多発性内分泌腫瘍1 型(MEN1)患者における心理的影響と 遺伝カウンセリング(GC):生活の質に関する懸念への対応

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  • Psychological impact and genetic counseling in patients with multiple endocrine neoplasia type 1(MEN1): addressing quality of life concerns

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Multiple endocrine neoplasia type 1(MEN1)is an autosomal dominantly inherited disease that causes tumors in various endocrine and non-endocrine organs and requires cross-sectional and long-term healthcare management.In patients with MEN1, anxiety affects quality of life(QOL), not only because of concerns about health care, but also due to the hereditary nature of the disease. In this study, we examined the psychological impact of MEN1 on patients and the influence of genetic counseling(GC). After conducting a preliminary survey, a questionnaire battery was sent to MEN1 patients recruited from 3 medical institutions and a patient association in Japan. Responses from 76 patients were analyzed(response rate 54%). High correlation coefficients were found between the Mental health subscale of the 36-Item Short Form Health Survey version 2 as a standardized QOL scale and two anxiety scales, the Hospital Anxiety and Depression Scale and State-Trait Anxiety Inventory. The highest component of anxiety concerned “transmission to children and grandchildren”, which was significantly higher in the group that received GC. Low QOL has been reported in patients with MEN1. Although GC provides psychological support, the information provided additional to genetic information may increase anxiety. Thus, while the usefulness of GC in hereditary diseases is widely recognized, to ensure its value for individuals, it is necessary to consider each person’s background and emotional state and bear in mind its possible risks.

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