Judy Maggiore remembers looking in the mirror in college, perplexed by her body's disproportion.
"I was skinny. I was a stick. The upper part of my body was really, really thin. You could see my ribs!" exclaims Maggiore. "But from the waist down, it was like there were two of me or something."
Tree-trunk-like legs and a slim upper body are the signature characteristic of a lipedema patient. You can starve yourself and exercise for hours a day and the fat will not regress. But Maggiore didn't know that at the time. She swore off bathing suits and hit the gym fanatically.
Even though she was mystified by her body, she didn't consider going to the doctor. "Clearly, there was something wrong with me. I wasn't eating the right things. I wasn't exercising correctly."
She tried every diet imaginable, from Atkins to Weight Watchers to Jenny Craig. Nothing worked.
Finally, last year — when she was 68 years old — a lymphatic specialist shocked her with a diagnosis of lipedema.
"I was like, 'Whoa!' " exclaims Maggiore. "I've never heard that before. They have a name for it and it's not my fault!"
Lipedema is a lymphatic disease that is thought to affect 10 million to 17 million people in America, mostly women. Exact patient estimates are not available because it's hard to diagnose. In fact, many lipedema patients don't even know they have it. Neither do their physicians, who often assume their patients are obese. Plus, doctors often confuse lipedema with lymphedema — a prevalent lymphatic disease that presents similar symptoms. Maggiore says every doctor she saw throughout her life told her she needed to lose weight.
There isn't a standard exam like a blood or urine test for lipedema. Instead, doctors use physical clues, like the unusual texture of the skin. It starts to feel like sand, then pebbles, and then small stones. The fat cells keep enlarging and increasing.
"It's like being wrapped in bubble wrap," says Maggiore.
The causes are mysterious too, although early studies suggest lipedema is a genetic condition in women. It seems the disease is hormonally triggered, as the onset is usually around puberty, and symptoms worsen during childbirth and menopause.
"We just have the earliest clues about where to look and what to think about," says Dr. Stanley Rockson, a professor and researcher at Stanford University.
Usually fat cells expand when you overeat, and then shrink when you diet — but something goes awry in lipedema patients. Rockson uses the metaphor of a bank to illustrate how cells in lipedema patients work.
"They're a very unusual bank, because they accept deposits but no withdrawals," says Rockson. "So once they accumulate material, it never comes out again."
Rockson is one of only a handful of lipedema specialists in the world trying to understand the disease's pathology. In a current study, he is analyzing tissue samples from the legs and abdomen to better understand why subcutaneous fat accumulates primarily in the lower body. He is also testing anti-inflammatory drugs that have worked on other lymphatic diseases to reduce pain.
And he is one of the founders of an international registry collecting the medical records of patients who suffer from lymphatic diseases. He hopes the research will eventually lead to treatments for the disease. As of now, doctors have few options for patients.
The only long-term treatment is liposuction, and Maggiore is terrified of surgery. But some women felt like it was their only choice.
When Marlene Simpson's scale topped 300 pounds, she was desperate for thinner legs. She wasn't sleeping, which led to exhaustion and made functioning at work nearly impossible.
She tried complete decongestive therapy, compression stockings, wraps, night garments, manual lymph drainage therapy (by a therapist and self), weight-loss diets, swimming, walking, deep breathing exercises and daily use of a compression pump before she chose to undergo liposuction.
But her initial appointment with a plastic surgeon was devastating. The physician denied her self-diagnosis. "He told me that I shouldn't believe what I see on the Internet," says Simpson.
But she didn't give up. More Internet research led her to Dr. David Amron, a dermatologic surgeon in Beverly Hills who specializes in lipedema. She booked a flight from her home in Sacramento, Calif., as soon as she could. After two surgeries, Simpson's legs were 24 pounds lighter.
When she returned home, she felt like a new person.
"It wasn't until I had surgery that I just realized that I was in a lot of pain," says Simpson.
Simpson's pain was caused by all the extra weight pressing on her nerves and lymph vessels. Over time, lipedema can be debilitating because blood clots, skin ulcers, and recurrent infections can develop.
But the relief set Simpson back $21,000 because her insurance denied the procedure. The company claims that liposuction is a cosmetic procedure, and it is not a recognized treatment for lipedema.
Amron says liposuction does work. If patients continue to diet and exercise, he swears the fat should not come back.
Ninety percent of Amron's clientele have lipedema. They come to him for liposuction.
"They found their way to me about 10 years ago when I started doing lipedema patients, and I'd never even heard of the condition," says Amron.
In fact, most doctors haven't heard of lipedema. A 2004 Stanford University study showed that most U.S. medical schools spend less than 30 minutes teaching the entire lymphatic system.
"So, not surprisingly, doctors don't know a lot about these diseases or the underlying conditions," says Rockson. "If you poll 100 physicians off the street, you might find one that knows the term lipedema, and that one might not have much to say about it other than a recognition of the name."
One of his patients, Maggiore, hopes to someday benefit from his research. In the meantime, her daily lunch is a bowl filled with vegetables, and even though she usually skips dinner, the fat on her legs continues to thicken, causing chronic pain. She savors each bite slowly, in hopes of keeping fat cells at bay.
DAVID GREENE, HOST:
Millions of women are suffering from a disease that poses as obesity. Most patients don't know they have it. Most doctors haven't heard of it. Dieting doesn't work because the patients have abnormal fat cells that just never go away. Lesley McClurg from member station KQED in San Francisco reports.
LESLEY MCCLURG, BYLINE: In college, Judy Maggiore remembers looking in the mirror, perplexed by her body's disproportion.
JUDY MAGGIORE: The upper part of my body was really, really thin. You could see my ribs. I was skinny. I was a stick.
MCCLURG: But from the waist down...
MAGGIORE: There were two of me or something. It was really heavy.
MCCLURG: Legs that look like tree trunks and a slim upper body are the signature characteristics of a disease called lipedema, but Maggiore didn't know that at the time. She swore off bathing suits and started exercising fanatically.
MAGGIORE: And everybody else in the class, you know, their legs were OK, and mine weren't.
MCCLURG: And would you go to the doctor, or were you just like - in your head, like, I just better go to the gym again?
MAGGIORE: It never occurred to me to go to the doctor for this because it was - clearly there was something wrong with me. I wasn't eating the right things. I wasn't exercising correctly.
MCCLURG: Yet Maggiore tried every diet imaginable.
MAGGIORE: Atkins, Weight Watchers, Jenny Craig.
MCCLURG: South Beach, paleo - but nothing worked. Finally, last year, when she was 68 years old, lymphatic specialists shocked her with a diagnosis of lipedema.
MAGGIORE: I was like, whoa, never heard that before. They don't have a name for it, and it's not my fault.
MCCLURG: The genetic link clicked. She remembered her grandmother's dimpled, column-like legs. Over time, the disease changes the texture of the skin. It starts to feel like sand and then pebbles and then small stones. The fat cells keep enlarging and increasing.
MAGGIORE: It's like being wrapped in bubble wrap.
MCCLURG: Maggiore obsessively watches what she eats. Her daily lunch is a bowl filled with vegetables. She rips open a plastic package of organic greens in her kitchen in Oakland.
MAGGIORE: I'm putting in a few - yum-yum.
MCCLURG: And even though she usually skips dinner, the fat under her skin continues to thicken, causing chronic pain. Dr. Stanley Rockson at Stanford diagnosed Maggiore. He's one of only a handful of lipedema specialists in the world. He uses the metaphor of a bank to illustrate how the disease works. Usually, fat cells increase when you overeat and then decrease when you diet. But something goes awry in lipedema patients.
STANLEY ROCKSON: They're a very unusual bank because they accept deposits but no withdrawals. So once they accumulate material, it never comes out again.
MCCLURG: Patient estimates vary widely, with the high end of the range at 17 million women in America. Exact numbers are not available. It's hard to diagnose because there isn't a standard test. Instead, doctors rely on a physical exam and clinical history. Unfortunately, Rockson says, a lot is not known about the disease.
ROCKSON: The average doctor, just taking a poll of 100 physicians, you might find one who knows the term. And that one might not have much more to say about it than a recognition of the name.
MCCLURG: And the worst part is there is no cure. Surgery can provide relief in advanced cases.
DAVID AMRON: OK, we're going to start liposuction on the whole front part of the calves and ankles.
MCCLURG: Marlene Simpson was desperate for relief. This was a last resort.
AMRON: Lock the left leg. Lock that.
MCCLURG: Dr. David Amron sucked 24 pounds of fat and scar tissue out of Simpson's bulging legs in an operating room in Beverly Hills. When Simpson returned home to Sacramento, she felt like a new person.
MARLENE SIMPSON: It wasn't until I had surgery that I just realized that I was in a lot of pain.
MCCLURG: The pain is caused by extra weight pressing on nerves. Over time, it can be debilitating. She had tried everything from compression stockings to complete decongestive therapy before she chose liposuction. Unfortunately, her first plastic surgeon mocked her. He told her...
SIMPSON: I did not have lipedema, that I shouldn't believe what I read on the Internet and listen to these people that are promoting this mystery disorder.
MCCLURG: He's not the only one who didn't believe she needed surgery. Simpson paid $21,000 out-of-pocket because her insurance wouldn't pay.
SIMPSON: This type of liposuction, there's no long-term results, and so therefore they're not going to cover it.
MCCLURG: Her insurance deemed liposuction experimental. They require more studies showing the fat will stay off long term. The denied claims stung, revealing yet again how little the medical community knows about Simpson's disease, but at least she knows her condition is not her fault. That's a huge relief after enduring a lifetime of shame.
For NPR News, I'm Lesley McClurg in Oakland. Transcript provided by NPR, Copyright NPR.