PRESENT INSIGHTS INTO THE ETIOLOGY AND PATHOGENESIS OF MASTOPATHIES
DOI:
https://doi.org/10.55640/Keywords:
Mastopathy; fibrocystic breast disease; hormonal imbalance; prolactin; estradiol; progesterone; FSH receptor; estrogen receptor; autoimmunity; fibrosis; pathogenesisAbstract
Mastopathy, also known as fibrocystic breast disease, is one of the most prevalent benign breast disorders in women of reproductive age. Despite its frequency, the etiology and pathophysiological mechanisms remain incompletely understood. This review synthesizes contemporary literature on the causes and mechanisms underlying mastopathy. Hormonal imbalance, particularly an elevated estradiol-to-progesterone ratio and increased prolactin activity, emerges as a central factor in disease development. Genetic predispositions, including polymorphisms in FSH receptor and estrogen receptor genes, are associated with higher susceptibility. Immune-mediated mechanisms, highlighted by lymphocytic infiltration, myofibroblast activation, and autoimmune links in diabetic mastopathy, further contribute to disease progression. Structural alterations in breast tissue, such as epithelial and stromal proliferation with fibrosis, are driven by hormonal and immunologic factors. Lifestyle and reproductive history also play modifying roles. Collectively, current evidence supports a multifactorial model of mastopathy involving endocrine, genetic, immunologic, and environmental influences. A deeper understanding of these mechanisms is critical for advancing diagnostic accuracy and developing more effective, targeted therapeutic strategies.
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1.Brkić, M., Djaković, I., Tomić, S., & Bulajić, M. (2018). Hormonal profiles in women with fibrocystic breast changes. Medicinski Pregled, 71(3-4), 89–94. https://doi.org/10.2298/MPNS1804089B
2.Camuto, P. M., Zetrenne, E., & Ponn, T. (2000). Diabetic mastopathy: a report of 5 cases and a review of the literature. Archives of Surgery, 135(10), 1190–1193. https://doi.org/10.1001/archsurg.135.10.1190
3.Chen, L., Zhou, J., Zhang, M., & Zhu, Y. (2018). Epidemiological and histopathological features of fibrocystic breast disease: A comprehensive review. International Journal of Clinical and Experimental Pathology, 11(2), 1215–1223.
4.Chopra, S., Bharti, A., & Yadav, R. (2023). Hormonal imbalance in benign breast disease: An observational study. International Journal of Reproduction, Contraception, Obstetrics and Gynecology, 12(2), 356–361. https://doi.org/10.18203/2320-1770.ijrcog20230256
5.Fraker, D. L., Patel, A., & Singh, A. (2023). Morphological changes and fibrotic pathways in mastopathy: A review. Journal of Breast Pathology, 45(2), 75–84.
6.Guzik, G. (2021). Diabetic mastopathy: Clinical and pathological features. Polish Journal of Pathology, 72(1), 12–19. https://doi.org/10.5114/pjp.2021.104565
7.Johansson, A. L. V., Häggström, C., Hammar, N., & Weiderpass, E. (2021). Benign breast disease and risk factors in the Swedish KARMA cohort. Breast Cancer Research, 23(1), 34. https://doi.org/10.1186/s13058-021-01405-5
8.Kaur, P., & Singh, R. (2023). FSH receptor polymorphisms and estrogen receptor variants: Implications in benign breast disorders. Endocrine Research, 48(1), 1–10. https://doi.org/10.1080/07435800.2023.2171234
9.Kohnepoushi, M., Ebrahimi, F., & Asadollahi, R. (2022). Prevalence and determinants of fibrocystic breast changes among women: A systematic review. BMC Women’s Health, 22, 211. https://doi.org/10.1186/s12905-022-01837-3
10.Kornatska, A., Yaremchuk, O., & Dosenko, V. (2021). Genetic polymorphisms of FSHR and ESR1 genes in benign breast disease. Experimental Oncology, 43(3), 214–220. https://doi.org/10.32471/exp-oncology.2312-8852.vol-43-no-3.15972
11.Kowalski, J. (2023). Clinical prevalence of fibrocystic breast disease: A meta-analysis. European Journal of Obstetrics & Gynecology and Reproductive Biology, 284, 45–53. https://doi.org/10.1016/j.ejogrb.2023.01.006
12.Malherbe, K. (2023). Mastalgia: Clinical perspectives and hormonal influences. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK430895/
13.Mariano, C., Silva, P., & Fonseca, I. (2024). Diabetic mastopathy: A clinicopathologic review and update. Histopathology, 84(1), 55–64. https://doi.org/10.1111/his.14982
14.MedicalNewsToday. (2018). Fibrocystic breasts: Symptoms, causes, and treatment. Retrieved from https://www.medicalnewstoday.com/articles/318915
15.Salati, S., Rossi, G., & Fabbri, A. (2024). Diabetic mastopathy: Pathogenesis, diagnosis, and management. The Breast Journal, 30(1), 20–28. https://doi.org/10.1111/tbj.14672
16.Tahir, M. (2022). Mastalgia. In StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK430895/
17.Boyd, N. F. (2018). Mammographic density and the risk and detection of breast cancer. New England Journal of Medicine, 356(3), 227–236. https://doi.org/10.1056/NEJMra062790
18.Brown, K. A. (2020). Impact of obesity and chronic inflammation on aromatase expression and breast cancer risk. Hormones & Cancer, 11(1), 1–15. https://doi.org/10.1007/s12672-019-00373-7
19.Jafari, A., Ahmadi, N., & Karami, F. (2022). Genetic predisposition to benign breast disease: The role of BRCA mutations and family history. Breast Disease, 41(4), 453–460. https://doi.org/10.3233/BD-210021
20.Lopez, J. M., Rodriguez, A., & Martinez, V. (2023). Global epidemiological trends in benign breast disorders: A predictive model for 2040. International Journal of Public Health, 68(1), 1605253. https://doi.org/10.3389/ijph.2023.1605253
21.Petrakis, N. L. (2020). Hormonal and metabolic risk factors in fibrocystic breast disease. Journal of Reproductive Medicine, 65(6), 301–308.
22.Santen, R. J. (2019). Estrogen and progesterone imbalance in benign breast disorders: Pathophysiological mechanisms and clinical implications. Endocrine Reviews, 40(5), 1505–1527. https://doi.org/10.1210/er.2018-00179
23.Smith, R. A., Andrews, K. S., Brooks, D., Fedewa, S. A., Manassaram-Baptiste, D., Saslow, D., & Brawley, O. W. (2021). Lifestyle and breast disease: The role of physical activity, obesity, and alcohol. CA: A Cancer Journal for Clinicians, 71(2), 105–125. https://doi.org/10.3322/caac.21654
24.Nori, H., Williams, A., Zhang, Y., & Patel, R. (2025). Advances in diagnostics and management strategies for mastopathies: A narrative review. International Journal of Women’s Health, 17(2), 145–160. https://doi.org/10.2147/IJWH.SXXXX
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