Underdiagnosis of hereditary haemochromatosis; A retrospective study of 362,275 patients

Abstract

Abstract Background: Hereditary haemochromatosis is the most common known inherited disease in Caucasians. Pathological iron accumulation in tissues is known to cause cirrhosis, hepatocellular carcinoma and other manifestations. While early diagnosis and treatment can prevent the consequences of this disease, reports of this disorder suggest that it is underdiagnosed. Aims: The purpose of the current study was to compare the expected prevalence of hereditary haemochromatosis, based on the positive predictive values of increased transferrin saturation, to the actual number of patients that have been diagnosed.Methods: Medical record data of 362,275 adult patients were collected at one tertiary care center. An increase in transferrin saturation (above 50% for women and 60% for men) is a marker for hereditary haemochromatosis with 86% positive predictive value.Results: 1597 patients from the cohort had increased transferrin saturation. Considering the positive predictive values, the expected number of patients having hereditary haemochromatosis would be 1377 (0.38% of the cohort). 74 patients from the cohort were previously diagnosed with haemochromatosis or iron overload. The expected prevalence of hereditary haemochromatosis in the cohort is at least 18.6 times higher than that was actually diagnosed. Conclusion: Hereditary haemochromatosis is an underdiagnosed disease. We found that the expected prevalence in our cohort is comparable with reported population data. The discrepancy between the number of actually diagnosed patients and the expected number is enormous. Increasing the awareness for the diagnosis of this disorder and potentially changing the current recommendations for screening are necessary towards improving the clinical outcomes in these patients.