Zebras on the Commons: Rare Conditions in Family Practice

BACKGROUND: 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. OBJECTIVE: To describe the roles FPs play in the identification and management of patients with rare conditions in a typical practice. METHODS: 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. RESULTS: 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. CONCLUSIONS: Family physicians provide a broad range of services to a wide variety of patients with rare medical problems.