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HOW THE ZEBRA GOT ITS STRIPES


Recently I crossed paths with a dear friend. When I asked after his health, he wove a tale of woe. He had suffered repeated ankle sprains, twice in as many years. The man is, in his mid-70s, at an age when the tendons become more lax. His largely sedentary existence has caused a smidgen of weight gain especially around the middle, which puts an extra strain on the ankles. I asked him how he had twisted his ankle. Was it playing Frisbee with his dog, or perhaps hiking with his wife? 

"Funny thing is, I don't remember injuring my ankles at all. I just woke up one morning and could hardly walk."

"Did you say ankles, as in plural?" 

"Yes, first my right, and then my left. I am just now finally getting over the left sprain."

"How do you know it was a sprain?

"The MRI said mild sprain."

"How long did it take you to recover from these sprains?"

"About eight weeks. I could hardly drive my car when the left one was out. The clutch was just too stiff. I've been Ubering all around town."

"Lucky Uber. You mean to tell me you were out eight weeks with a mild sprain?"

"Hmmm, hmm," he said, nodding his head. "Ten weeks the second time. It's week 11 and I only started driving again last Friday."

"No break."

"Nope."

"Hmmm..."

He told me his ankle had been red and swollen and tender to touch. Had he been suffering any other symptoms, like weakness, fatigue, morning stiffness? He shook his head. "Only thing is when I get out of the shower my skin itches a bit. And you know how I've always had reflux? It's been getting worse." He gave a rueful shake of his head. "I'm just bracing for the next time my ankle goes out. Could be any day, for all I know. Third time will definitely not be a charm."

Back to back ankle sprains separated in time by a year and involving both feet, without any frank insult, and with symptoms out of proportion to radiographic findings. This did not sound like an ankle sprain to me. I wondered if he had suffered a blood clot in one or both of his legs. A desk job such as my attorney friend's can predispose to the development of thrombi, particularly in the lower extremities. With no way back to the heart, blood pools around the ankles and can be very painful, even so far as to mimic the effects of an ankle sprain. 

"They tested for a DVT," my friend told me. "Negative."

My thought at this point was arthritis. There are various types. Rheumatoid arthritis is a systemic disease with an autoimmune component that usually involves multiple joints, especially of the hand, and these patients characteristically present with morning stiffness. Gouty arthritis often involves one joint, especially the first toe, which becomes red, hot, and swollen, but it can occur in the ankle and jump joints.

"How can I have gout," said my friend, "when I don't eat gouty foods?"

By gouty foods he meant foods high in purines, particularly meats and seafood. The purine content of food reflects its nucleoprotein content and turnover. Foods containing many nuclei (like organ meats) have many purines, but rapidly growing foods such as asparagus, spinach, cauliflower, mushrooms, as well as beans, peas, and lentils, and of course yeast-containing foods such as bread, which my friend loves, are also high in purines. I let this slide for a moment. A simple blood test can detect rheumatoid arthritis with a high degree of reliability, but to diagnose gout, and its sister by another mister illness, pseudogout, requires sticking a needle in the joint, and my friend dislikes needles. 

But my friend had no history of gout, and since his diet has been the same for most of his life, which is all of mine, I doubt that new-onset gout was due to food, or if he had gout at all. But a more complicated picture was beginning to present itself. Newish onset of arthritic pain in both ankles, with vascular changes suggestive of a circulatory disorder (the thrombosis was ruled out, but my friend complained of increased swelling with positional changes) plus itchy skin on exiting the shower, which was also new. 

I asked to see his legs. He pulled up his pant leg and pulled down his socks. Sure enough he had no hair around his ankles. His leg hair, which was generous, abruptly stopped mid calf. Hair loss in a sock-like distribution is suggestive of atherosclerotic changes in the small vessels supplying the leg and foot. I had learned in medical school that this finding, along with a patient's complaint of claudication, or pain in the calves on walking which is relieved by rest, is a harbinger of cardiovascular disease. Claudication is like angina, or chest pain, only it affects the legs. But my friend told me that like his father he's had no hair on his legs since he was in his twenties. So if this was an indication of atherosclerosis, it was long-standing and likely not the cause of his circulatory disorder. So what was, and how did ankle swelling relate to his ankle pain?

I asked if he had had any blood work done recently. He showed me lab tests from the previous two years. I looked at his CBC, or complete blood count, and a slew of abnormal values jumped off the page. His white cell count, platelet count, and red cell count were all elevated in 2014. Without symptoms, I could understand if such a finding were overlooked or chalked up to the effects of dehydration (or what doctors refer to as hemoconcentration). In 2015 his platelet count had fallen back to normal, but his white count and red cell count were still quite high. Had he been fighting a chronic infection? If so, then why was his red count getting even higher? This can sometimes be seen at high altitude, when the body responds to rarefied air by producing more oxygen-carrying erythrocytes (red blood cells). But my friend lives at sea level. So why was his hematocrit (percentage of red blood cells in blood) greater than 60% when anything above 50% is abnormal? 

Elevation of several blood cell lines screams one thing: blood dyscrasia. Or to use a more familiar if also more intimidating term, leukemia, which is a form of cancer. It is strange that the condition should present with ankle pain. This is what on the wards we'd call a zebra. In a world of horses (ankle sprain being the most common cause of ankle pain, just as horses are more common than zebras) zebras often get missed. And this particular zebra has a medical name all its own. 

Polycythemia vera is an acquired myeloproliferative disorder that causes overproduction of all three blood cell lines (red, white, and platelets), most prominently the red blood cells. It is distinguished from other blood dyscrasias by the elevated hematocrit, since most leukemias typically affect white counts only. With PCV as with other leukemias, patients typically complain of headache, dizziness, blurred vision and fatigue. My friend was spared these symptoms. But another common finding is pruritus, or itchiness following exposure to warm water, which is believed to be attributable to histamine release from extra basophils, a type of white blood cell. Histamine can also contribute to peptic ulcer disease, which is also more common in PCV sufferers.

The condition occurs at around 60 years, in more men than women. And the biggest complications are, paradoxically, both bleeding and blood clots. Too many red blood cells can bleed out, or get lodged in vessels and cause a blockage. In fact sudden death from heart attack or stroke has been known to occur without prompt treatment. PCV is caused by a genetic mutation that is likely environmental, meaning exposure to ionizing radiation or chemicals in food rather than something that is inherited from one's parents. Which is a relief to me, since the friend in question is (true confession) my father, and I have taken the license of dramatizing the story somewhat for effect.

A blood dyscrasia can be easily overlooked as a zebra in a world full of horses, but PCV explains all three abnormalities seen in my father: viz, the elevated hematocrit that is its hallmark feature; the circulatory problems due to highly viscous blood; and even the ankle pain that masqueraded as a sprain and which was in reality gout. Because an unchecked proliferation of blood cells is counteracted by their rapid destruction, which floods the blood with the very purines my father said he doesn't eat. The uric acid that is formed precipitates in the joint space in the form of crystals, and these crystals cause the characteristic pain and immobility of arthritis, which unlike a mild ankle sprain, can persist for months without treatment, as it did in my father.

So what is the treatment for PCV? Phlebotomy. Patients need to get regular blood draws (500 ml removed per week) to lower hematocrit, which reduces the risk of clot, and also lowers the uric acid levels, minimizing the likelihood of a gouty recurrence. A diet low in iron will also discourage the production of excessive red blood cells. Drugs may not even be needed to manage the disease, which has a median survival of 20 years. But if so, hydroxyurea is on hand.

Only about 5% of cases progress to acute leukemia, which itself is becoming increasingly more treatable. Where once patients could only hope for 3 or so years, new agents have doubled the extended lifespan, and the prognosis is continuing to rapidly improve as new therapies emerge. 

But first, phlebotomies. So dad, get used to needles.



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