The prevalence of underlying bleeding disorders in patients with heavy menstrual bleeding with and without gynecologic abnormalities

Knol, H. M.; Mulder, André B.; Bogchelman, Dick H.; Kluin-Nelemans, Hanneke C.; Zee, Ate G.J. van der; Meijer, Karina

doi:10.1016/j.ajog.2013.05.059

Cited by 48 publications

(56 citation statements)

References 33 publications

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“…Median FXI level was 96% (range 61%-155%); vs 124% in our previously published menstrual cycle-matched controls (Knol et al 2013). In 53% of the patients, the FXI level was <100% (Table 2).…”

Section: Resultsmentioning

confidence: 99%

“…Another limitation is that it was not possible to compare the patients with a control group of women with a normal amount of blood loss during their menstruation. However, it was possible to compare the FXI levels of our patients with a control group from our previous study (Knol et al 2013). In addition, because most of the SNVs that were found have previously been described, an extensive literature search was performed to determine the clinical significance of each SNV.…”

Section: Discussionmentioning

confidence: 99%

“…This study was performed because it was shown (Knol et al 2013) that women with HMB had lower mean FXI levels than menstrual cycle-matched controls. 29 different non-structural SNVs were detected in 49 patients with HMB.…”

Section: Discussionmentioning

confidence: 99%

“…In our previous study (Knol et al 2013), a 4% FXI deficiency (<70%) was found in unselected Dutch women with heavy menstrual bleeding (HMB). It was also found that patients had significantly longer activated partial thromboplastin time compared to controls (26.5 vs 25.0 s; p ¼ .001), despite higher levels of factor VIII.…”

Section: Introductionmentioning

confidence: 99%

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Factor 11 single-nucleotide variants in women with heavy menstrual bleeding

Wiewel-Verschueren

Mulder

Meijer

et al. 2017

Journal of Obstetrics and Gynaecology

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In a previous study it was shown that lower factor XI (FXI) levels in women with heavy menstrual bleeding (HMB). Our aim was to determine the single-nucleotide variants (SNVs) in the F11 gene in women with HMB. In addition, an extensive literature search was performed to determine the clinical significance of each SNV. Patients referred for HMB (PBAC-score >100) were included. With direct sequencing analysis of all 15 exons and flanking introns of the F11 gene, 29 different non-structural SNVs were detected in 49 patients with HMB. Interestingly, most of these SNVs have previously been associated with venous thrombosis instead of bleeding. These findings have not helped to elucidate the molecular basis of HMB. They also question the specificity of previously reported F11 variations in patients with thrombosis. More studies are needed to explain the lower FXI levels seen in patients with HMB. IMPACT STATEMENTWomen with mild deficiencies of factor XI (FXI) (< 70%) are prone to excessive bleeding during menstruation. Bleeding manifestations are not well correlated with plasma FXI levels and bleeding episodes can vary widely among patients with similar low FXI levels. In a previous study we showed that women with heavy menstrual bleeding (HMB) had normal, but on average, lower levels of FXI than controls. In light of these findings, we performed F11 gene analysis to determine the single-nucleotide variants (SNVs) in women with HMB and performed an extensive literature search to determine the clinical significance of each SNV. By direct sequencing analysis of the F11 gene we found 29 different non-structural SNVs in 49 women with heavy menstrual bleeding. Remarkably, a number of these SNVs have previously been implicated in thrombosis. These findings have not helped to elucidate the molecular basis of lower FXI levels in HMB. They also question the specificity of previously reported F11 variations in patients with thrombosis. More studies are needed to explain the lower FXI levels seen in patients with HMB.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Factor 11 single-nucleotide variants in women with heavy menstrual bleeding

Wiewel-Verschueren

Mulder

Meijer

et al. 2017

Journal of Obstetrics and Gynaecology

Self Cite

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“…Bu tür olgularda artan F VII düzeyleri koruyucu olabilmekte, profilaksi her zaman gerekmemektedir. 13 Bu nedenle doğum sırası ve sonrasında verilecek replasman tedavisi hastanın kliniğine göre şekillendirilmelidir. Biz de olgumuzda öncelikle TDP replasmanı uygulamış ancak sebat eden INR yüksekliği olması nedeniyle olası F VII eksikliğini düşünerek rec F VII derivesi uyguladık.…”

Section: Discussionunclassified

A Rare Cause of Bleeding Disorder in Pregnancy: Late Diagnosed Factor VII Deficiency: Case Report

Şahin¹,

Karabulut²,

Demirtaş³

et al. 2015

Turkiye Klinikleri J Gynecol Obst

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aktör VII (F VII) eksikliği, otozomal resesif kalıtım gösteren nadir bir doğumsal koagülasyon bozukluğudur. F VII eksikliğinin, 13. kromozomun uzun kolunda bulunan F VII geninde meydana gelen mutasyonlar sonucu oluştuğu bulunmuştur. Kanama diyatezleri içerisinde kalıtsal koagülasyon bozuklukları nadir görülse de bu grubun içinde en sık karşılaşı-lan tablodur. 1/500 000 sıklıkla görülür, ancak genel popülasyondaki prevalansının asemptomatik bireyler nedeniyle daha sık olduğu düşünülmektedir.

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