Diagnosing and treating patients with refractory functional gastrointestinal disorders.

Patients with functional gastrointestinal disorders are often seen in medical practice. Most of these patients have intermittent, mild-to-moderate symptoms and little disability, and dietary and lifestyle modifications or symptomatic treatments are usually successful. However, one of the greater challenges clinicians face is to understand and care for patients who frequently seek health care because of painful and disabling symptoms. These patients are refractory to the usual treatments and encumbered by psychological difficulties resulting from either their condition or their inability to cope, or both. They are particularly susceptible to receiving unnecessary, expensive, and possibly risky diagnostic tests and treatments in efforts to find the answer and relieve their distress. I offer an approach to these patients that 1) emphasizes a diagnostic evaluation that uses positive symptom criteria and that is limited to avoid unnecessary studies; 2) provides key questions that help the physician understand the psychosocial contributions to the illness; 3) optimizes patient and physician satisfaction and adherence to treatment; and 4) provides information about psychological referral and treatment. These observations and recommendations add to existing knowledge of the physiologic features of these disorders and their specific treatments [1]. Furthermore, the concepts and techniques presented here can be applied to patients with other chronic and painful disorders, such as fibromyalgia, headache, back pain, and genitourinary pain. Diagnostic Evaluation Because a functional gastrointestinal disorder is by definition a variable combination of chronic or recurrent gastrointestinal symptoms not explained by structural or biochemical abnormalities [2-4], it cannot be diagnosed through endoscopic, radiologic, or laboratory studies. Furthermore, even though these disorders share certain physiologic characteristics (such as abnormal motility and visceral hypersensitivity) that are associated with symptom generation [5], the findings are not specific for diagnosis, and the clinician has limited ability to evaluate them in practice. Finally, given that these disorders occur frequently in the population [6] and in clinical practice [2] and that they are not life-threatening, a conservative diagnostic approach is recommended. Figure 1 shows the diagnostic strategy discussed below, which relies heavily on the clinical history, a limited diagnostic evaluation, and early symptomatic treatment that includes symptom monitoring and reassessment. Figure 1. A diagnostic strategy for evaluation of patients with functional gastrointestinal disorders. Symptom-Based Diagnosis Recent efforts have led to the development of a symptom-based diagnostic classification system for the functional gastroenterologic disorders (known as the Rome criteria) that is similar to classification systems used in psychiatry [7] and rheumatology [8]. A positive diagnosis made using symptom criteria helps reduce the tendency to order studies to rule out other disease. Table 1 lists the functional gastrointestinal disorders recently proposed by the Rome multinational working committees of gastroenterologic investigators [1]. The diagnostic criteria for each disorder were established through review of the literature and group consensus [5, 9]. (Table 2 and Table 3) list the criteria for the irritable bowel syndrome and functional dyspepsia, two of the more common conditions. In all cases, diagnosis is made after an appropriate evaluation is done to exclude other medical disorders. Table 1. Functional Gastrointestinal Disorders Table 2. Rome Diagnostic Criteria for the Irritable Bowel Syndrome* Table 3. Rome Diagnostic Criteria for Functional Dyspepsia* Given the various clinical syndromes that compose the functional gastrointestinal disorders, detailed recommendations proposed by the Rome committees on symptom criteria, pathophysiology, diagnostic evaluation, and treatment are beyond the scope of this discussion and are found elsewhere [1, 4, 10-14]. Additional information for the irritable bowel syndrome [15-17], functional dyspepsia [11, 18, 19], the functional esophageal disorders [10, 20, 21], functional (idiopathic) constipation [13, 22, 23], chronic functional abdominal pain [13, 24], and the functional anorectal disorders [25] is also available. Identifying Symptom Subgroups Once the diagnostic criteria are fulfilled, the physician may need to consider whether there are symptom subgroups that require different diagnostic and treatment approaches. For example, the irritable bowel syndrome may be diarrhea-predominant, constipation-predominant, or both. Certain diagnostic studies (such as biopsy of the small or large intestine to exclude small-bowel malabsorption or microscopic colonic inflammation) or treatments (such as loperamide) might be ordered when diarrhea is predominant but are not indicated when constipation is predominant. Similarly, as shown in Table 3, functional dyspepsia has been subclassified into ulcer-like and dysmotility-like dyspepsia. Although some controversy exists about whether these two subgroups are pathophysiologically distinct [26], physicians tend to differentially choose endoscopic evaluation and H2-blocking agents for ulcer-like dyspepsia and to order a solid-phase gastric emptying study or a prokinetic agent (such as cisapride or metaclopramide) for dysmotility-like dyspepsia. Other Clinical Factors Several additional factors need to be considered when planning a diagnostic strategy: the duration and severity of symptoms and their changes over time (their trajectory), demographic features, the referral status of the patient, and cost. For example, a young patient visiting a family physician because of short-lived and relatively mild lower abdominal cramping and diarrhea is likely to receive a limited evaluation, if any, and to be followed expectantly. In comparison, an older patient referred to a gastroenterologist with similar but progressive symptoms is likely to receive a colonoscopy. Concurrent psychosocial difficulties will affect the ways in which symptoms are reported and the patient's ability to cope with symptoms, and in some cases these difficulties may be the primary basis for the symptoms (as in the somatization disorder). However, they do not protect the patient from other serious medical conditions. The clinician must appraise the relative contributions of psychosocial and medical factors when selecting the best diagnostic strategy. Physical Examination The physical examination serves primarily to exclude other diagnoses. However, the laying on of hands also provides a foundation for the physician's later reassurance of the patient. Limited Diagnostic Screening Unless the clinical data (for example, occult blood in the stool, significant weight loss, or abnormal physical findings) suggest the possibility of other disorders, the diagnostic studies ordered on the first visit should be limited. The choice depends on the nature and severity of symptoms and the other clinical factors enumerated above. Thus, the physician might order stool examination and sigmoidoscopy for colonic symptoms but might consider only a therapeutic trial for upper gastrointestinal symptoms. This approach is supported by studies of the irritable bowel syndrome [27-29] that indicate a missed diagnosis rate of less than 5% in patients who were followed for up to several years. Initiation of Treatment and Reassessment By the end of the first visit, the physician should consider initiating symptomatic treatment and should plan to reevaluate the clinical response in 3 to 6 weeks. This is the key to the conservative diagnostic approach: The physician is able to reevaluate the patient's clinical condition and the diagnostic strategy on the basis of information obtained at two or more points in time. The use of a symptom diary (see below) during this observation period can help by providing prospective information on the nature and progress of the symptoms and their associations with stressors or environmental factors. Psychosocial Assessment: Key Clinical Questions Twelve key questions can be asked during the first visit to help determine the biopsychosocial nature of the condition and to help plan possible psychological referral or treatment. 1. Is the Pain Acute or Chronic? Chronic pain is more strongly influenced than acute pain by higher brain centers or enhanced visceral sensation, so it is less likely that tissue pathology will be found with chronic pain. Thus, although acute pain is more likely to be associated with a single specific cause related to tissue damage, chronic pain has multiple, behavioral contributions. Acute pain is associated with physiologic arousal (such as tachycardia and diaphoresis) and anxiety, whereas chronic pain is associated with no arousal; the patient may even seem withdrawn or depressed [30]. For acute pain, peripherally acting analgesics and narcotics work well, and treatment includes rest. Recovery is expected after treating or removing the nociceptive source. For chronic pain, peripherally acting analgesics are not often helpful, narcotics are usually contraindicated, and treatment frequently involves increased physical activity and behavioral or psychopharmacologic treatment. Because recovery is rare, patients must learn to cope. However, with refractory pain, sick-role behavior can also be seen, in which the patient makes unconscious efforts to maintain the illness state. 2. Is There a Pain History? Is this the only episode of significant pain, or does the patient have a long-standing history of painful gastrointestinal or other symptoms? Patients with frequent symptom episodes and visits to physicians for problems such as gastroenteritis, back pain, headache, and dysmenorrhea communicate a long-standing pattern of somatic sensitivity, pain behaviors, or both. This gives a poorer prognosis for recovery. 3.