The 56-year-old interior designer was at her desk, on the phone, when the now-unmistakable burning ignited her chest. Since her heart attack the year before, the pain, which her cardiologist called angina, would hit her at the strangest times. Just sitting or even sleeping, she’d get this sensation like terrible heartburn. She quickly got off the phone, knowing what was coming next — the rib-crushing pressure that made it hard to talk or even breathe. She made her way to the kitchen and bathroom, looking for nitroglycerin, the only medicine that relieved the pain. She couldn’t read the labels on the pill bottles — that’s when she knew she was in real trouble. She could feel her heart beating erratically as she called 911. She collapsed before she could even unlock the door.
The next thing she knew she was at eye level with a dozen workmen’s boots. I need nitroglycerin, she croaked. Far away, she heard the clipped, crackly syntax of walkie-talkie’d instructions. She was lifted onto a stretcher and jostled to an ambulance before she felt the relief from the sliver of nitroglycerin slipped under her tongue. The weight on her chest lightened. Within minutes, she was rolled into the E.R. of HonorHealth Medical Center in Scottsdale, Ariz. “We think you’re having a heart attack,” a stethoscope-draped man told her.
A Repeat Performance
It was all horribly familiar — a rerun of an episode 15 months earlier, when she was with her family in River Vale, N.J. Back then, the burning pressure sent her to the emergency department, and she was told the same thing: She was having a heart attack. Immediately the cardiologist looked for blockages in the coronary arteries, which feed blood and oxygen to the hardworking muscles of her heart. That was the cause of most heart attacks. But they found no blockage. She’d had a heart attack, the doctors said, but it wasn’t from atherosclerotic plaques narrowing her vessels with layers of fat and crust. Instead, a spasm squeezed her coronary arteries so tight that she couldn’t get sufficient blood through them to power her heart. When the spasm passed, the arteries reopened, and blood flow was restored.
She told the doctors in the Scottsdale E.R. that when doctors looked at the arteries in her heart before, they hadn’t found any blockages. But the Scottsdale doctors still took her to the cardiac-catheterization lab. The lack of blood flow was causing her heart to beat erratically. Getting rid of a blockage, if she had one, would save her heart muscle and maybe her life. Again, when they filled her arteries with the contrast, they found no blockages.
A New Doctor With New Questions
When she was sent home a couple of hours later with no better understanding of the cause of these heart attacks or how she might prevent them, she started looking for someone who could help her figure this out. Her cardiologist in New Jersey suggested she see Dr. C. Noel Bairey Merz, a cardiologist specializing in heart disease in women. She directs the Barbra Streisand Women’s Heart Center in Los Angeles. When the patient called, she was told she could not be seen for more than a month, and she’d need to stay in L.A. for a week to get the full work-up. No problem, she told them. She’d waited nearly a year and a half. Another couple of months wouldn’t kill her — she hoped.
Bairey Merz radiated a brisk no-nonsense competence that the patient found reassuring. The doctor asked all kinds of questions — far beyond the usual history she’d already told to other cardiologists. Bairey Merz noted the fact that the patient for a long time had a discolored nail, which was thought to be a sign of psoriasis, an inflammatory condition. In addition, her angina was hard to control with the usual medications; she had chest pain almost daily. Also, a decade before, she had many episodes of an abnormal heart rhythm. She had two procedures to fix that.
Bairey Merz’s staff ran her through a long series of tests. The last and most difficult was the C.R.T. — a cardiac-reactivity test, in which patients’ coronary arteries are injected with drugs that trigger either vascular contraction or relaxation. Watching the reaction to the medications can reveal whether the patient has significant degrees of blood-vessel restriction, or what’s known as vasospasm. This patient’s coronary arteries were highly reactive. She clearly had severe vasospasm, which was most likely causing the pain and the heart attacks, Bairey Merz told her. She started the patient on a type of blood-pressure medication that reduces the arteries’ tendency to spasm and a long-acting form of nitroglycerin.
The medication will help with some of the hyperreactivity of the vessels, the doctor said, but she suspected there was something else “driving the bus.” Inflammatory diseases are correlated with vascular instability, so the cardiologist recommended the patient see a rheumatologist, a colleague named Swamy Venuturupalli.
The Clue That Unlocks the Diagnosis
Although Bairey Merz had cast a wide net in evaluating her heart issues, Venuturupalli’s reach was even wider. He seemed interested in just about everything that had happened to her. Where had she lived? (Mostly the West Coast.) What kinds of activities had she done? (Lots of sports.) What about her parents? (Both had serious heart problems; her father died of a heart attack when he was just 36.) Her siblings? (Healthy.) Then he asked a question no one had asked before: Did she get a lot of canker sores? She was amazed. Since childhood, she had frequent terrible canker sores that lasted for weeks. Sometimes it was hard to eat or even talk. Her mother, a nurse, told her everybody got them and thought she was being dramatic when she complained. So she had never brought them up with her doctors. Now the woman saw that her answer somehow made sense to the rheumatologist.
Indeed, that was the clue that led the rheumatologist to a likely diagnosis: Behcet’s disease. It’s an unusual inflammatory disorder characterized by joint pains, muscle pains and recurrent ulcers in mucus membranes throughout the body. Almost any part of the body can be involved — the eyes, the nose and lungs, the brain, the blood vessels, even the heart. Behcet’s was named after a Turkish dermatologist who in 1937 described a triad of clinical findings including canker sores (medically known as aphthous ulcers), genital ulcers and an inflammatory condition of the eye. This triad, Behcet proposed, constituted a new disease. Venuturupalli asked the patient about the other symptoms described by Behcet. She’d had them all.
A Disease of Ulcers
Behcet’s is a disease most commonly found in Turkey and among other populations along the so-called Silk Road — the land route connecting Asia, where silks were made and exported for centuries, to population centers in Europe, Africa and the Arabian Peninsula. But it has also been described in other populations. There is no definitive test for Behcet’s. The diagnosis is based on the patient’s story and medical history. Persistent and frequent aphthous ulcers are essential. The diagnostic criteria require that patients have at least a history of these sores, along with at least two other symptoms common in Behcet’s. They include the symptoms first described by Behcet and one of a handful of unusual skin disorders.
Treatment depends on which symptoms you’re trying to treat. Venuturupalli focused on the vascular symptoms, which he thought were driving her frequent episodes of angina. Once he started her on an immune-modulating medicine called adalimumab, she has been doing well. She still needs to take her anti-anginal medications, but she has no more canker sores and less of the body soreness that she didn’t even know was part of the disease until she started treatment.
It’s amazing to the patient that her diagnosis was made on the basis of a symptom that she’d spent years complaining about — to anyone who would listen, except her doctors. And yet it was right there all along.
