The 'Rare' Disease That Isn't

[question everything]

JUNE 27, 2009

The 'Rare' Disease That Isn't
Often Undiagnosed, FMD May Afflict Up to 5% of Americans

By THOMAS M. BURTON
WSJ

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Fibromuscular dysplasia, which causes artery walls to expand into and obstruct arteries, is largely unknown to the public and even to a majority of doctors. Evidence suggests FMD might not be rare, it just isn't looked for. Tom Burton reports. "I believe that a large number of Americans have FMD," says Jeffrey W. Olin, director of vascular medicine and a professor at the Mt. Sinai School of Medicine in New York City. "It's reasonable to say that many thousands could be saved from complications like heart attack, stroke, ruptured aneurysm and even death, by screening patients."


(snip)

About 85% of the known FMD cases have affected women under 50 and girls, but boys and men also get it. It is not clear how the disease originates, though one French study reports that more than 10% of patients have close relatives with FMD. Dr. Olin says it is more like 5% in his patients. Last year, the National Institutes of Health identified several genes possibly linked to FMD. FMD was first described in a medical journal in 1938, but until roughly the past decade, publications described only isolated, individual cases. Vascular-medicine doctors, who specialize in diseases of the arteries and veins, generally say they received no information about it in medical schools. The field of vascular medicine itself is relatively small, with only a few hundred doctors, plus over 2,000 surgeons, practicing in the U.S. In contrast, there are roughly 25,000 cardiologists.

(snip)

While still at the Cleveland Clinic in the early 1990s, Dr. Olin encountered a 29-year-old patient who made a lasting impression. Lori Gardner, vibrant and otherwise in good health, had had a series of mini-strokes, constant fatigue and headaches, and a sky-high blood pressure of 250 over 150. Her doctors, she recalls now, had told her she had "stress." "I'd been through so many doctors who didn't have the time for me," she says. Dr. Olin performed scans of the carotid arteries in her neck and renal arteries, those that supply her kidneys, and found FMD. When FMD is present, the artery lining pushes into the artery channel, while adjacent artery sections often bulge out in an alternating pattern. On an imaging scan, an affected artery often looks eerily like a string of beads.

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Even when FMD is correctly diagnosed, doctors can make mistakes with treatment. In October 2007, doctors found a blockage in Rochelle DesRochers's renal artery. She was 45 years old, and told she had FMD. She says she brought literature to her doctor showing that the use of stents for such a blockage was generally a bad idea with FMD. "We do this all the time," she recalls her doctor saying. He placed a metal stent in her renal artery, she says. "Forty-five minutes into recovery, I started feeling pain," she says. Doctors found the artery had dissected, or torn, and was further blocking blood flow to the kidneys. They put in another stent to try to reopen the artery. Within days, despite being in a lot of pain, she was sent home by doctors. It turned out that the now-dissected artery had thrown a blood clot into her kidney. She now is being treated by Dr. Olin, who says a stent was the wrong procedure and that it probably caused the clot and death of extensive kidney tissue.

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The signs of FMD are frequently the same: young patients with high blood pressure, or who have had a stroke or temporary symptoms of a stroke; patients whose blood makes a swishing sound indicating turbulent flow; or patients with brain aneurysms. Last year, doctors started an FMD registry to compile basic information: How many patients have immediate family with the disease? Why do only some patients suffer strokes or artery dissections? Will a symptom-free patient necessarily stay that way?

The registry began enrolling patients in January. One, Michigan resident Shawn Haven, was first diagnosed at the Mayo Clinic by vascular specialist Robert McBane. The lesson from Ms. Haven's case: Some doctors don't think to use a stethoscope. Ms. Haven, now 45, went to a doctor in Michigan in October 2007 with severe abdominal pain and high blood pressure. She was very thin and unable to gain weight. By early 2008, she says, she had "horrific pain" in the stomach and went to the emergency room. Two doctors, she says, concluded her problems were in her head. She recalls one of them telling her, "Just look at you, you're trying to make yourself sick." Ms. Haven and her husband flew to the Mayo Clinic, where a doctor put a stethoscope to her abdomen. He heard a whooshing sound that indicates artery blockage and turbulent blood flow. Soon after, Dr. McBane found that FMD was blocking arteries to Ms. Haven's upper intestine, spleen and liver. The upper-intestine blockage led to the pain. Though the arteries have since been cleared, doctors say Ms. Haven continues to deal with symptoms from artery blockage. She says she has to stick to a bland diet and is in near-constant pain: "I am going to be living with this for the rest of my life."

http://online.wsj.com/article/SB124605981966763611.html (subscription)

Printed in The Wall Street Journal, page A1

[TheDebbieDee]

1. Bookmarking! I'm taking this with me to my doctor's appointment

on July 17th.

I wonder if this FMD is genetic and perhaps runs in families. It might explain why so many members of my father's family start suffering from high blood pressure while in their 20s.

My youngest brother started getting high blood pressure readings while he was in high school.

[question everything]

2. Good luck! Hope you will get a clean bill of health (nt)

[shireen]

3. thanks for posting that, very interesting! nt