The New York Times Magazine just posted a case report of a 15-year old world class gymnast who mysteriously developed abdominal cramps, diarrhea, constipation and an inexplicable swelling of her abdomen .  The article goes on to say that numerous diagnostic tests including MRI’s 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, she was told.” She was placed empirically on numerous treatments including hypnosis, acupuncture, Chinese herbals and prescription medications without benefit.  In the end, one pediatric gastroenterologist came to the conclusion that she must have a functional GI disorder (FGID).  More specifically she had irritable bowel syndrome that was associated with a not uncommon condition (to those with a specialty in FGIDs) known as abdominal-phrenic dyssynergia. With this condition there is a paradoxical redistribution of abdominal contents associated with descent of the diaphragm and relaxation of the abdominal musculature 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 physiological factors (1).  In addition, her constipation was due to incomplete relaxation of the pelvic floor muscles called pelvic floor dyssynergia which responded to biofeedback treatment (2).

I am fascinated by this article, not because we are dealing with “mystery diagnoses” (we see 6-8 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 criteria that are well accepted in the field (3) .

When diagnostic studies were negative, it was presumed that the patient had a psychiatric problem. This relates to the lack of knowledge of the Biopsychosocial model of illness and disease: “If the studies are negative then the symptoms must be in her head” (4)For a video presentation as to why this occurs see:

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 shouldn’t respond to that.  More important 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 paradoxically 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 so afflicted we need to understand that diagnosis and treatments are at hand once we give up a few misconceptions.

 Reference List

  (1)    Accarino A, Perez F, Azpiroz F, Quiroga S, Malagelada JR. Abdominal distention results from caudo-ventral redistribution of contents. Gastroenterol 2009; 136(5):1544-1551.

(2)    Chiarioni G, Whitehead WE, Pezza V, Morelli A, Bassotti G. Biofeedback is superior to laxatives for normal transit constipation due to pelvic floor dyssynergia. Gastroenterol 2006; 130(3):657-664.

(3)    Drossman DA. The Functional Gastrointestinal Disorders and the Rome III Process. In: Drossman DA, Corazziari E, Delvaux M, Spiller R, Talley N, Thompson WG et al., editors. Rome III: The Functional Gastrointestinal Disorders. 3rd Edition ed. McLean, VA: Degnon Associates, Inc.; 2006. 1-29.

(4)    Drossman DA. Functional GI Disorders: What’s in a Name? Gastroenterol 2005; 128(7):1771-1772.


Dr. Douglas A. Drossman