All in the family: My dad's history with ET

Dad in 1953, ET-free

Someone recently asked me if my dad, who also had essential thrombocytosis, died from complications of ET. The short answer is "no." Dad was already sick with end-stage COPD when he was diagnosed in his 70s.

However, the way his ET was managed and the lack of info about his disease at the time might be of interest to others, so here's his story:

Dad's ET diagnosis started with a small blood clot in his leg. The COPD made it very difficult for him to do any exercise, and his circulation was poor. The blood tests done when the clot was diagnosed showed that he had a platelet count in the 800s.

There were ET symptoms before Dad developed the clot, but they were chalked up to his COPD. He was extremely fatigued--as are most people with COPD. And his abdomen was swollen, which he thought was persistent gas from not being able to exercise. Did he have an enlarged spleen from the ET? As far as I know, it was never tested, but it made breathing more difficult.

Like Dad, many patients with ET are not diagnosed until they develop a blood clot. Dad was put on warfarin for the clot, and then sent to a hematologist, who did more blood studies and a bone marrow aspiration/biopsy to rule out leukemia. The hematologist tested his blood every couple of months to monitor the platelets.

The hematologist assured Dad that he did not have cancer. ET was, at that time, called a myeloproliferative disorder, along with PV and MF. It wasn't until 2006 that the World Health Organization renamed and reclassified these diseases as myeloproliferative neoplasms, i.e., blood cancers. He said Dad might have to take chemotherapy for the ET if his platelets went up more. This was very confusing to Dad and my mother because chemo = cancer in their minds, raising all kinds of images of ports and IVs and nausea.

When Dad's platelets went up to over a million, he was also freaked. That's because he didn't understand that a platelet count of 800 means 800,000 platelets per mcL of blood. He was sure he was dying until the hematologist explained it, and he was also reassured when he only had to take "some kind of pills," which turned out to be hydroxyurea, to reduce the platelet count.

The hydroxyurea didn't immediately take down his platelet count below 800 or 900, and he was switched to anagrelide. Through confusion on someone's part, he was, at one time, taking both hydroxyurea and anagrelide.

While the platelets stayed in neighborhood of 800-900, Dad's swollen abdomen subsided, possibly a function of the ET medication. Fatigue worsened, but, again, that was chalked up to the worsening COPD. It seems likely in retrospect that the anagrelide or the ET itself might have made the fatigue worse.

What caused the ET? At that time, no one knew, or at least no explanation was given. I didn't realize how rare the disease was until I was diagnosed with it last year. I was shocked. It was like two people in the same family being struck by lightning. When I asked my hematologist if ET ran in families, she said that ET is caused by a mutation that occurs after birth, that is, it's not hereditary.

There are two theories about why members of the same family might have the same MNP. One is that there may be some as-yet-undiscovered predisposition to developing the mutation that is hereditary. A second is that there is some environmental cause for the mutation. Was the fact that Dad moved at age 25 to a town with a chemical plant, the same town where I was born and raised, significant? These were the "olden days" before the EPA and regulation of industrial effluence. We may never know if there was an environmental cause, but it was one of the questions on my intake questionnaire at the cancer center.

Meantime, because of the clot risk Dad was kept on warfarin after the clot dissolved. The warfarin caused at two severe GI bleeds requiring hospitalization. His skin bled very easily, and he went through a bone infection that finally required surgical resection when a wound vac didn't work.  He also developed some mysterious mouth and throat sores that doctors said were not thrush (which is a common problem for COPD patients on inhalers). And he had occasional nosebleeds. If any of these symptoms were the result of ET or the anagrelide, nobody put two-and-two together.

Dad was in end-stage emphysema for about a decade. After a persistent lung infection, that sent him to the hospital, he asked to go on home hospice care. Nurses continued to monitor his platelets, but when his levels dropped to 700, he discontinued testing altogether. I believe Dad continued to take anagrelide for ET. He continued to be plagued by mouth sores, sore throats, and bleeding occasionally, though he had been off warfarin for quite some time.

Generally, however, like many hospice patients, Dad's quality of life and outlook improved for some months, even though his COPD continued to worsen. He no longer had to worry about lab appointments, doctor appointments, or going to the hospital for tests. He was comfortable at home, and a nurse came in two or three times a week to see what he needed. Dad was a terrible tease and flirt, and his nurse was a pretty young woman who knew how to take his ribbing and throw it back at him.

Almost a year to the day that dad went on hospice, he developed another lung infection, and the mouth and throat sores came back. This time they were quite severe, and eating and swallowing was very painful. I went home to be him and my mother during his final week. The infection made him feverish and extremely weak, but he was in good spirits during the day. In the evening, he would became delirious and sometimes upset. He gradually fell into a deep sleep until he slipped away on a rainy afternoon a week before his 83rd birthday.

Dad didn't know much about ET, and not much was explained. But he was diagnosed before 2005, when the JAK2 genetic mutation that causes MPNs was discovered, so perhaps there wasn't much that could be explained. The object then--and still is--to keep the platelets down in order to reduce clot risks. We all kept on top of the latest medications for the COPD, but the ET was considered mostly a side issue, more of a nuisance.

How might the ET have worked with the COPD to make Dad sicker and weaker? That's something that I wish I knew more about.  The COPD masked or was blamed for most of his symptoms, and while I wouldn't have wished Dad to have been plagued with testing he didn't want in his last year of life, I would like to have known more about the progress of his ET.

In the final analysis, ET wasn't considered to have played a role in Dad's death. But given the bleeding, mouth sores, and abdominal swelling, knowing more about ET might have helped us make him more comfortable. Like Dad, many ET patients, especially those of us diagnosed in late middle age, also have other health problems. I hope that, as we learn more about MPNs, we can help them manage their ailments better.

Be well!

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