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DIAGNOSING HAEMOCHROMATOSIS: ARE CLINICIANS GETTING RUSTY?
Hereditary haemochromatosis (HH) is the commonest autosomal recessive disease in those of North European descent. Although in Ireland the homozygote frequency in the HFE gene is 1:83, this is not reflected in the number of individuals recognised to have HH. Ryan and colleagues wanted to know whether the discrepancy was because the early symptoms of HH were non-specific or because the C282Y mutation had incomplete penetrance. They studied 79 homozygous individuals and 30 HH probands, and concluded that failure to recognise this condition was more likely to be due to under-diagnosis.See page 108
ONCE NON-ULCER DYSPEPSIA; NOT ALWAYS NON-ULCER DYSPEPSIA
Hsu and colleagues report the results of a study that might cause some endoscopic distress to clinicians. Patients with endoscopy-negative …
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