Table 9.

Best-practice considerations for screening, diagnosis and management of inherited bleeding disorders in female adolescents and adults

Consideration no.	Consideration	Quality of evidence/strength of recommendation*
General
1	IBDs should be considered in the differential diagnosis of all female adolescents and adults presenting with menorrhagia.	High/strong
2	The understanding and recognition of the increased morbidity and low health-related quality of life among female adolescents and adults with menorrhagia, regardless of the etiology, is important for improving patient-oriented health outcomes.	High/strong
3	Adolescents and adults with IBDs should have timely access to regional–provincial hematologic, genetic, obstetric, gynecologic and pediatric multidisciplinary services for screening, diagnosis, education, care and continuing health care support.	High/weak
Screening
4	Primary care or gynecologic care providers: a chart defining the minimum criteria for significant bleeding, a history-related bleeding severity scoring tool (ISTH-BAT [International Society on Thrombosis and Haemostasis – Bleeding Assessment Too]) and a validated graphical scoring system tool (pictorial bleeding assessment chart) are simple and practical methods that can be used by patients to quantify their blood loss.	High/strong
5	Primary care provider should review in detail a list of the patient’s prescription and nonprescription (including over-the-counter and naturopathic products) medications to identify possible medications and products that increase the risk of bleeding.	Low/weak
6	Primary care providers with adolescent or adult patients presenting with menorrhagia or with positive results from the validated screening assessment tools, or both, should consider obtaining a laboratory bleeding assessment panel (complete blood count, platelet count, ferritin level, fibrinogen level, prothrombin time test and International Normalized Ratio), activated partial thromboplastin time and vWD investigations (factor VIII level, vWF antigen level and functional assay). If a low platelet count is present, further platelet testing (functional and aggregation) should be considered. Thyroid screening can be included if screening testing gives normal results.	Moderate/strong
7	Primary care or pediatric care providers: female adolescents in families with a history of vWD or other IBDs should be tested before the onset of menses to determine whether they have inherited the disease, to allow both the patient and her family to prepare for her first and subsequent menstrual periods.	Moderate/strong
8	Primary care or pediatric care providers: when possible, investigations should be done before oral contraceptive therapy is instituted, as the hormonally induced increase in factor VIII and vWF levels may mask the diagnosis.	Moderate/strong
Diagnosis
9	Adolescents and adults with a confirmed diagnosis of vWD should be described based on the quantitative (type 1 autosomal dominant, type 3 autosomal recessive) or qualitative (type 2, 2A, 2B, 2M, 2N) evidenced-based subtype.	Moderate/strong
10	Adolescents and adults with a confirmed diagnosis of a hemophilia A or B phenotype should be described (and re-evaluated as required) based on the clinical risk category criteria (mild, moderate, severe, symptomatic carrier, asymptomatic carrier).	Moderate/strong
11	Adolescents and adults with a confirmed diagnosis of a hemophilia A or B phenotype should be described based on their genetic inheritance mechanism (homozygosity, compound heterozygosity, hemizygosity, heterozygosity, other).	Moderate/strong
12	Adolescent and adults with an inherited platelet disorder should be described based on the specific platelet etiology, given the very low prevalence, the association with people from a consanguineous union, and the variable quantitative and qualitative pathology.	Moderate/strong
Management
13	Treatment of menorrhagia in adolescents and adults with IBDs should be individualized according to the defined inherited etiology.	Moderate/weak
14	Primary care providers or gynecologic care providers: an IBD is not a contraindication to hormonal therapy (oral contraceptives [II-IB], depot medroxyprogesterone acetate [II-3B], danazol [II-2B], gonadotrophin-releasing hormone analogues [II-3B]), or local treatments (levonorgestrel-releasing intrauterine system [II-IB]) and nonhormonal therapy (tranexamic acid [II IB]), as well as desmopressin (II-IB). These therapies represent first-line treatment. Blood products should not be used for patients with mild bleeding disorders (III-A).	High/strong High/strong
15	In women with IBDs who no longer want to preserve their fertility, conservative surgical therapy (ablation) and hysterectomy may be options.	High/strong
16	To minimize the risk of intraoperative and postoperative hemorrhage, coagulation factors should be corrected preoperatively and monitored postoperatively.	Moderate/strong
17	Pregnancy care providers for women with IBDs should adopt a multidisciplinary consultation and care approach, including primary care, obstetrics, maternal–fetal medicine, internal medicine, anesthesia and neonatology. A copy of the multidisciplinary planning recommendations should be given to the patient, and she should be instructed to present it to the health care provider admitting her to the birthing location, as well as ensuring a directed copy is provided to the birthing location. Women with severe bleeding disorders or with a fetus at risk for a severe bleeding disorder should give birth in a hospital (level 3) or where there is access to consultants in obstetrics, anesthesiology, hematology and pediatrics.	High/strong
18	Pregnancy care providers: owing to the varied etiologies of IBDs, the third-trimester and intrapartum prophylactic or treatment use of coagulation factor replacement, use of tranexamic acid or desmopressin, and platelet transfusion must be clearly agreed on and documented by the team in the second trimester; it may be altered later owing to clinical changes in the pregnancy.	Moderate/weak
19	Pregnancy care providers: vacuum extraction, use of forceps and fetal scalp electrodes, and fetal scalp blood sampling should be avoided if the fetus is known or thought to be at risk for a congenital bleeding disorder. Cesarean delivery should be performed for obstetric indications only.	High/strong
20	Pregnancy anesthesia providers: epidural anesthesia and spinal anesthesia are contraindicated if there is a coagulation defect. There is no contraindication to regional anesthesia if coagulation is normalized. The decision to use regional anesthesia should be made on an individual basis.	High/strong
21	Pregnancy: the risk of early and late postpartum hemorrhage is increased in women with bleeding disorders. Women with IBDs should be advised about the possibility of excessive postpartum bleeding and instructed to report this to their care provider immediately.	Moderate/strong
22	Neonatology: intramuscular injections, surgery and circumcision should be avoided in neonates at risk for a severe IBD until adequate investigation and preparation are possible.	High/strong

IBD = inherited bleeding disorder; vWD = von Willebrand disease; vWF = von Willebrand factor.

^*GRADE (Grading of Recommendations, Assessment, Development, and Evaluations) system.