Misunderstood Functional GI Disorders: Gymnast’s Case Shows Why We Must Accept FGIDs as a Chronic Disorder

The New York Times Magazine recently posted a case report of a 15-year old world class gymnast who mysteriously developed abdominal cramps, diarrhea, constipation, and an inexplicable swelling (distension) of her abdomen. Numerous diagnostic tests, including MRIs and ultrasounds, and trips to a half dozen hospitals, including the Mayo Clinic, left gastroenterologists, neurologists, urologists, psychiatrists, surgeons, physical therapists, an endocrinologist, and a cardiologist scratching their heads in wonder. No one understood why the girl looked pregnant or why she couldn’t go to the bathroom without laxatives. When the tests kept coming back negative the doctors began to suspect that, "there was nothing really wrong: it was in her head." The girl was placed on numerous treatments without benefit including hypnosis, acupuncture, Chinese herbals, and prescription medications.

In the end, one pediatric gastroenterologist came to the conclusion that she must have a functional gastrointestinal disorder (FGID). More specifically she had irritable bowel syndrome (IBS) that was associated with a not uncommon condition (to those with a specialty in FGIDs) known as abdominal-phrenic dyssynergia. With this condition abdominal muscles relax when they should contract and the diaphragm contracts when it should relax, leading to distension. This is not an increase of gas or fluid in the abdomen; it’s a pushing out of the abdominal wall that can come and go during the day depending on meals, the degree of pain, stress levels, and other factors involving body functions. In addition, her constipation was due to incomplete relaxation of the pelvic floor muscles called pelvic floor dyssynergia, which responded to biofeedback treatment.

I am fascinated by this article, not because we are dealing with "mystery diagnoses" (we see a large number of patients with similar abdominal distension and dozens of patients with pelvic floor dyssynergia in our practice each year). What interests me is the high level of public interest that leads this case to be featured in the New York Times. What is it that renders so much attention? And what are the problems with this kind of attention? There are several factors we should consider:

  • The diagnosis of a functional GI disorder was made after many expensive and unneeded tests were performed, and by exclusion. IBS and other functional GI disorders are positive diagnoses. To recognize and accept these conditions as real will lead to fewer unneeded studies to "exclude organic disease." The Rome Foundation has established positive diagnostic criteria that are well accepted in the field.

Biopsychosocial model

An approach which proposes that illness and disease result from simultaneously interacting systems at the cellular, tissue, organismal, interpersonal, and environmental level. It incorporates the biologic aspects of the disorder with the unique psychosocial features of the individual, and helps explain the variability in symptom expression among individuals having the same biologic condition.

  • When diagnostic studies were negative, it was presumed that the patient had a psychiatric problem. This relates to a misunderstanding of the nature of disease and illness called dualism: "If the studies are negative then the symptoms must be in her head." It is more appropriate to understand this from the Biopsychosocial model of illness and disease. (Learn more by viewing this video of Dr. Drossman discussing doctor-patient communication.)
  • Once the diagnosis was made the patient had a miraculous cure to the treatment. I think we can all identify with this young athlete whose life was put on hold as she had to suffer with this disabling condition. But the article leads us to believe that her biofeedback treatment led to dramatic cure. I believe there is some poetic license taken here to lead us to this satisfying ending. Yes, the pelvic floor dyssynergia does respond to anorectal biofeedback, but the abdominal distension is a more complex physiological entity and should not respond to that. Patients with functional GI disorders must often deal with a lifelong history of symptom relapses and remissions or must try to control constant symptoms every day. This is the reality. While we can hope for cure which occurs with some patients, the majority need to accept FGIDs as a chronic disorder. But much like migraine headaches and arthritis, there are treatments that can reduce symptoms intensity and improve quality of life.

I’m sure this type of article may lead many patients to physicians who will do more and more studies to rule out "organic" disease in the hopes of achieving a cure. As physicians and patients are so afflicted, we need to understand that diagnosis and treatments are at hand once we give up a few misconceptions.

For a link to the New York Times article and to read Dr. Drossman’s full post, as well as the articles referenced in Dr. Drossman’s article, visit: http://drossmancenter.com/misunderstood-functional-gi-disorders/.

Dr. Drossman currently sees patients at his practice, Drossman Gastroenterology, in Chapel Hill, North Carolina. You can learn more about his practice at www.drossmangastroenterology.com.

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