The burden of endometriosis on quality of life in Danish women: an analysis of the Danish Blood Donor Study.

IF 8.3 1区医学 Q1 MEDICINE, GENERAL & INTERNAL

BMC Medicine Pub Date : 2025-10-14 DOI:10.1186/s12916-025-04398-z

Lisette J A Kogelman, Dorte Rytter, Lone Hummelshoj, Karina Ejgaard Hansen, Ulrik Bak Kirk, Juliane Lyng Beauchamp, Jakob Thaning Bay, Mie Topholm Bruun, Nanna Brøns, Christian Erikstrup, Bitten Aagaard, Bertram Dalskov Kjerulff, Christina Mikkelsen, Susan Mikkelsen, Sisse Rye Ostrowski, Ole Birger Pedersen, Erik Sørensen, Henrik Ullum, Anne Karmisholt Grosen, Christian Lodberg Hvas, Valgerdur Steinthorsdottir, Kari Stefansson, Karina Banasik, Palle Duun Rohde, Henriette Svarre Nielsen, Mette Nyegaard

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引用次数: 0

Abstract

Background: Endometriosis is a complex condition with a wide range of comorbidities. It is widely underdiagnosed, with a diagnostic delay of 4 to 10 years, potentially leading to worsened disease progression and a higher burden of comorbidities affecting quality of life. Understanding the link between endometriosis and its comorbidities is essential for improving early detection of the disease.

Methods: We analysed data from 953 women with a clinical diagnosis of endometriosis and 23,652 age-matched female controls enrolled in the Danish Blood Donor Study, using a case-control design. Participants completed one to four questionnaires covering a wide range of potential comorbidities; genetic data were available for a subset of participants. First, we compared the potential comorbidities between women with endometriosis and controls. Next, we investigated whether a polygenic score (PGS) for endometriosis was associated with those comorbidities. Lastly, we investigated whether women with a high genetic burden of endometriosis (highest PGS decile) experienced similar comorbidities to those diagnosed with endometriosis.

Results: Women with endometriosis experienced challenges in conception, gastrointestinal symptoms, and disturbed sleep patterns, compared to age-matched controls. The endometriosis PGS showed to be a predictor for endometriosis (OR per unit PGS = 1.43, 95% CI = 1.32-1.55). Gastrointestinal symptoms were also nominally associated with the endometriosis PGS, suggesting shared genetic pathways. Women without a diagnosis of endometriosis but with a high genetic burden of endometriosis did not suffer from the same wide range of comorbidities as women diagnosed with endometriosis.

Conclusions: Our findings highlight the complex genetic and clinical relationships between endometriosis and its comorbidities, emphasizing the need for future research investigating potential endometriosis subtypes.

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子宫内膜异位症对丹麦妇女生活质量的影响：对丹麦献血者研究的分析

背景：子宫内膜异位症是一种复杂的疾病，具有广泛的合并症。该病普遍未得到充分诊断，诊断延迟4至10年，可能导致疾病进展恶化，并增加影响生活质量的合并症负担。了解子宫内膜异位症及其合并症之间的联系对于改善疾病的早期发现至关重要。方法：采用病例对照设计，我们分析了953名临床诊断为子宫内膜异位症的女性和23,652名年龄匹配的女性对照者的数据，这些女性参加了丹麦献血者研究。参与者完成了一到四份问卷，涵盖了广泛的潜在合并症；有一部分参与者的遗传数据可用。首先，我们比较了子宫内膜异位症女性和对照组的潜在合并症。接下来，我们研究了子宫内膜异位症的多基因评分（PGS）是否与这些合并症有关。最后，我们调查了子宫内膜异位症高遗传负担（最高PGS十分位数）的女性是否与诊断为子宫内膜异位症的女性有相似的合并症。结果：与年龄匹配的对照组相比，患有子宫内膜异位症的女性在受孕、胃肠道症状和睡眠模式方面面临挑战。子宫内膜异位症PGS显示为子宫内膜异位症的预测因子（OR /单位PGS = 1.43, 95% CI = 1.32-1.55）。胃肠道症状在名义上也与子宫内膜异位症PGS相关，提示有共同的遗传途径。未被诊断为子宫内膜异位症但具有子宫内膜异位症高遗传负担的妇女与被诊断为子宫内膜异位症的妇女相比，没有同样广泛的合并症。结论：我们的研究结果强调了子宫内膜异位症及其合并症之间复杂的遗传和临床关系，强调了未来研究潜在子宫内膜异位症亚型的必要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

BMC Medicine 医学-医学：内科

CiteScore

13.10

自引率

1.10%

发文量

435

审稿时长

4-8 weeks

期刊介绍： BMC Medicine is an open access, transparent peer-reviewed general medical journal. It is the flagship journal of the BMC series and publishes outstanding and influential research in various areas including clinical practice, translational medicine, medical and health advances, public health, global health, policy, and general topics of interest to the biomedical and sociomedical professional communities. In addition to research articles, the journal also publishes stimulating debates, reviews, unique forum articles, and concise tutorials. All articles published in BMC Medicine are included in various databases such as Biological Abstracts, BIOSIS, CAS, Citebase, Current contents, DOAJ, Embase, MEDLINE, PubMed, Science Citation Index Expanded, OAIster, SCImago, Scopus, SOCOLAR, and Zetoc.