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. 2025 Oct 14;23(1):560.
doi: 10.1186/s12916-025-04398-z.

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

Lisette J A Kogelman  1   2   3 , Dorte Rytter  4 , Lone Hummelshoj  5 , Karina Ejgaard Hansen  4 , Ulrik Bak Kirk  4   6 , Juliane Lyng Beauchamp  7 , Jakob Thaning Bay  8 , Mie Topholm Bruun  9 , Nanna Brøns  10 , Christian Erikstrup  11   12 , Bitten Aagaard  13 , Bertram Dalskov Kjerulff  11 , Christina Mikkelsen  10   14 , Susan Mikkelsen  11 , Sisse Rye Ostrowski  10   15 , Ole Birger Pedersen  8   15 , Erik Sørensen  10 , Henrik Ullum  16 ; DBDS Genomic Consortium; Anne Karmisholt Grosen  17 , Christian Lodberg Hvas  18   19 , Valgerdur Steinthorsdottir  20 , Kari Stefansson  20 , Karina Banasik  7   21 , Palle Duun Rohde  22 , Henriette Svarre Nielsen  7   15 , Mette Nyegaard  22   16
Collaborators, Affiliations

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

Lisette J A Kogelman et al. BMC Med. .

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.

Keywords: Comorbidities; Endometriosis; Genetic burden; Polygenic score.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: The DBDS has the necessary permissions and approval from the Danish Data Protection Agency (2007–58-0015) and the Scientific Ethical Committee system (M-20090237). Consent to participate: All participants provided informed oral and written consent to participate. Consent for publication: Not applicable. Competing interests: CLH received research support from Novo Nordisk Foundataion (grant no. NNF22OC0074080) and lecture fees from BMS, Janssen, Tillotts, Servier, and Merck. All other authors do not report any conflicts of interest.

Figures

Fig. 1
Fig. 1
Summary of findings of comparing women with endometriosis with age-matched controls
Fig. 2
Fig. 2
A Density plot of the endometriosis polygenic score (PGS) in healthy females, patients with moderate endometriosis, and patients with severe endometriosis; B PGS divided into deciles and the proportion of cases are counted per decile (numbers of controls are written above the bars, number of cases written in the bars); and C for each PGS decile, the odds ratio (OR) for endometriosis is estimated (error bars indicate standard error of the estimate; reference decile was set to decile 5)
See this image and copyright information in PMC

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