A Case of Fatigue
A very thorough physical examination is not always necessary but in a difficult case it can be indispensable.
Denise, Ben Kaplan’s receptionist, was looking over the day’s office schedule as Dr. Kaplan arrived.
“Good morning, Ben,” said Denise. “Looks like it’s going to be a busy one today. Our first patient is almost ready, a 61 year old man with a chief complaint of fatigue. Do you want him in your office or exam room?”
“Good morning, Denise. Exam room please. I’ll be with him in about 5 minutes.”
“Good morning Mr. Lowndes. I’m Dr. Kaplan. How can I help you?”
“Doctor, I’ve been tired for a year. I’ve been to a number of doctors and no one seems to know what’s wrong. I don’t think I’m old enough to be tired all the time.”
“You sound frustrated. Tell me exactly what you mean by tired.”
“I’m just tired. I don’t do physically strenuous work. I’m an accountant. By the end of the day, I just want to lie down but I’m not sleepy.”
“I see from the questionnaire that you have a good appetite, haven’t lost weight, and you don’t take any medications. Are your muscles weak?”
“No. I’m just worn out, tired. It’s hard to get through a day.”
“So, nothing else is bothering you.”
“Not a thing doctor.”
“Mr. Lowndes let’s get you fully undressed. Please take off everything but your undershorts.”
With the patient seated on the examination table, Ben stood behind him. The doctor’s fingers felt for thyroid enlargement in the neck and for lymph nodes behind the clavicles. He tapped with his fingers over the posterior chest, noting the quality of sound that was produced. Ben then felt with his fingers for carotid pulses in the neck and firmly pressed the left chest, reading the heart’s impulse and size with his fingertips. With the stethoscope he detected clear lungs and normal heart sounds. Superimposing his hands to form a spade he dug down deeply into the abdomen to detect enlargement of the liver, spleen, and kidneys. Pushing an extended finger into the lower legs he detected no edema. Asking the patient to stand and bend over, Ben inserted a gloved index finger into the anal opening to feel the prostate gland and rectum. He also inspected the patient’s skin. The entire examination was normal except for the skin.
“Doctor, I’ve never had an examination like this. Did it help to tell you what’s wrong with me?”
“Possibly. There are faint reddish spots on your chest and shoulders. They look like tiny red spiders. They’re collections of blood vessels and they can indicate the presence of cirrhosis of the liver. That could be the cause of your fatigue.”
“What do we do next? How do we know for sure if I have cirrhosis? Don’t you have to be an alcoholic to have that? Wouldn’t the other doctors have picked up something as serious as cirrhosis?”
“Not necessarily. Did your other doctors get you undressed? That would be the only way to see these little red spiders. And no, you don’t have to be an alcoholic to have cirrhosis.
“Mr. Lowndes, the liver is a critically important organ. It manufactures all kinds of vital proteins that we need to live, and it detoxifies many chemicals that would otherwise kill us. The liver is also a mysterious organ in that we don’t have one single test that can safely and easily and consistently rule in cirrhosis or tell us if liver function is severely reduced. In that regard, the liver is different than the lungs, the heart, and the kidneys. Even a CAT scan is not sensitive enough to detect cirrhosis in every patient. A relatively new test, ultrasound elastography, can sometimes be helpful in diagnosing cirrhosis but it is not always reliable. A biopsy of your liver would tell us for sure if cirrhosis is present but that can cause bleeding. Sometimes we can look at the results of several different tests that together can point us in the direction of serious liver disease. I want to get records from your other doctors to know exactly what testing has been done. Let’s meet back here in a few days when we have this additional data.”
At home, Ed Lowndes told his wife about the visit.
“Eddie, are you saying that you might have a serious problem with your liver? What could the problem be? Did the doctor think you might have liver cancer? Do you think he knows what he’s talking about?”
“He didn’t mention cancer. He said I might have cirrhosis and that it can cause fatigue. Carol, this man inspired confidence in me like no doctor I’ve ever seen; a tall thin guy with short iron gray hair and a firm handshake. I think you should come with me to the next visit.”
Ed and Carol Lowndes waited for Ben in the consultation room.
“Let’s go over the key results and see what they tell us. Our question is, based on the finding of vascular spiders on your skin, could cirrhosis of the liver be the cause of your fatigue? Blood work showed three abnormalities. Your albumin, a protein made in the liver, is slightly low. Your prothrombin time, a measure of the ability of your blood to clot when it needs to clot, is high; your blood takes too long to clot. This is often the case when liver function is poor, because coagulation proteins made in the liver are necessary for normal clotting. Your platelet level is moderately low. Platelets are sticky little cells that also have to do with blood clotting; they can be low in cirrhosis. Imaging done by CAT showed your liver to be normal. Because that was done 4 months ago, we did an ultrasound of your liver yesterday and it showed the surface to be nodular rather than smooth. The three blood test results could be categorized as “circumstantial evidence”. They suggest the presence of liver disease, but they don’t rule it in. The vascular spiders that I saw on your skin, added to these three blood abnormalities make a moderately strong case for cirrhosis. The nodular liver on ultrasound added to these other abnormalities rules in cirrhosis in my opinion,” said Ben.
“What about Ed’s liver enzymes? Weren’t they abnormal?” said Carol.
“Just barely,” said Ben.
“It sounds like you’re telling us that Ed has cirrhosis of the liver. How could that be without really abnormal liver enzymes?” said Carol.
“The standard liver enzymes called AST and ALT that we routinely test for may be abnormal if active liver injury is going on. It might be better if they were called active liver injury tests. They don’t tell us about liver function. Ed has cirrhosis of the liver. It’s fairly advanced and I believe it explains his fatigue.”
“What could be the cause of this? I don’t drink and I’ve never had hepatitis,” said Ed.
“I’m wondering about a condition called alpha-1 antitrypsin deficiency with involvement of the liver. It’s definitely not a common condition but it’s not as rare as we once thought. It’s hereditary. We need to get you checked for that,” said Ben.
“Could Ed be looking at a liver transplant?” asked Carol.
“I think it’s too early for that, but we need to talk about something else first. There is one other test that I did not tell you about and it does not usually occur in patients with cirrhosis unless they are really end-stage and fortunately Ed is not to that point yet. Ed’s potassium level is low. It’s 2.9, down from the lower limit of normal of 3.5. I’m wondering if that’s contributing to Ed’s fatigue. There is a condition that can occur in patients with cirrhosis called renal tubular acidosis. It’s a kidney disease and causes potassium leakage into the urine which can lead to a low potassium level in the blood. This could be extremely important in Ed’s case. Normally the kidneys make ammonia, but they are not a major source of it. When the blood potassium is low, the kidneys increase their production of ammonia which enters the blood stream. Ammonia is a major cause of hepatic encephalopathy which can cause coma and death if it isn’t treated. Ed, you don’t fit the picture for hepatic encephalopathy, but you might have a precursor to it which could be called pre-encephalopathy. It’s much milder than encephalopathy and it might be causing your fatigue. So, let’s get your potassium level up by adding a medication called spironolactone. If what I’m saying is correct, you might feel better,” said Ben.
“Let’s try it,” said Ed.
Two weeks later:
“Hi Dr. Kaplan. I’m thrilled to tell you that my fatigue is reduced! I’m not 100% better, but I might be 75% better. Isn’t that great news?” said Ed.
“That’s wonderful Ed. Your repeat potassium is quite normal at 4.2. Let’s continue the spironolactone. Also, your blood test for alpha-1 antrypsin is abnormally low, so I think that alpha-1 antitrypsin deficiency is the cause of your cirrhosis. That condition is hereditary, so we need to talk about testing other family members”, said Ben.
“Thanks Doc!”