Assessment of rare bleeding disorders in adolescents with heavy menstrual bleeding

被引:0
|
作者
Sharma, Ruchika [1 ,5 ]
Johnson, Victoria [2 ]
Pan, Amy [3 ]
Sellers, Austin [4 ]
Betensky, Marisol [4 ]
Goldenberg, Neil [4 ]
Flood, Veronica H. [2 ,3 ]
机构
[1] Univ Texas Southwestern Med Ctr, Dept Pediat, Div Hematol Oncol BMT, Dallas, TX USA
[2] Versiti Blood Ctr Wisconsin, Ctr Comprehens Bleeding Disorders, Milwaukee, WI USA
[3] Med Coll Wisconsin, Dept Pediat, Div Pediat Hematol Oncol BMT, Milwaukee, WI USA
[4] John Hopkins All Childrens Hosp, Inst Clin & Translat Res, St Petersburg, FL USA
[5] 5323 Harry Hines Blvd, Dallas, TX 75390 USA
关键词
bleeding; bleeding disorder of unknown cause; heavy menstrual bleeding; VON-WILLEBRAND-DISEASE; TRANEXAMIC ACID; PLASMINOGEN-ACTIVATOR; PLATELET DISORDERS; FACTOR-VIII; WOMEN; GENERATION; TYPE-1; VARIANTS; MUTATION;
D O I
10.1111/hae.14961
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
IntroductionThere are a significant number of patients with mucocutaneous bleeding, specifically heavy menstrual bleeding (HMB), who do not have a diagnosed bleeding disorder. These patients receive nontargeted interventions and may have suboptimal treatments. Functional assays, particularly for fibrinolytic and rare platelet function defects, are not robust and not readily available.AimWe aimed to prospectively evaluate the prevalence of genetic defects associated with rare bleeding disorders and describe alterations of coagulation and fibrinolysis in a cohort of adolescents with HMB.MethodsWe performed a prospective observational cohort study of patients with HMB and unexplained bleeding. The study utilized a next generation sequencing panel and investigational global assays of coagulation and fibrinolysis. Additionally, specific functional assays were performed to help characterize novel variants that were identified.ResultsIn 10 of the 17 patients (similar to 59%), genetic variants were identified on molecular testing. Thrombin generation by calibrated thromboelastography was not significantly altered in this patient population. The clot formation and lysis assay showed a trend towards increased fibrinolysis with rapid phase of decline in 23% of the patients. Further corresponding functional assays and study population are described.ConclusionOur study describes a unique correlative model in a homogenous cohort of patients with HMB and unexplained bleeding which may inform future diagnostic algorithms, genotype-phenotype correlations as well as aid in specific targeted treatment approaches. Larger future studies may inform risk stratification of patients and improve health related outcomes in patients with HMB.
引用
收藏
页码:490 / 496
页数:7
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