Wednesday, August 17, 2011

A Single Mom with a Genetic Disorder

 I hadn’t been working in the GI practice for long when I went into see a new patient.  Her name was Sandy, a divorcee who was 31 years old, and had two young kids in elementary school.   She was being seen for an auto-immune disease, called Crohn’s.
“Hi, I’m Sharon, I’m a physician assistant.  You’re new to our practice and I see from your medical records that you have a diagnosis of Crohn’s.  How long have you had it?”
                Sandy with her long blond curly hair replied, “I was diagnosed with it as a teen-ager, I think I was about 14.”
                “Okay, so what medications are you on now for it?”
                “I’m on Asacol and Prilosec.  They seem to be working for me right now.”
“Mmm, glad to hear that. When was the last time you had a scope procedure done to check for evidence of your disease?”
                “More than three years ago.  I think the last one was when I was in Nebraska and married.”
                “Okay, well seeing that you’re now 15 years plus into your disease we will need to get your scheduled for an upper and a lower scope of your GI tract.  I would assume you’re familiar with the routine, nothing but fluids the day before, and you swallow a half gallon of go-lytely to clean out your bowels.”
                “Yeah, I know the routine.”

Crohn’s disease is a T cell mediated disease which can affect any portion of the gastrointestinal tract from the mouth all the way through to the anus.  In the upper portions of the gastrointestinal tract (GI) patients can have aphthous ulcers, then in the intestinal tract they can have ‘skip lesions.’
                Skip lesions are areas of involvement followed by areas of the GI tract that are normal.  As opposed to patients who have ulcerative colitis, Crohn’s patients have involvement throughout all 3 layers of their GI tract, in otherwords it is transmural.  It is for this reason that Crohn’s patients can end up having fistula formations, or strictures which necessitates surgery. 
                Patients typically present with symptoms of abdominal pain, increase stools, fevers, weight loss, sometimes even nausea/vomiting. 
                A typical work-up for a patient suspected of Crohn’s disease is to inquire as to whether they have any family members with Crohn’s disease or ulcerative colitis, seeing that both of these diseases typically follow a family lineage.  Patients also get a upper GI with small bowel follow-through, an endoscopy and a colonoscopy.  They have blood drawn to assess for anemia, and liver function tests to look for any hepatic involvmenet.  Patients are then diagnosed based on their pathology findings from their scope procedure and radiographic findings.

                The GI attending in clinic confirmed my assessment and plan, so Sandy was scheduled for an upper and lower scope procedure.  They showed she had some evidence of disease in her esophagus as well as her transverse colon and terminal ileum.  I explained this to Sandy when she returned to the clinic for her appointment.  Dr. Silver decided to put her on prednisone and begin Imuran.  Over the next year she did relatively well on her imuran dosing with prilosec which dealt with her acid reflux. 
With Sandy’s next clinic appointment, I walked in to find an unhappy patient.  “What’s going on?”
I’m in pain, my meds are not working like they should.   I’ve started having abdominal pain again, especially over this part (putting her hand over her right lower quadrant).“  As she touched her abdomen, she winched. 
                “I see.   Let me first do the physical exam and then I’ll have the GI attending in the clinic this morning come in and see you, after which he’s probably going to want to change your meds until we can get your scoped again“
                With that I finished taking my medical history and then did a focused physical exam.  Her abdomen was somewhat tender right over the terminal ileum, a common area for Crohn’s involvement.
                “I’ll be back in with Dr. Silver shortly, Sandy” I spoke as I exited the exam room.
                I went to go find Dr. Silver and presented Sandy to him.  After I was finished, we both walked back into the exam room to see Sandy together. 
                “Hi, Sandy, Dr. Silver stated.  Sharon has presented your case to me.  She told me that you’re having some abdominal pain.  So it sounds like your Crohn’s is acting up again.  With that in mind, let’s switch your medications over to include some prednisone that you take once a day, in addition to what you’re currently taking.  But I don’t want you to start taking the prednisone until after your colonoscopy is done.  So I want to get your procedure done as soon as possible.   I’ll send in the scheduling nurse after I leave.  I want to see you back right after your procedure is done. “
                After answering her brief questions, and giving her a prescription for the steroids to start after her procedure, we sent in the scheduling nurse for her colonoscopy, who got her scheduled for it in two days.   She was also given a lab slip to get her blood drawn.    
                I didn’t see Sandy again until 4 weeks later in clinic.  I looked over the her colonoscopy results as well as her pathology report before I went in to go see her.
                “Hi, Sandy, how are you doing?”
                “Much better.  The prednisone has helped.  My pain is gone. “
                “Well your colonoscopy showed that you have quite a bit of involvement with your Crohn’s.  Your large colon showed involvement basically all throughout it.  And the area that you were complaining of over your right lower quadrant which correlates to your terminal ileum showed that you have quite a bit of inflammation.  So I’m glad that you are on prednisone and that it is working for you. “
                “So am I.”
                After I answered her questions, and did her focused physical exam, I excused myself by saying,
“Well, let me go find Dr. Silver and have him come in and see you.”
                I found Dr. Silver and presented her case and showed him the results of her endoscopy and colonoscopy.  I told him that the 20 mgs of prednisone was working, and she had stayed on her Imuran, Prilosec and Asacol. 
                “Good.  Now based on Sandy’s scope results and knowing how much meds she is on, we need to switch her over to Remicade.  I think she’ll do much better on that IV medication and her disease will respond and she should stay in remission.”
                “Okay, I’ll get her set up in the infusion center for her Remicade.”

                Crohn’s disease is a relapsing/remitting disease.  Patients will times where the disease is quiescent and other times where it is active. 
                Medications that are used for this disease include: mesalamine (either Asacol or Pentasa), steroids (prednisone), imuran, budesonide, methotrexate, and the newer ones out: monoclonal antibodies, Remicade and Humira. 
                Patients are treated with medications based on the severity of their disease, some patients have mild to moderate involvement, others have severe involvement.  Patients are also treated based on their response to medications.  If they don’t respond to one medication, then they can be given a combination of medications or be stepped up to long term immunosuppression with using Imuran, or by giving them the monoclonal antibodies, Remicade or Humira. 
                Patients can also have numerous manifestations of their disease outside of the GI tract.  These include problems with their liver, joints, eye or skin.
                All patients are endoscoped on a regular basis.  This is due to the fact that patients with Crohn’s disease are at a higher risk of colon cancer than the general population. 

                After we went in to go see Sandy together, I gave her the orders for her Remicade as well as her lab request to get her blood counts, liver function testing done.  We advised her to return to clinic and see us again in 4 weeks, which would then be after her first two infusions of Remicade.  I advised her that she could stop her Imuran and mesalamine after her first Remicade infusion.  After her second infusion, I advised her she could taper her prednisone, so that by the time she came back to see us she would have just been on the IV med. 
                Sandy ended up making an appointment to be seen in my hepatology clinic instead of the main GI clinic.  So she ended up just seeing me.  But she was doing well, had tapered off of her prednisone and was just on the Remicade.
                During her third infusion of Remicade, which was at 8 weeks into her new therapy, I was called urgently to the infusion center.   I hurried down there and walked into the center to find Sandy sitting in one of the chairs. 
                Her nurse immediately told me, “Sandy is itching, and her skin has turned red and her ankles are swelling up.  What do you want me to do?”
                “Did you give her the pre-meds of Benadryl and Tylenol prior to her infusion?”
                “Yes, she got them.”
                “Okay, well this is probably serum sickness to the mouse antibody in the Remicade.  So we have to stop the infusion.  Give Sandy another 25 mgs of Benadryl. “
                Turning to Sandy I asked her whether she still had any of her prednisone with her.
                “Yes, I have a few pills left in my purse, why?”
                “I need you to take one of the 20 mgs tablets now.  Then I need you to take one of them tomorrow and then again two days from now.  After that I need you to taper down so that you’re off of them in 10 days.  Do you have enough to do that with?”
                “I think so.”
                “Alright, well we will have to switch you over to Humira instead, which I will have to show you how to do your own injections in the clinic.  So I’ll have to get a pre-authorization done for you to receive this medication, it will take a few weeks.  So hang tight.”
                Over the next couple of weeks I proceeded to get her the medication authorization needed for her to receive the Humira injections at home.  During this time she started having problems again.  She called up and told me that she had doubled up on her Prilosec due to increasing problems with acid reflux and not being able to get her food down.  With this information I scheduled her for the GI clinic where Dr. Silver would be seeing patients. 
                Sandy came into the clinic within two weeks to be seen. 
                “Okay Sandy, tell me exactly what’s going on with your swallowing problems.”
                “I started noticing that I was having problems with my acid reflux again when I was on the prednisone.  I know steroids increase my acid reflux, so I somewhat expected that, but then once I was off, my symptoms didn’t resolve.   In fact they actually started getting worse.  So I doubled up on my Prilosec.  That helped a little bit.  But I was still having problems getting food to stay down, it always felt like it was stuck right here in the middle of my chest.”
                “Alright.  So what are you able to eat now and get down?”
                “Mostly just liquids, some pieces of bread/cereal if I drink a lot of liquid with it.”
                “Well, Sandy it looks as though you’re going to have to get another upper endoscopy done so we can figure out what’s going on.  I’ll finish doing my focused physical exam on you and then I’ll go get Dr. Silver.”
                After doing what I needed to do, I left the exam room to present her to Dr. Silver.  He came back into the exam room and advised Sandy that he wanted to set her up with an esophageal mannometry  (a test where a patient has their muscular tension vs. relaxation of a group of specific muscles assessed).   He told her that he suspected that she was having problems with increased pressure at the gastroesophageal (GE) junction, which was not allowing food to pass through to the stomach.  Sandy came back to clinic after that test was done and saw Dr. Silver again.
                Her test result showed that she had evidence of a ‘nutcracker esophagus.’  This means that she had increased pressure readings at the GE junction and hence her esophagus was not relaxing enough to allow food to pass through to her stomach.  Dr. Silver explained this to her and had her scheduled for a repeat endoscopy.  Only this time they would be injecting botox into her GE junction sphincter which would paralyze the muscles and allow relaxation for food passage.

                There are side effects to the medications patients are put on for their Crohn’s.  In addition there can be complications to their disease manifestations.  These include the complication of having ‘nutcracker esophagus’ which is related to this patient having long-standing acid reflux. 
                One of the side effects of a patient being on Remicade is fever, chills, and serum sickness, which is related to their receiving a mouse related antibody.  So when patients have serum sickness they are  switched over to Humira, which is the same monoclonal antibody only it is derived from human antibody and thereforeit  circumvents the problem with the foreign mouse antibody.  

                During her work-up for her problems with swallowing and eventually getting her botox injections, she ended up scheduling herself back to my hepatology clinic where I saw her again.  She had  received her first several doses of Humira from the pharmaceutical company’s patient assistance program and needed to be shown how to inject herself.  So I went through how to use the self-injector and advised her that she would have to do one every other week at home.  I set her up for a blood draw and for her to be seen back in clinic in 2 months.  Thankfully the botox ended up working and she was able to swallow once more.
                Over the next several months Sandy did very well on her Humira.  She enjoyed the freedom of being able to do the injections at home which did not interfere with her taking care of her two kids and working.  She came into the clinic to be seen every 3 months and to also get her blood work done. 

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