I walked into clinic one day and found out I had a new African-American patient to see, he had been sent by his primary care physician for what they believed was a problem with alcoholism. But the consult mentioned that his liver enzymes were not in line with that, so they wanted him seen by the hepatology clinic.
I knocked on the exam door and walked into see my new patient, whom I’ll name, Conrad. He was a tall male, 6 foot, somewhat obese, wearing worn jeans, work boots, and a t-shirt that had seen better days.
“Hi, Conrad, I’m Sharon and I’m a physician assistant in the hepatology clinic. How can I help you today?”
“I don’t know. My primary care physician sent me here, something to do with my liver.”
“Well your consult says that they weren’t sure whether your problems with your liver was due to your drinking alcohol or whether it was due to something else. Does that ring a bell with you?”
“Yeah, something like that.”
“Alright, well then why don’t we start with how much do you drink on a daily basis?”
“Umm, one or two drinks a day.”
“No more, are you sure?”
“Yeah, I’m sure. It’s usually just a beer, sometimes two beers a night after work and that’s it.”
“Okay, I’ll take your word for it. How long have you had problems with your liver?”
“I don’t know.”
“Okay, well then let’s start with your medical history, what medications do you take and for what reasons?”
“I’m a diabetic, so I take glyburide and metformin twice a day. I also have high blood pressure so I’m on lisinopril and some sort of thiazide, I think. It’s a water pill.”
“Okay, well that sounds like you’re on hydrochlorothiazide, does that ring a bell for you?”
“Yeah, that’s probably it.”
“No, that’s it.”
“I was looking at your previous medical visits and it looks as though you seem to miss coming into be seen as scheduled by your primary care physician. Why’s that?”
“I have to work. And my appointments , I sometimes forget about, so I end up rescheduling them.”
“Okay, well then, have you had any surgeries?”
“What about your family history, anything there, such as heart disease, kidney disease, or anything else?”
“My dad died of some sort of heart problem when he was about 70 something, my mom lives here and she has some sort of arthritis. My brother died in a car wreck, my sister is fine, I think. She’s younger than I am.”
“And you’re 51, is that right?”
“What are your drug allergies?”
“Drug allergies, what’s that?”
“It means, have you had any problems with any medications in the past such as a drug rash, or swelling of your lips, or anything along that line?”
I finished taking his history and then did his physical exam. He was somewhat obese, and had a slightly enlarged liver (the liver edge was slightly below his right rib cage). I noticed that he had dirt and grim under his fingernails, his hands were coarse, which lead me to believe he was some sort of a manual laborer. Other than this, he exam was normal. I ordered a complete work-up for his elevated liver enzymes as well as an abdominal ultrasound of his liver. I then gave him a follow-up to come back in and see me in six weeks.
Patients who have elevated liver enzymes have inflammation of their liver cells (hepatocytes). It is up to us, the clinician to figure out why the inflammation exists. It can be caused by alcohol, fat storage, copper storage, viral diseases (hepatitis A, B, or C, epstein-barr, cytomegalovirus, herpes), auto-immune disease (patient’s immune system is attacking itself), liver cancer, metastatic cancer, iron overlaod (what is called hemachromatosis), adverse drug reaction, biliary disease (the bile duct that drains the liver), liver abscess, glycogen storage diseases, alpha-1 anti-trypsin disease, or cirrhosis.
So we have to do a complete work-up on these patients which includes blood work to assess for auto-immune disease, genetic diseases, iron studies, viral serologies, as well as blood counts (which tells us their platelet counts, their clotting factors, and level of hemoglobin/hematocrit). Then the ultrasound will show us the size of the liver as well as it’s consistentcy (does it have fatty infiltrates, is it nodular or scarred down, does it have fluid filled cysts).
Once I had all of his test results back, I waited for him to keep his clinic appointment. I wasn’t surprised by the fact that he cancelled the first return appointment and finally kept his second one. I walked into the exam room and greeted Conrad.
“Hi, Conrad, I’m glad you were able to make it into clinic to be seen. I hope all is well with you.”
“Yeah, I’m fine, work is just keeping me busy.”
“Well, that’s good.”
“I printed off copies of all of your labs as well as your ultrasound report, so here they are, you can keep them. Let me explain them to you.”
I went through all of his lab results and explained to him that they showed he had hemachromatosis, or what is also called ‘iron overload.’ His ferritin and transferrin saturation were both quite high, his hemoglobin/hematocrit level was also corresponding high. Putting all of this together explained why he had elevated liver enzymes. Once I answered his questions I then advised him that we needed to get the gene studies done for him which would tell us whether he had one or both copies of the abnormal gene. I also explained that we needed to do weekly blood draws at the blood center until we could get his iron levels down, after that we would be doing blood draws every 2-3 months to keep his iron levels in the normal range.
“Okay, Conrad you also need to let all of your family members know about this so that they can be tested for the gene that causes this disease. That means your sister and your mom. The other thing is you need to stay away from red meats, any over the counter iron supplements which typically come in the multi-vitamins and don’t eat any organ meats. All of these have high iron content in them. Oh, and no more drinking any alcohol, that tends to make this condition worse.”
“Wow, can you write all of that down for me, so that I can remember it?”
Hemachromatosis is a genetic disease that affects 10% of the population, where it shows up in a heterozygous condition (1 normal gene, 1 abnormal gene). In .5% of the population it shows up in a homozygous state (two abnormal genes).
The disease causes patients to have several abnormal results: a high red blood cell count (hemoglobin and hematocrit), high iron studies (ferritin, iron sat, transferrin), abnormal liver enzymes, and then on physical exam they can h ave: increased skin pigmentation, diabetes, arthritis, impotence, enlarged heart, weakness, fatigue and abnormal cardiac rhythms on their EKG reading.
The long term consequence of this disease (if it is not treated correctly) can be liver cancer, cirrhosis of the liver, enlarged heart (which usually shows up as heart failure), and mortality from their diabetes.
“Alright, well here is your lab slip to have your gene studies done, I’ve already faxed in your orders to the blood center for them to do your weekly blood draws, so here’s their number to set up your times. I’ll see you back in six weeks, at which point in time we should be able to figure out how frequently we need to schedule you for your long-term blood draws. I’ll see you then, do well until then.”
I wasn’t surprised to hear from the blood center a few weeks later that Conrad had missed two of his appointments and they therefore needed new orders faxed over. He also missed his six week follow-up with me. Conrad finally showed up almost 3 months after I had seen him.
“Hi, Conrad, I’m glad your back in clinic. I have your blood draw from this morning and it shows that your hemoglobin, hematocrit numbers are now down in the low normal range. Your iron studies show that they are now in the low range. So I think we can set you up to have your blood drawn at the blood center every 3 months, so that’s good. Your gene study came back and showed that you have one copy of the abnormal gene, which is what we can a heterozygous state. I hope you told your sister and mom to be tested.”
“Okay, well then I’ll fax in your new order over to the blood center, you can call and set up your time and then we’ll see you back here in 6 months. Does that sound okay with you?”
“Yeah, that’s fine.”
“Alright, well then I’m glad to see you again.”
We as clinicians have to work with our patients who are non-compliant with either being seen in the clinic, or non-compliant with their medical regimen. We have to figure out what it is that is making them non-compliant. It could be they are unable to make it into clinic or take their medications for an assortment of reasons. For us, as clinicians we need to figure out the patient’s why so that we can help them increase their overall health. Many times this involves doing intensive patient education, discussing their concerns to figure out what it is that drives their health choices,and then giving patients positive re-inforcements and/or encouragement.
Once I had figured out the reason for Conrad’s non-compliance (he needed to keep his job so as to pay his bills) then I was able to understand his being a no-show in the clinic and was willing to re-write his blood center orders for him when needed so that he didn’t suffer any of the long-term consequences of his disease.