As a dermatologist, I see many skin disorders but rarely anything so revealing—and misleading—at the same time.
"There are lots of bumps coming up," my new patient told me.
Dozens of tiny yellow and pinkish eruptions ringed in red were scattered over his chest, abdomen, upper and lower extremities, and back.
"How long has this been happening?" I asked.
"Three months. I went to the walk-in clinic, and the doctor said to come see you."
"Did they do any tests?"
"Do these bumps bother you?" I asked.
"Sometimes. Kind of itchy."
"Do you remember if they came on gradually or suddenly?"
"It was like all at once. One day they just seemed to be there."
I checked his chart: 37 years old. He had a hernia repair as a child and a history of unspecified back surgery. Now he had hypertension and occasional abdominal pain. He was taking medications for pain, depression, and high blood pressure.
"Any particular diseases run in the family?" I asked.
"I was adopted when I was 2. I don't know anything about my natural parents or family."
"What about your diet?"
"Not real great lately."
"I eat about three gallons of ice cream and a bottle of chocolate syrup every week."
I noted this on his chart but said nothing. Doctors are trained not to be judgmental. He was five foot eight and weighed 230 pounds. His blood pressure was 142/88, and his pulse was 92. He had checked off "yes" to smoking, 1.5 packs of tobacco a day for approximately 20 years, and occasional alcohol use. He said he didn't use illicit drugs.
For more clues, I shaved a bit of the skin eruption for analysis, and I ordered tests of his fasting lipid profile, complete blood count, and blood chemistry.
"What the heck is going on with me?" he asked.
"The growths are not any kind of cancer, but they could be a sign of a problem inside. You need to get the laboratory tests done as soon as possible. And I'll be seeing you right after that."
Before he left I made sure he was scheduled again for an appointment and dictated a letter to the doctor he'd seen at the walk-in clinic.
A few days later, the biopsy result confirmed my suspicions: eruptive xanthoma, a type of benign skin growth made up of macrophages (immune cells) filled with fatty substances called lipids. Xanthomas are associated with a condition in which lipids—specifically, a type of fat called a triglyceride—accumulate in the blood and elsewhere.
His lab tests showed that his total cholesterol was almost 1,000 and his triglycerides close to 4,000, both dangerously high. His glucose was elevated at over 200, and his liver enzymes—an indication of systemic problems that can accompany xanthomas—were also up. I left a message on his answering machine to contact me right away. About two hours later, I got a call from his father.
"You're the dermatologist, right?"
"Yes," I said.
"He had good things to say about you. I talked to him about you just yesterday."
"How is he doing?"
"Not so good. He's in the hospital with a heart attack. Got up this morning and complained of chest pain that kept getting worse. Luckily I was here to rush him over there."
His father told me where he was and who was treating him.
"I appreciate your calling me," I said. "Sorry he's in bad shape."
I arranged to have the patient's recent blood and biopsy reports along with my contact information faxed to the hospital.
Later, the attending doctor called. "I'm glad you sent us your findings," he said. "Your reports saved us a lot of time and helped us get his treatment going in the right direction." He went on to explain that they found severe premature atherosclerosis and an enlarged left ventricle. "We're getting some more specific tests," he added. "He should be out of the ICU in a couple of days if all goes well. If we keep him alive, he'll be rooming with us for a while."
"I'm sure it'll take time. But I have a question. I have seen others with this problem, and they've had pancreatitis. What's different here?"
"This guy was playing with fire," the attending doctor said.
"How's that?" I asked.
"We do routine toxicity tests, and he came back positive for cocaine. High levels. So on top of this lipid problem he was pushing his heart even harder."
Many conditions that perturb lipid metabolism can cause xanthomas, including diabetes, low thyroid, and alcohol abuse, and in women, the use of estrogen. But the doctor suspected a different explanation: Cocaine use had heightened a preexisting genetic vulnerability to heart problems.
The patient's prematurely narrowed arteries and high lipid levels were strong clues. A variety of protein defects can disrupt normal function and cause lipids to accumulate in the blood, infiltrate the walls of blood vessels, and form deposits on the skin. The conditions are often inherited, and patients typically develop atherosclerosis in their twenties or thirties. Skin eruptions are a common symptom. The patient didn't know his biological family's medical vulnerabilities because he had been adopted.
In someone whose arteries are already prematurely narrowed, cocaine use will make a heart attack even more likely. Cocaine damages the heart by triggering the release of epinephrine and norepinephrine, hormones that cause arteries to constrict, force the heart to work harder, and sometimes induce a spasm in the coronary arteries. Cocaine also damages the heart wall itself, although why this occurs is not well understood. The relationship of cocaine use to heart problems was first documented in the early 1970s, and cardiovascular symptoms are now recognized as the most common symptom of cocaine abuse.
Although chronic cocaine use could have provoked accelerated atherosclerosis, the patient's high levels of cholesterol and triglycerides had put a tremendous strain on his cardiovascular system. His tobacco habit had further heightened his risk because cigarette smoke is believed to provoke inflammation in the circulatory system.
A genetic test subsequently confirmed that he had familial dysbetalipoproteinemia, a condition that occurs in about 1 in 10,000 people. While he was hospitalized, the patient began taking a lipid-lowering drug. By interfering with the body's ability to make triglycerides, it would help diminish his cardiac problems and prevent pancreatitis.
I saw him again when he got out of the hospital a month later. His plasma triglyceride levels had fallen to less than 1,000 milligrams per deciliter, and the xanthomas were beginning to disappear.
He looked a bit more relaxed than during his first office visit. "I appreciate your getting those blood tests and a skin sample. The doctor in the hospital told me that helped save me."
We talked about his drug use, his genetic vulnerability, and how the xanthomas developed.
"I cleaned up my act," he said.
"If you can be honest with yourself, it helps," I said. "And be truthful to your health care providers. You almost lost your life." If he used cocaine again, I explained, it would be like a time bomb set to go off.
"I ain't no terrorist," he said. "Especially against myself."
I saw him about six months later. This time his blood fats were getting back to normal levels, and the xanthomas had almost vanished. He had confronted an unknown genetic legacy and a self-destructive drug habit, and he was lucky to be alive.
Robert Norman is a dermatologist in Tampa, Florida, and the author of The Woman Who Lost Her Skin and Other Dermatological Tales. The cases described in Vital Signs are true stories, but the authors have changed some details about the patients to protect their privacy.
There are many sources on the Web for more information about hyperlipidemia, including the American Heart Association and VascularWeb.