Laboratory misdiagnosis of von Willebrand disease in post-menarchal females: A multi-center study.

Increased awareness of von Willebrand Disease (VWD) has led to more frequent diagnostic laboratory testing, which insurers often dictate be performed at a facility with off-site laboratory processing, instead of a coagulation facility with onsite processing. Off-site processing is more prone to preanalytical variables causing falsely low levels of von Willebrand Factor (VWF) due to the additional transport required. Our aim was to determine the percentage of discordance between off-site and onsite specimen processing for VWD in this multicenter, retrospective study.

The impact of extended half-life factor concentrates on prophylaxis for severe hemophilia in the United States.

With licensure of extended half-life (EHL) factor products and the changing landscape of available hemophilia products, patients and providers have options for less treatment-intense prophylaxis. The impact of these products in clinical practice to date remains understudied. We aimed to quantify the use of EHL products in prophylaxis in the US using the ATHN-dataset, a database of 145 ATHN-affiliated hemophilia treatment centers (HTCs).

A presumed case of Darbepoetin-induced myocardial infarction in the patient with MDS-RARS.

Our case is only the 2nd such reported case of atherothrombosis from ESAs and highlights the increased risk of cardiovascular events in patients receiving erythropoietin-stimulating agents specially patients with underlying MDS where targeting a lower hemoglobin goal and optimizing other cardiovascular risk factors might be beneficial in preventing future cardiovascular mortality.

Bleeding disorders in adolescents with heavy menstrual bleeding in a multicenter prospective US cohort.

Heavy menstrual bleeding is common in adolescents. The frequency and predictors of bleeding disorders in adolescents, especially with anovulatory bleeding, are unknown. Adolescents referred for heavy menstrual bleeding underwent an evaluation of menstrual bleeding patterns, and bleeding disorders determined The primary outcome was the diagnosis of a bleeding disorder.

Evolution of replacement therapy for von Willebrand disease: From plasma fraction to recombinant von Willebrand factor.

The diagnosis and treatment of von Willebrand disease (VWD) are challenging, in part because patients exhibit a wide range of bleeding patterns and manifestations (e.g. epistaxis, gingival bleeding, heavy menstrual bleeding, gastrointestinal bleeds, postoperative bleeding, hemarthroses) and in part because many tests are required to make an accurate diagnosis.

Regional variation and cost implications of prescribed extended half-life factor concentrates among U.S. Haemophilia Treatment Centres for patients with moderate and severe haemophilia.

Background: Extended half-life (EHL) factor VIII (FVIII) and IX (FIX) products are intended to decrease the burden of prophylaxis for patients with haemophilia A or B. Whether these newer concentrates have led to meaningful clinical practice change remains vague.

Aim: To characterize the longitudinal use of standard (SHL) and EHL factor concentrates at haemophilia treatment centres (HTCs), using the ATHNdataset, a US database of 138 ATHN-affiliated HTCs.

A cross-sectional analysis of cardiovascular disease in the hemophilia population.

Men with hemophilia were initially thought to be protected from cardiovascular disease (CVD), but it is now clear that atherothrombotic events occur. The primary objective of the CVD in Hemophilia study was to determine the prevalence of CVD and CVD risk factors in US older men with moderate and severe hemophilia and to compare findings with those reported in age-comparable men in the Atherosclerosis Risk in Communities (ARIC) cohort. We hypothesized if lower factor levels are protective from CVD, we would see a difference in CVD rates between more severely affected and unaffected men.

Antifibrinolytic therapy for preventing VWD-related postpartum hemorrhage: indications and limitations.

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Ledipasvir-sofosbuvir and sofosbuvir plus ribavirin in patients with chronic hepatitis C and bleeding disorders.

Introduction: Chronic hepatitis C virus (HCV) infection is prevalent among patients with inherited bleeding disorders and is a leading cause of mortality in those with haemophilia.

Aim: We evaluated the efficacy and safety of ledipasvir-sofosbuvir and sofosbuvir plus ribavirin in patients with chronic HCV genotype 1-4 infection and an inherited bleeding disorder.

Methods: Ledipasvir-sofosbuvir was administered for 12 weeks to patients with genotype 1 or 4 infection and for 12 or 24 weeks to treatment-experienced cirrhotic patients with genotype 1 infection.

Present day management of inherited bleeding disorders in pregnancy.

Introduction: How specifically to prevent post-partum haemorrhage (PPH) remains a challenge in pregnant women with an inherited bleeding disorder. There exists a morbidity of 5-10% of patients as well as increased mortality.

Areas Covered: This review will survey the literature based on Medline review and various society monographs.

Developing a multidisciplinary Young Women's Blood Disorders Program: a single-centre approach with guidance for other centres.

Introduction: Bleeding from the reproductive tract in women is a natural event, generally occurring with menstruation and childbirth. Women with an underlying bleeding disorder may experience heavy menstrual bleeding (HMB) and thereby, unacceptable blood loss. Up to 20% of US women with abnormal uterine bleeding and a normal gynaecological exam may have an underlying bleeding disorder corresponding to almost 2-3 million American women.

An update on the management of bleeding disorders during pregnancy.

Purpose Of Review: The morbidity and mortality of postpartum hemorrhage (PPH) in women with an underlying bleeding disorder requires vigilance by the hematologist.

Recent Findings: Recent studies suggest that women with underlying bleeding disorders may be 'undertreated' at the time of delivery in aiming for too low a target elevation that historically per numerous society guidelines has aimed for VWF/FVIII:C levels to be 'only' greater than 50% when in actuality the levels should be akin to what is achieved in a normal pregnancy. The result appears to be an increase in the rate and degree of PPH.

Emerging therapies for hemophilia: a new era of care and the role of the interdisciplinary team.

The introduction of new hemophilia management therapies, targeting extended half-lives through bioengineering, ushers in an era of potential promise and increasing complexity, more so for those with hemophilia B than hemophilia A. Questions arise for patients, caregivers, and hemophilia treatment center (HTC) staff about how to assess and incorporate novel therapies and how to determine whether new therapies offer a distinct advantage over established treatment routines. Nurses and other interdisciplinary HTC staff are well positioned to assess, educate, and support patients and families in navigating this rapidly changing landscape.

Multisite management study of menorrhagia with abnormal laboratory haemostasis: a prospective crossover study of intranasal desmopressin and oral tranexamic acid.

The optimal management of menorrhagia among women with abnormal laboratory haemostasis is uncertain. In a crossover study, 116 women with menorrhagia [pictorial blood assessment chart (PBAC) score >100], negative gynaecological evaluation and abnormal laboratory haemostasis were randomly assigned to either intranasal desmopressin (IN-DDAVP) or tranexamic acid (TA) therapy for two menstrual cycles. The subjects then crossed over to the second study drug for two additional cycles.

Bleeding symptom assessment and hemostasis evaluation of menorrhagia.

Purpose Of Review: Because menorrhagia is a very common clinical condition reported by 5-10% of women of reproductive age, and in turn, because up to half of women with a normal gynecological evaluation will have laboratory abnormalities of hemostasis, it is incumbent on the part of the hematologist to be able to carry out a logical clinical and laboratory assessment for an underlying bleeding disorder after gynecological causes are ruled out.

Recent Findings: Historically, the bleeding assessment of patients with bleeding symptoms in general, has been inaccurate due to the poor specificity of these symptoms. Recently, these symptoms have been refined and incorporated into a scoring system.

Aspects of the laboratory identification of von Willebrand disease in women.

The increased prevalence of the laboratory diagnosis of von Willebrand disease (vWD) in women presenting with menorrhagia has raised concerns regarding certain specifics in vWD testing in women, including when vWD testing should be done in relation to menses and whether testing should be done while the patient is not taking an oral contraceptive (OC). These concerns have been based on historical reports that vWF and factor (F) VIII:coagulant activity levels can decrease during menses and conceivably increase the probability of diagnosing vWD when the patient is menstruating, whereas hormone therapy can increase the vWF levels and conceivably mask the diagnosis of vWD. Historically, the reports of a decrease in vWF levels during menstruation have been in a relatively small total number of patients; this has not been confirmed in two recent studies.

Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features.

Hereditary hemochromatosis is a common disorder of iron metabolism most frequently associated with mutations in the HFE gene. Hereditary hemochromatosis may be caused by other less common genetic mutations including those in the ferroportin gene. Whereas hereditary hemochromatosis associated with HFE mutations is an autosomal recessive disorder, essentially all cases of hereditary hemochromatosis associated with ferroportin mutations follow an autosomal dominant pattern of inheritance, and most cases are notable for the lack of an elevated transferrin saturation and presence of iron deposition in Kupffer cells.

Prophylactic treatment of severe factor X deficiency with prothrombin complex concentrate.

Factor X (FX) deficiency is an autosomal recessive trait that occurs in fewer than 1 in 500 000 people. Not surprisingly, reports of prophylactic treatment for FX deficiency are exceedingly rare. We now report our experience of the use of prophylactic therapy in a FX-deficient patient.

Gynaecological and obstetrical morbidity in women with type I von Willebrand disease: results of a patient survey.

Type 1 von Willebrand disease (vWD) is generally regarded clinically as 'mild' and the obstetrical-gynaecological features have not been fully described. We administered a patient questionnaire and provider survey of the medical and quality of life aspects of childbirth and menstruation to 99 type 1 vWD patients and compared the patients presently menstruating (n=81) to a cohort of 150 menstruating females in the general population. The following measurements had a statistically higher proportion in the vWD group: number of tampons/towels used for a typical menstrual cycle (P=0.

The substantial impact of von Willebrand disease on menstruation.

von Willebrand disease (vWd) is the most common of all congenital bleeding disorders with an estimated prevalence of 1-3% in the general population. However, the gynecological complications have not been thoroughly described.Objective: To compare the clinical and quality of life aspects of vWd in menstruating women in relation to a cohort of menstruating women in the general population.