Abstract
INTRODUCTION: Hereditary hemochromatosis (HH) is the most common autosomal recessive disorder in Caucasians, characterized by inappropriate dietary iron absorption. Physician counseling is important, as lifestyle habits including alcohol use, red meat consumption, and vitamin-C and iron intake may affect ferritin levels, and first degree family members of patients with HH should receive screening. The goal of this study was to assess lifestyle habits and physician counseling among patients with HH. METHODS: This was a survey study among patients evaluated at a dedicated clinic for HH at a tertiary medical center. A survey was created assessing demographic information, disease specific information, lifestyle habits, and physician counseling of patients with HH, and emailed to the study participants. Continuous variables were summarized with the sample mean and standard deviation. Categorical variables were summarized with number and percentage of patients. RESULTS: The survey was emailed to 379 patients previously evaluated in HH clinic, with 101 (26.6%) survey responses, of which 73 (72%) reported a diagnosis of HH. The mean age of diagnosis was 48.5, 41% of patients reported symptoms from HH, and the mean duration of symptoms was 11.9 years (Table 1). The most bothersome symptoms were joint pain (43.3%) and extreme fatigue (30.0%). Notably, 50% and 37% of patients reported red meat consumption and alcohol use respectively on a more than weekly basis (Table 2). 38.9% of participants reported taking a vitamin C supplement. Among patients with children and siblings, physicians failed to recommend HH screening 15.3% and 21.2% of the time respectively (Table 3). CONCLUSION: This is the first study to our knowledge reporting lifestyle habits and physician counseling among patients with HH. Despite the association between alcohol and the clinical expression of HH, regular alcohol use is common in 37% of patients. Not all patients receive counseling on important topics such as dietary habits or the screening of first degree family members for HH, which have important implications for the long term management and early detection of this disease.Table 1.: Disease characteristics among patients with hereditary hemochromatosisTable 2.: Lifestyle habits among patients with hereditary hemochromatosisTable 3.: Physician counseling of patients with hereditary hemochromatosis
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