A review of the key features can form the basis of a problem-based search for differential diagnoses utilising web-based resources (for example, and phenomizer-orphanet: ). So what role does general practice have in rare disease diagnosis? Where there is suspicion, an accurate three-generation family history may provide clues of an inherited disease. It can help inform family planning, especially for inherited paediatric diseases where several children in a family may be affected before diagnosis, it informs prognosis and importantly, it assists the patient and family in gaining access to social and educational support. Early diagnosis can put an end to the exhausting diagnostic odyssey and diagnosis validates the individual’s symptomatology. These years can be defined by uncertainty, multiple hospital attendances, investigations, misdiagnoses, and inappropriate treatments with huge emotional cost and wasted time, effort and resources 2Įven in the absence of a disease-specific therapy, a prompt and accurate diagnosis is of huge value. Patients frequently describe a long and protracted ‘diagnostic odyssey’, taking years, or even decades. 4 Many patients with rare disease are un/misdiagnosed, particularly those with milder phenotypes presenting at later ages (for example Niemann–Pick disease Box 1).ĭIAGNOSING RARE DISEASES AND THE ROLE OF PRIMARY CARE Most rare diseases are severely disabling, life limiting and affect children, with 30% of patients not reaching their fifth birthday. 2, 5 Rare diseases therefore include those that we are familiar with (for example, cystic fibrosis and Guillain-Barré syndrome), and others that may have just a handful of patients worldwide. 4 Despite the vast number of rare diseases, only 100 conditions account for 80% of ‘rare patients’. 2 Eighty per cent of rare diseases have a genetic basis, 3 and genomic research has led to the determination of new diseases at a rate of five each week. We must be ready to think again and look out for the horse with stripes.Ī rare disease is defined by an incidence of <5 cases per 10 000 population, however the vast majority of the 7000 rare diseases are far less common. But it is not so useful when we consider our role in both diagnosing and supporting patients with rare diseases. The above adage is especially useful in primary care as many of the conditions we see are common. ‘When you hear hoofbeats, don’t expect to see a Zebra.’ 1
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