GPs are good at spotting zebras on the commons
Professor Haslam reminds us that all kinds of birds fly by our windows and the GP needs to be able to recognise the rare bird among the pigeons (Practitioner 2008;252 :43).
Rare diseases actually play an important role in general practice and – more importantly – the GP can play an important role in the care of patients with rare diseases.
Research in our practice identified a wide variety of zebras and documented that for the majority of these patients the GP identified and diagnosed the conditions and provided continuing care.1
Family doctors specialise in the management of common problems, but we know little about their role in the care of patients with rare conditions so we set up a study to investigate this.
My three partners and I carried out an office record review of 100 patients with rare conditions in our practice. We analysed patient demographic characteristics, diagnoses, and the roles played by the GP in the patient's care, including diagnosis, treatment, referral, and long-term patient management.
We had cared for patients with a wide variety of rare disorders across the full spectrum of patient age (from newborn to 88 years old), affected organ systems and medical and surgical specialties.
Cases included: recurrent anaphylaxis to hops in a brewmaster, ovarian teratoma incarcerated in inguinal hernia, syphilitic aortitis, disseminated varicella, Horner syndrome caused by neuroblastoma, melanoma presenting as a pelvic mass, abnormal Pap smear in a male transsexual, a pertussis case identifying an epidemic, infant botulism and obsession-induced carotinaemia.
The diagnosis of diphtheria in one infant led to the discovery of the disease in four generations of the same family.
The GPs identified the problem in 89% of cases, diagnosed the disorder in 54%, provided acute care in 56% and continuing care in 76%. We consulted other doctors in 85% of cases. The condition was life threatening in 58% of patients.
GPs provide a broad range of services to a wide variety of patients with rare medical problems.
Family doctors can become experts in the diseases that occur in the patients they serve. If the doctor knows the patient that has the disease, the doctor can learn about the disease that the patient has.
Dr William Phillips GP, Seattle, Washington, USA