August 30, 2009

Jake and the Specialists

Jake noticed a bump at the top of his thigh. It didn’t hurt, but it did feel warm. He could move it around like a golf ball which had somehow gotten under his skin. But he was 12 and it was right in the fold of his right groin, so he didn’t bring it to his mom’s attention for a couple of days. Then it started to be a little sore, and he let her know.

This was the first time I met Jake. He had scraped his knee about a week before the visit. He had a lot of scraped knees, and this one looked to be healing just fine. He didn’t associate it with the lump. His mother associated unknown lumps with cancer, and was very worried. I told him that I needed to look at his thigh and leg. His mother and I looked at his leg carefully, and there was what I had hoped not to find: a red streak going up the inside of his thigh and disappearing a couple of inches from the lump. I started him on antibiotics immediately.

What he had was lymphangitis, an infection which uses the highways of the body’s lymphatic system, which usually helps us to fight infections, to spread into places distant from the original injury. I sent him home, but gave his mother very specific instructions and cautions.

As I had instructed, she called the next day and said that he didn’t feel well and had a fever. This suggested to me that the infection—which probably started in that simple knee scrape—had started to leak into his bloodstream. I arranged to admit him to the hospital, where he was put on 2 different intravenous antibiotics. With the medicine, he got better quickly. As I chatted with Jake and his mother, they said that he often got skin infections that lasted a long time. He had been on many antibiotics.

They liked me, and I saw him about 6 months later when he needed another hospitalization for intravenous antibiotics to deal with 2 separate yet very large abscesses on his leg. Why did he get 2 at the same time? Culturing the bacteria from these infections showed Salmonella. Salmonella? The same bacterium that often causes food poisoning? I hadn’t heard of it causing skin infections.

The next one was about a year later, and this time he was quite ill, with fever, multiple streaks on the insides of his leg and thigh, and a big red injury on his ankle. Jake had gotten the injury 3 days before he came to see me. The infection progressed quickly, and he felt sick within a day or two. The culture was even more mysterious and grew a couple of different bacterial species. I hadn’t heard of that before, either. I asked for an infectious disease consult. Jake and his mother described the encounter. A medical student or resident came and looked at his streaks and his original wound. She didn’t ask much about the very brief history of this infection. Later that day, the team (the supervising physician, student physicians, and medical students) came into his hospital room. They all stood. No one introduced themselves. The head doctor said that she thought he had sporotrichosis. She recommended stopping the antibiotics immediately, and starting a potent and difficult-to-manage antifungal medication called amphotericin-B, known for its often serious side effects (with a nickname among physicians of ‘amphoterrible’). I was at work when this occurred. I received a phone call from the intern assigned to my patient a couple of hours later. He asked me if I would like to pretreat Jake with diphenhydramine (an antihistamine) before giving him the amphotericin. This sometime reduces the massive release of histamine when the drug is first infused. I was very patient, and suggested to the overworked intern that I wasn’t the right doctor, since he must be talking about another patient. I called the infectious disease department, but the doctor in charge never called me back. I got the story from the mother and the patient. After rushing over to the hospital, I spent several hours documenting in the chart why I didn’t think this was sporotrichosis and why I was not going to stop the antibiotics and start amphotericin.

Sporotrichosis is a relatively uncommon fungal infection most often picked up from the thorns of roses. Generally speaking, it doesn’t make you sick. It is well known for causing lymphangitis, but like many fungal infections, it grows very slowly. It is sometimes diagnosed after a patient has a visible infection for several weeks—sometimes months. It is most common among gardeners, farmers, and those who work with plants. Not 13-year old boys whose schoolyard is completely paved, without a garden at home. When I searched available reports of sporotrichosis, I couldn’t find one in which the patient went from scratched to sick in 3 days. Within a couple of days of intravenous antibiotics, he was better and I sent him home.

Every few months, he’d be back in my office with another serious skin infection. Nearly every time, the bacteria were different. If it wasn’t a single, aggressive species of bacteria, I reasoned, it must be his immune system—though he didn’t get other types of infection. I did some basic blood tests and they were all normal. Slowly, the investigation narrowed the possibilities. Eventually a single diagnosis kept popping to the top of my differential diagnosis list: chronic granulomatous disease. I had never seen a case. As I read more and more on Jake’s behalf, about all kinds of rare immune-deficiency syndromes that result in repeated serious skin infections, it was always the most likely. CGD also causes lung problems, but Jake had never had these.

There’s a test for chronic granulomatous disease. It’s called the Nitro blue tetrazolium test, or NBT test for short. Blood is drawn, immediately put on ice, and then rushed--usually as fast as possible--to the laboratory in order for the test to work. The local hospitals didn’t do it. The big laboratory companies didn’t do it. I needed to send Jake for this test. Finding out if he has this particular type of immune deficiency would change his life. I found the one place within 50 miles that did the test. It was done at the University of California San Francisco Hospital Laboratory. UCSF is one of the premier medical research institutions in the world. If there were a place to send somebody to get an exotic test, I figured, it was an excellent choice. I wasn’t on the staff there, however, and couldn’t simply order the test and get a result. I was told that I had to send Jake for an Immunology consult, and their doctors would order the crucial NBT test.

I've been posting essays about an important new book, Every Patient Tells a Story, about how doctors make a diagnosis. It has prompted me to reconsider some of my most difficult diagnostic challenges. Jake's story is one of these.

I had to fill out several forms and argue with Jake’s insurance company about how essential this test was, and that there wasn’t anywhere else to get it. Even after weeks waiting for approval, the first appointment was about 4 months later. I faxed the specialist at UCSF his history and laboratory findings, and wrote that the key purpose of the visit was the NBT test. His family and I waited for the day to arrive.

His mother called me after leaving the visit at UCSF. They didn’t do the NBT test. They told her that because he had not had lung problems, it could not be CGD, so he didn’t need the test. They offered no other alternative diagnosis. They neither did nor suggested any other tests. They never wrote to me or contacted me in any way.

About 18 months ago, Jake was 21. He still sees me when he’s sick, which isn’t often. He was at a time when he had no health insurance, but he called and said he was sick. He had fallen backwards when playing basketball a couple of days before, and that pain was getting worse. When he came to the office, he said he didn’t feel well, but the only thing that bothered him was some pain at the top of his backside. It looked like this:

I drained nearly a cup of gross material from the huge abscess, but I knew he’d be stuck with an insurmountable debt if I put him in the hospital. So I prescribed a high dose of generic medication and made him come in to see me every day, to keep examining him and draining the abscess, and call every evening. I made him move back in with his mom until he got better. He’s 23 now, doing OK. He’s got something, but I don’t know what. I worry about him.

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