Medical Mysteries

Doctors 'Were Not Thinking Outside Their Box'

By Sandra G. Boodman
Special to The Washington Post
Tuesday, June 9, 2009

For weeks doctors had been debating what to do about Anna Jewell's rising liver enzyme levels.

The Treasury Department employee, 32 and pregnant with her first child, had undergone numerous tests to determine whether she was suffering from a rare and potentially deadly complication known as acute fatty liver of pregnancy (AFLP). If that was the case, the best option was immediate delivery, even though her baby would be born prematurely.

A liver biopsy would confirm the diagnosis, but Jewell had balked at undergoing the painful, risky procedure recommended by a liver specialist. To the international economist and her husband, it seemed overly aggressive: She had none of the telltale symptoms of AFLP, such as abdominal pain. The other doctors treating her, including a second liver specialist, a high-risk-pregnancy expert and her own obstetricians, thought the rising enzymes might indicate a less serious problem.

Jewell found the whole thing mystifying -- and upsetting. She felt fine, although tired and weaker than usual. "I kept telling everyone, 'I'm really tired,' but nobody picked up on it," she recalled. "The reaction was sort of 'Yeah, you're pregnant.' I just thought it was what everyone experienced."

Ultimately it was Jewell, not the half-dozen doctors treating her, who figured out what was wrong -- and it wasn't her liver. One evening a few weeks before her February 2008 due date, Jewell was cleaning out a file cabinet in her Dupont Circle condo when she stumbled on a brochure a doctor had given her several years earlier.

"This is me! I have this," she excitedly told her skeptical husband, who accused her of self-diagnosing. "I tend to be a bit of a hypochondriac," she explained.

Not this time. Within 48 hours, tests had confirmed her suspicions and doctors had begun treatment, saving Jewell from possible irreversible damage and her baby from the potential harm of a premature birth.

Jewell's difficulty first surfaced in September 2004. Bothered by aching knees and swollen hands, the avid jogger and hiker consulted two rheumatologists who diagnosed her with mixed connective tissue disorder, an autoimmune problem with no known cause. The condition, which has symptoms seen in patients with arthritis and lupus, varies in severity, according to the Merck Manual, and is often diagnosed in women in their 20s.

Rheumatologist Russell Rothenberg prescribed the drug Plaquenil, which largely eradicated her symptoms. In April 2007, a month before she became pregnant, Jewell in consultation with her doctor stopped taking the medicine because she no longer needed it.

Her first trimester was uneventful, although Jewell noticed she felt tired. Even so, her job took her to Nicaragua, Honduras and Costa Rica, and she vacationed in England and Scotland, where she climbed rugged Ben Nevis, the highest peak in the United Kingdom.

In August she saw Rothenberg for a regular checkup. Things seemed fine, she said, although he noted at the time that two liver enzymes, AST and ALT, were slightly elevated. Around that time she noticed she was having trouble running on a treadmill, so she switched to swimming.

Meanwhile, her liver enzymes kept rising, to the puzzlement and consternation of her doctors. The obstetricians stepped up tests that monitored the fetus, which seemed to be developing normally. In November, after Jewell was given a diagnosis of gestational diabetes, her obstetricians referred her to a liver specialist.

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