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Published on: September 7, 2021
Comorbidity landscape of the Danish patient population affected by chromosome abnormalities
Isabella Friis Jørgensen1, Francesco Russo1, Anders Boeck Jensen2
1Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Insights
Understanding chromosome abnormalities is key for long-term patient care. This study reveals unique comorbidity patterns for conditions like Down syndrome (DS), highlighting the impact of mosaicism and sex on health outcomes.
Area of Science:
- Genetics and genomics
- Clinical medicine
- Population health
Background:
- Chromosome abnormalities necessitate lifelong medical attention.
- Recognizing mosaicism and comorbidities is crucial for effective patient management.
- Population-wide comorbidity analysis can inform healthcare strategies.
Purpose of the Study:
- To conduct a population-wide analysis of direct and inverse comorbidities in patients with chromosome abnormalities.
- To identify unique comorbidity signatures for prevalent chromosome abnormalities.
- To investigate the influence of mosaicism and sex on clinical presentation and health risks.
Main Methods:
- Utilized the Danish National Patient Registry (1994-2015) for 6.9 million hospitalizations.
- Extracted comorbidity data for 11 common chromosome abnormalities including trisomies, sex chromosome aneuploidies, and microdeletion syndromes.
- Performed sub-analyses for Down syndrome (DS) and Fragile X syndrome (FXS) based on sex and mosaicism status.
Main Results:
- Analyzed data from 9,003 patients with chromosome abnormalities.
- Identified distinct comorbidity profiles for each abnormality, with clustering suggesting shared risks among genetically similar conditions.
- Observed a reduced risk of specific cancers in DS patients and more severe phenotypes in male FXS and non-mosaic DS patients compared to their counterparts.
Conclusions:
- Chromosome abnormality care requires consideration of individual comorbidity profiles.
- Mosaicism and patient sex are significant factors influencing health outcomes.
- This research provides a foundation for personalized, long-term healthcare planning for individuals with chromosome abnormalities.
Purpose:
Most chromosome abnormality patients require long-term clinical care. Awareness of mosaicism and comorbidities can potentially guide such health care. Here we present a population-wide analysis of direct and inverse comorbidities affecting patients with chromosome abnormalities.
Methods:
We extracted direct and inverse comorbidities for the 11 most prevalent chromosome abnormalities from the Danish National Patient Registry (covering 6.9 million patients hospitalized between 1994 and 2015): trisomy 13, 18, and 21, Klinefelter (47,XXY), triple X, XYY, Turner (45,X), Wolf-Hirschhorn, Cri-du-chat, Angelman, and Fragile X syndromes (FXS). We also performed four sub-analyses for male/female Down syndrome (DS) and FXS and non-mosaic/mosaic DS and Turner syndrome.
Results:
Our data cover 9,003 patients diagnosed with at least one chromosome abnormality. Each abnormality showed a unique comorbidity signature, but clustering of their profiles underlined common risk profiles for chromosome abnormalities with similar genetic backgrounds. We found that DS had a decreased risk for three inverse cancer comorbidities (lung, breast, and skin) and that male FXS and non-mosaic patients have a much more severe phenotype than female FXS and mosaic patients, respectively.
Conclusion:
Our study underlines the importance of considering mosaicism, sex, and the associated comorbidity profiles of chromosome abnormalities to guide long-term health care of affected patients.
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