Zebras on the commons: rare conditions in family practice

Family physicians (FPs) specialize in the management of common problems, but we know little about their role in the care of patients with rare conditions.

To describe the roles FPs play in the identification and management of patients with rare conditions in a typical practice.

Office record review of 100 patients with rare conditions in the everyday, community-based, private practice of 4 FPs. Analysis of patient demographic characteristics, diagnoses, and the roles played by the FP in the patient's care, including diagnosis, treatment, referral, and long-term patient management.

These FPs cared for patients with a wide variety of rare disorders across the spectrum of patient age and sex, organ system involved, and medical specialty area. FPs identified the problem in 89%, diagnosed the disorder in 54%, provided acute care in 56%, and provided continuing care for 76% of patients. FPs consulted other physicians in 85% of cases. The condition was life threatening in 58% of patients.

Family physicians provide a broad range of services to a wide variety of patients with rare medical problems.