A 16-year-old girl presents to your office complaining of heavy menstrual cycles since menarche. Her cycles last 15 days on average and she changes her pads every hour on the heaviest days. She often passes large clots and misses at least 1 day of school per cycle. Should you be concerned?
Studies have shown that 1 in 5 women who consult their doctor for heavy or prolonged bleeding during their periods actually have an underlying bleeding disorder.1 The proportion is postulated to be even higher for adolescents.2 A study that looks at all admissions to a children’s hospital over a 9-year time period for acute menorrhagia in adolescence found a primary coagulation disorder in almost 20% of 59 adolescent patients and in 50% of those who presented at menarche. In this study, 25% of the adolescents had a hemoglobin of less than 10 g/100ml on admission, and one-third required a transfusion.3
Bleeding disorders can have major downstream health consequences, including iron deficiency anemia, the need for blood transfusions, increased bleeding during and after surgeries, postpartum bleeding, poor wound healing, and an increased risk of hysterectomy. A survey from the Centers for Disease Control and Prevention (CDC) reported that women with bleeding disorders are also more likely to have 1 or more of several other gynecologic conditions, including hemorrhagic ovarian cysts, endometriosis, polyps, and fibroids.4
Early recognition of a bleeding disorder can have a major impact on a patient’s quality of life. Because ob/gyns are often the first to evaluate menstrual bleeding concerns it is extremely important that they have a comprehensive understanding of appropriate screening measures and treatment options for patients with suspected bleeding disorders.
Inherited bleeding disorders
Von Willebrand disease
In a 2002 CDC survey of 376 ob/gyns across the United States, only 4% of respondents claimed that they would consider von Willebrand disease (vWD) as the cause of heavy menstrual bleeding (HMB) in a woman of reproductive age, and only 6% of respondents would consider it in a girl near menarche.5 The responses substantially improved in a similar survey conducted in 2012, when 39% reported that they would consider a bleeding disorder as causing HMB in women of reproductive age and 77% would consider this an option in adolescents.6
vWD is the most common inherited bleeding disorder, with an overall prevalence of 0.6% to 1.3%.7 It has an autosomal-dominant inheritance pattern and is caused by a missing or defective von Willebrand factor (vWF), a clotting protein. vWF binds to both factor VIII, a key clotting protein, and to platelets, to form a platelet plug during the clotting process. There are 3 types of vWD, which vary in severity. Type 1 is the most common (60% to 80% of cases) and is relatively mild. The disease is diagnosed more often in females because of the presentation of HMB - according to a systematic review of 11 studies involving 988 women, the prevalence of vWD in women presenting with HMB was reported to be as high as 13% to 24%.8 Research has suggested that as many as 9 of 10 individuals with vWD remain undiagnosed.9 (For a full discussion of vWD, see the May 2017 issue of Contemporary OB/GYN.)
Platelet function defects
Platelet dysfunction leads to impaired clot formation and includes disorders of platelet adhesion, aggregation, secretion, or procoagulant activity. Acquired platelet dysfunction is common with use of certain medications, such as aspirin. Data on the prevalence of platelet dysfunction in women presenting with HMB are very limited, as it is very difficult to diagnose due to the need for highly complex and specialized testing. Some studies, however, have shown a prevalence upwards of 47% in women with HMB and a higher incidence among African- American women than Caucasians.10
Coagulation factor deficiencies
Women with coagulation factor deficiencies have low levels of a specific blood protein, such as factors I (fibrinogen), II, V, VII, X, XI, and XIII. A deficiency in any of these factors makes it difficult for a blood clot to form. The exact prevalence of these disorders is unknown, but deficiencies of this type are relatively rare and are estimated to occur in approximately 1 out of 500,000 individuals.11 The most common factor deficiencies involve factors VIII (Hemophilia A) and IX (Hemophilia B).
Hemophiliac disorders represent the most common severe inherited bleeding conditions. Hemophilia largely affects males, as it is an X linked genetic condition. Females are carriers, but may also exhibit mild to severe bleeding symptoms as carriers. Hemophilia A (a deficiency in clotting factor VIII) affects approximately 1 in 10,000 individuals, and Hemophilia B (a deficiency in clotting factor IX) affects approximately one in 50,000. An estimated 10% to 57% of women with HMB are hemophilia carriers.2