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When a diagnosis is off everyone’s radar screen
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I have recently had several cases where a diagnosis of hemophilia seemed to be off the radar screen.
Case #1
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“I have a little bleeding problem.”
“What do you mean you have a little bleeding problem?”
“Well, I.…”
“Okay, how many units of factor VIII do you take at each dose?” I asked. I took a chance with this question, and came right out with it, hoping to prod my patient into telling me the whole story. He was a young, burly army recruit straight off the streets of Philadelphia, and I was a young army major assigned to Fort Dix at the close of the Vietnam War in 1972.
“Well, I usually get 3,000 units several times a week.”
I could not believe it, but it was true. This hemophilic man had been inducted into the army.
“My recruiter said not to mention it, but after one day in basic training, I saw this was not for me.”
Indeed, it was not. The army regulation stated that if it found a recruit had a prior disability within six months of his or her entry into the service, the army had no medical responsibility. The recruit could be discharged. If it did not find out within six months, then the army was committed to lifelong care and treatment.
Certainly there were multiple factors at work in this situation. The recruiter was looking for another inductee. The recruit either wanted employment or truly wanted to join the army. Maybe he thought that through the army he could get lifelong care. Quite possibly, either the recruiter or the recruit, purposely or not, did not realize the full implications of the hemophilia diagnosis, making the “problem” off their radar screens.
Case #2:
About ten years ago, I was called on a Sunday afternoon to see a 30-year-old comatose woman in the ICU who had an intracranial bleed after a car accident and head trauma. I knew her parents, and they had urged the trauma team to call me in consultation. Their daughter had mild von Willebrand’s (vW) disease, although her exact subtype was unknown to them. The surgeons and others involved in her care were aware of her von Willebrand’s disease, but had not taken it into consideration in her medical management. Here the case was off the radar screen of the treating physicians.
Except for a few mildly affected patients treated with single doses of DDAVP, I had not cared for a patient with von Willebrand’s in a long time. New Jersey had established a hemophilia treatment center in New Brunswick, which worked and still works very well under the able leadership of Dr. Parvin Saidi, who is the director of the New Jersey Regional Hemophilia Program. Almost all bleeding disorder patients in New Jersey are treated there. Any such patient who shows up in our emergency department is given a single dose of the appropriate factor, and whisked away to New Brunswick.
So, there I was on a hot summer Sunday with a comatose, bleeding von Willebrand’s patient in the ICU. The medical library was locked up. What was I to do? I turned to my able assistant, the UpToDate computer program. Most of our readers know what a great asset this is to practicing physicians. Innumerable medical topics are reviewed in this program by internationally known experts. At present, the topics are updated every four months. Our hospital administrators thought that using UpToDate improved both the quality of patient care and the bottom line so much, that they had it installed on every computer in the hospital system. Within two minutes, I was a genius on the latest treatment of von Willebrand’s disease. I called the blood bank, ordered Humate-P, and arranged to transfer the patient to the hemophilia center. My only regret is that I had not thought of the UpToDate concept myself. I had, in fact, been carrying around notes on various topics that I had computerized myself. To his credit, Dr. Burton Rose, a clinical professor of medicine at Harvard Medical School, had taken this idea to the next level.
Case #3:
More recently, I was asked to clear a patient for open heart surgery. When I went to see him, he told me he had just moved to New Jersey from Brooklyn, and was a factor IX hemophilic. He wanted to know why I was standing in the way of his of his surgery.
“Have you checked in with our hemophilia center in New Jersey?” I asked.
“Never heard of it, doc.”
I called the surgeon. “You don’t want to do this case,” I said.
“Why not just give him some factors,” the surgeon asked. “He’ll be OK.”
“You really don’t want to do this case here at Jersey Shore. He needs to go to the hemophilia center,” I replied.
Reluctantly, the surgeon agreed. The patient was transferred that evening. Here was a case off the radar screen of a doctor and his patient.
Case #4:
Most recently, I was called on the phone to give some advice to the medical resident seeing a 57-year-old Hispanic man who was in the ICU because of bleeding. The resident told me the patient had hemophilia.
“What kind of hemophilia does he have?” I asked.
“I don’t know,” was the answer.
“Did you ask the patient?”
“He doesn’t know.”
When I arrived, I found out that the patient had a dental extraction the previous day. He bled quite vigorously on the day of the extraction, and promptly came to the ER. He had not told the dentist about his hemophilia. The patient claimed to know no other details about his illness. We had no records on our hospital computer, which went back about ten years. I instructed the resident to call the hemophilia center, as I thought he must be known to them. Sure enough, the patient had records there. He was a mild hemophilic, with a factor VIII level of 20%. I ordered recombinant factor VIII and Amicar (Xanodyne Pharm). I walked into his room.
“Hello Dr. Topilow, you look the same as you did thirteen years ago when you took care of me.”
I was flabbergasted. Obviously, I had treated him. Why had he not told the dentist about his bleeding history? Did he think he had outgrown it? Or maybe the dentist ignored it, like the dentist the week before this consultation who extracted one of my patient’s teeth who was on warfarin. On further questioning, this patient admitted that he had bled severely after a tooth extraction as a young adult. Twenty years later he was accurately diagnosed as mild hemophilia A at the hemophilia center. Thirteen years ago he underwent uneventful ankle surgery at our hospital, with factor VIII replacement that I ordered. He went on to tell me that since he had not bled from multiple scratches over the years since that surgery, he had assumed that the condition had gone away! (This is something we trip up medical students with all the time — the concept of superficial vs. deep bleeding.) The patient admitted that he was always suspicious of the diagnosis, since no one in his family had ever been diagnosed with hemophilia. The concept of a de novo mutation was something he could not easily understand.
Importance of bleeding disorders
These situations remind me of Rodney Dangerfield’s line, “I can’t get no respect.” What is it about bleeding disorders that make both physicians and patients so frequently cavalier about them? Is it financial, psychological, or just denial? Results from an international survey of practice patterns for the management of patients with hemophilia A provide an opportunity to compare how hemophilia A is treated in 19 different countries. The survey was sponsored by Baxter Healthcare Corporation and an advisory panel of hemophilia nurses. They studied prophylactic therapy in severe hemophilic patients. “Very high” and “high” patient adherence to therapy was strongest during early childhood (0-12 years: 90%), most likely due to family supervision. Adherence fell with older patients (13-18 years: 54%; 19-28 years: 36%; >28 years: 47%). The most frequently cited factors affecting patients’ compliance to therapy were: inability to understand potential benefits (75% of respondents); denial (67%); poor venous access (66%); lack of parental/family commitment (63%); interference with lifestyle (62%); teenage rebellion (48%); and lack of time (42%). Although this study only looked at prophylactic therapy for severe hemophilia A patients, the reasons for noncompliance provide food for thought as to why bleeding disorders can be off so many lay and professional peoples’ radar screens.
Arthur Topilow, MD, is in private practice at Atlantic Hematology & Oncology in Manasquan, N.J.
For more information:
- Geraghty S, Dunkley T, Harrington C, et al. Practice patterns in haemophilia A therapy – global progress towards optimal care. Haemophilia. 2006;12:75–81.