Rare Coagulation Factor Deficiencies

Jain, Shilpa; Acharya, Suchitra S.

doi:10.1007/978-3-030-48446-0_5

Cited by 2 publications

(8 citation statements)

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“…Determining the accurate prevalence of dysfibrinogenemia and hypofibrinogenemia is challenging due to a large number of asymptomatic individuals [ 13 ]. Congenital fibrinogen disorders account for 7–10% of Rare Clotting Factor Deficiencies [ 11 ]. Diagnosis is confirmed by showing reduced activity and/or reduced levels of immunoreactive FIB in the plasma [ 25 ].…”

Section: Discussionmentioning

confidence: 99%

“…Factor VII deficiency initially was described in 1951 and it constitutes 28–36% of Rare Coagulation Factor Disorders making it the most common among them [ 11 ]. It is estimated that 1:300,000–500,000 have severe homozygous deficiency, while 1:350 are heterozygotes [ 32 ].…”

Section: Discussionmentioning

confidence: 99%

“…As mentioned above, the worldwide prevalence of RCFDs has been estimated to be between 3% and 8%. Out of those, FXI is thought to account for 23–32% [ 11 ]. Regarding the incidence of FXI deficiency among women with HMB, in a 1998 study by Kadir et al [ 38 ], the prevalence of FXI deficiency in patients with objectively confirmed menorrhagia was 4% (with a 95% confidence interval from 1.5–8.5%).…”

Section: Discussionmentioning

confidence: 99%

“…The aim of HMB management is to prevent serious bleeding episodes, replete iron storage, ameliorate quality of life, and reduce morbidity. Recommendations regarding the management of other bleeding events and surgeries in these women rely on the published literature and expert opinions [ 11 ]. In acute bleeding settings, the need for hemostatic treatment is determined by the remaining factor levels, the severity and location of bleeding, and the history of previous bleeding events.…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Clotting Factor Deficiencies as an Underlying Cause of Abnormal Uterine Bleeding in Women of Reproductive Age: A Literature Review

Livanou,

Matsas,

Valsami

et al. 2023

Life

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Clotting Factor deficiencies are rare disorders with variations in clinical presentation and severity of symptoms ranging from asymptomatic to mild to life-threatening bleeding. Thus, they pose a diagnostic and therapeutic challenge, mainly for the primary health care providers, general practitioners, and gynecologists who are more likely to first encounter these patients. An additional diagnostic challenge arises from the variable laboratory presentations, as PT, PTT, and BT are not always affected. The morbidity is higher among women of reproductive age since Abnormal Uterine Bleeding–specifically Heavy Menstrual Bleeding–is one of the most prevalent manifestations of these disorders, and in some cases of severe deficiencies has led to life-threatening episodes of bleeding requiring blood transfusions or even immediate surgical intervention. Physician awareness is important as, in the case of some of these disorders–i.e., Factor XIII deficiency–prophylactic treatment is available and recommended. Although uncommon, the potential for rare bleeding disorders and for hemophilia carrier states should be considered in women with HMB, after more prevalent causes have been excluded. Currently, there is no consensus on the management of women in these instances and it is reliant on the physicians’ knowledge.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Clotting Factor Deficiencies as an Underlying Cause of Abnormal Uterine Bleeding in Women of Reproductive Age: A Literature Review

Livanou,

Matsas,

Valsami

et al. 2023

Life

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show abstract

“…The deficiency of coagulation factors, including fibrinogen or Factor I (FI), prothrombin or FII, FV, FVII, FVIII, FIX, FX, FXI, and FXIII, and combined factor deficiencies such as FV and FVIII are considered as rare bleeding disorders (RBDs) [ 2 ]. The worldwide distribution of RBDs has been estimated to be 3–5% by the World Federation of Hemophilia (WFH) [ 3 ]. Based on the previous data, FVII deficiency is the most common, while FII deficiency is the rarest bleeding disorder [ 4 ].…”

Section: Introductionmentioning

confidence: 99%