“Well then you’re making some progress. But staying on a gluten free diet is hard. So let me make a referral for you to see the nutritionist over at the hospital. She can help you come up with meal plans, food items to buy and give you some additional resources that you haven’t come across as of yet.”
Linda stated, “that’d be great, I need all the help I can get.”
“Okay, John now one more thing is that most physicians would advise you to see an gastroenterologist (digestive disease physician) so as to undergo a endoscopy, which is where they put you to sleep and then put a scope down your swallowing tube, into your stomach and then on into the first portion of your small bowel. It’s in the small bowel that they can acquire a biopsy of your bowel wall which will show the pathological changes seen with celiac. This is the gold standard for diagnosing celiac. Other than that I can send you to a dermatologist (a physician who specializes in skin diseases) and have then take a biopsy of your skin rash. If the skin biopsy comes back positive for dermatitis herpeteformis then this would also seal the deal and tell us with 100% certainty that you have celiac. But doing either one of these is up to you.”
“Neither one of them sound like much fun to me. Based on the lab results and my response so far to my dietary changes I do believe I have celiac. Therefore, I’m not going to do the biopsies,” John said.
“Okay, well let’s see what happens with your continued adherence to a gluten free diet. It usually takes several weeks before you will have total resolution of your symptoms. Meanwhile, I do need you to begin taking a multi-vitamin every day, this will address your anemia. Make sure it has some iron in it, because your celiac disease has mad you slightly low in iron. How about coming back into clinic and seeing me in a few weeks after you’ve seen the nutritionist and had some additional time to change your diet. We can also repeat your blood work then and make sure that your anemia is gone.”
“That sounds fine. So I’ll see you in a few weeks.”
Typical treatment for celiac sprue involves:
--nutritional consult, the nutritionist can go over a gluten free diet (patients have to stay away from wheat, barley, rye and oats, or any food product that has these elements in it). They also give the patient internet sites, cookbooks for gluten free diet eating, etc.
--blood work to assess for vitamin/iron deficiencies due to the patient’s inability to absorp the necessary nutrients.
--medication to take care of the skin rash (if the patient requests it).
--treatment of other symptoms such as their kidney involvement, infertility problems, arthritis, etc.
Six weeks later, John returned to the clinic. He had come in the previous day to have his blood counts drawn and they showed his anemia was gone, which I was happy about.
I walked into the exam room and greeted John.
“Hi, John, how’s life treating you these days?”
“I’m better. My wife and I met with the nutritionist twice and she has been really helpful with Linda, going over meal planning and the like. My diarrhea is totally gone. And I think I even gained 3 pounds. But staying on a gluten free diet is not easy, that’s for sure. Oh, and look my skin rash is even getting better.”
“Wow, I’m totally impressed, I have to admit it. Good for you, John. You came in yesterday and got your blood work drawn, which shows your anemia is now gone, so you can stop your multi-vitamin.”
“Well, unless you have any other problems with your celiac disease, I don’t think you need anymore follow-up.”
Over the next few months, John continued with his adherence to a gluten free diet and slowly started putting weight back on. As he did, his usual energetic zest for life returned.