Zebras on the Commons: Rare Conditions in Family Practice

Methods

Each of 4 FPs in one private practice listed patients with rare conditions. No objective definition of “rare condition” is available to apply prospectively to selection of cases4,5; the physicians identified extraordinary cases in the context of their training and clinical experience in community-based practice. Doctors relied on memory aided by appointment records, office staff members, and notes of monthly case presentations. We included only new diagnoses seen in the office. Any diagnosis was included only once; we omitted other patients with the same condition. The author reviewed office records to determine the diagnosis, patient age, and sex, and the roles of the family doctor and consultants in the management of the patient’s rare condition. Progress notes, consultant reports, and other medical records established the role of the FP in each step of the process of care. Each patient was scored yes or no for the following questions regarding management of the rare condition. Did the FP identify the problem, establish the diagnosis, provide acute care, provide continuing care, and provide a family context for the patient’s care? Did a specialist physician provide consultation and/or definitive care for the rare condition? We truncated the list at 100 patients with the most remarkable conditions. Thus, simple frequencies equal percentage of patients with each characteristic.

The study practice comprised 4 residency-trained, board-certified, family physicians with 50 years of experience in aggregate. Over this period, each doctor saw approximately 20 patients a day and attended 20 births a year. The practice is located in a residential, urban community, and provides the full-spectrum of care, including maternity, hospital, emergency department, intensive care unit, coronary care unit, and long-term care.

Results

These 100 patients with rare conditions ranged in age from newborn to 88 years old, with 15 in their first year of life. Mean age for those over 1 year was 38.5 years. There were 54% female and 46% male.

The 100 conditions varied widely across the full range of disease category, affected organ system, and medical and surgical specialty area. Table 1 lists examples, categorized by specialty area. The condition was classified as acute in 33%, chronic in 50%, and developmental in 15% of patients. The condition was life-threatening in 58% of patients.

The family physicians played important roles in the care of the rare condition for most of these patients. The FP was the first to identify the problem in 89%, and established the definitive diagnosis in 54% of patients. The FP provided acute care for the problem in 56%, and continuing care in 76% of patients. Fourteen percent of these patients had been delivered by their family physician. The FP cared for the patient through their final illnesses in 17%. The FP provided a family focus to care that was important to management of the illness for 48% of patients. FPs sought consultation from subspecialty physicians for 85%.

In 62% of all patients, the subspecialists managed treatment of the rare condition. FPs sought second consultations for only 25% of patients. The subspecialties most frequently consulted were general surgery (13), cardiology (10), neurosurgery (9), and neurology (9). Consultation and specialist management were more common in patients with life-threatening conditions.

Discussion

All experienced clinicians have anecdotes about fascinomas, but few reports focus on experience with rare disorders in primary care.2,3 This simple descriptive study documents that patients with rare conditions can be an important part of family practice and that family physicians can play important roles their care. We drew data from contemporaneous clinical records that are likely to be accurate. The methods, however, have substantial limitations. The study details the experience of one practice in one community. Selecting cases by physician recall may over-represent the most memorable patients, with whom the doctor played an active role. No comparisons are made with other groups of patients or clinicians. It would be interesting to examine the experiences of general internists, pediatricians, and nonphysician primary care clinicians.

This study has the inherent limitations of a case series report. No agreed-upon criteria exist for classification of “rare disease.”4,5 We identified more than rare diseases, however; we studied patients with rare problems as they present to community-based clinicians. Remarkable cases include more than rare diseases. A rare condition may involve one or more of the features listed in Table 2, each illustrated with an example from our practice. Some cases are more remarkable for the context in which they occur. One family physician diagnosed amyotrophic lateral sclerosis in 3 patients in 1 week of office practice. The practice cared for three children in 3 years with craniosynostosis that required surgery. Finding diphtheria in 1 infant led to diagnosis of the disease in 4 generations of the same family.

Only patients with newly diagnosed conditions were included. In some cases, the condition existed before the patient presented, but the diagnosis was made after the patient came into our care. This allows us to describe the role of the FP in identifying and diagnosing these conditions. However, we cannot calculate incidence or prevalence rates. Denominators are always difficult to establish in community-based primary care practices without patient registries. Our recall sample provided no reliable numerators. Without these figures, we cannot determine the rate at which these patients presented in our practices. We did not collect data on visits, tests, or treatments and thus cannot estimate the workload or resources devoted to the care of these patients. We did not measure quality or outcomes of care. Further research should address these aspects of the care of patients with rare conditions in other primary care practices and patient populations.

This report discusses only patients seen in the family practice office. We excluded exceptional cases that these doctors have seen in training or in other settings, from botulism and bear bites in Alaska to beriberi and Bilharzia in Zimbabwe.

Family physicians can become experts in the diseases that occur in the patients they serve. If the physician knows the patient that has the disease, the physician can learn about the disease that the patient has. A major source of this education is often the patient, who can become a repository of information gathered over years from many sources: relatives, specialists, publications, and support groups. A patient living in a family with a hereditary disorder is witness to the natural history of its painful progression. A motivated patient armed with such information and insight can be a valuable ally.

This study describes only part of the care provided to these patients. Of course, most had concurrent health care needs. Patients with rare conditions have common needs, too. We have omitted from this report the demographic characteristics of individual patients to protect their identities. We have also omitted the much richer information that is usually known to personal and family physicians. Each of these cases is a human story. This is not just a study of rare diseases or memorable cases but of exceptional patients with special needs that offered us opportunities for professional care and personal growth.