Hereditary/Acquired Bleeding Disorders

Presentation

An 18-year-old woman presents with a referral from her primary care provider (PCP) for work-up for a possible bleeding disorder, due to a history of easy bruising and heavy menstrual bleeding. She reports having experienced bruising over her extremities since she was a young child, as well as oral mucosal bleeding two to three times per month when she brushes her teeth or eats hard foods. There is no history of dental extractions, and she denies a history of nosebleeds, gastrointestinal bleeding, or hematuria.

Her menses started at age 13. They are regular at 30 days but have always been heavy. She also reports menstrual cycles lasting up to 2 weeks. She typically uses five pads/tampons per day for the first 5–7 days, and says her menses saturate at least 80% of these feminine products. Her menstrual flow typically slows over the next week of her cycle, during which time she passes blood clots and there is flooding/bleeding onto her clothing and bed linens. She denies having cramps during menstruation.

She has been treated occasionally with iron for anemia since the onset of menses. She reports no past medical history of other significant illnesses, surgery, or hospitalization. The patient’s mother has a history of heavy menstrual bleeding and has undergone a hysterectomy.

Evaluation and Diagnosis

The patient is alert with some fatigue; no fever; vital signs within normal limits; BMI of 28.74 kg/m²; no organomegaly; and no cervical or axillary adenopathy. She has warm, dry, large bruises on her lower extremity. She has neither hematomas nor pallor.

Laboratory results from her PCP are as follows: CBC (complete blood count) unremarkable with normal platelet count; CMP (comprehensive metabolic panel) also unremarkable; PT (prothrombin time) within normal limits at 34 seconds; and PTT (partial thromboplastin time) within normal limits at 10.6 seconds. von Willebrand studies performed by the patient’s pediatrician are notable for low factor VIII activity at 43% of normal, low von Willebrand factor (VWF) antigen at 43%, and low ristocetin activity at 38%.

Because of her history and abnormal testing results, testing was repeated at Children’s Hospital Los Angeles, with the following results: factor VIII activity at 63.5% of normal; VWF antigen at 42%; and VWF activity at 31.7%, with decreased multimers consistent with type 1 VWD.

Laboratory test results confirmed the diagnosis of type 1 VWD secondary to a bleeding history of easy bruising, mostly on the extremities, as well as heavy menstrual bleeding.

Treatment

The treatment plan for this patient included Amicar (aminocaproic acid; antifibrinolytic agent) at 3.0 g Q6H PRN for her prolonged oral mucosal bleeding; Lysteda (synthetic lysine, to slow breakdown of blood clots) at 1300 mg PO TID on the first 5 days of menses; Stimate (desmopressin acetate nasal spray, 1.5 mg/mL, to boost levels of factor VIII and VWF), 1 spray in each nostril (note Stimate is on hold secondary to recall¹); and VWF-containing factor product at 50 units/kg PRN if she has major bleeding or as prophylaxis prior to invasive procedures or surgeries.

Hormonal therapy with oral contraceptive pills (OCPs) to reduce menstrual bleeding was discussed; the patient said she would like to try other medications before considering OCPs. She was advised to return to the clinic in 2 months, with a repeat CBC and iron profile planned.

Discussion

Education of the patient and her female family members is essential in VWD, a common, inherited bleeding disorder. Patient education about VWD type 1 was provided to this young woman and her mother, and laboratory results were reviewed with both of them. The patient was advised to avoid blood-thinning medications such as aspirin or ibuprofen, as well as any pills containing these medications. She was told to call the hematology clinic if she developed pallor or heavier menses; and prior to any dental work, other invasive procedures, or surgeries. Testing for VWD was recommended to her mother.

Updated clinical guidelines for diagnosis and management of VWD were published in January 2021, reflecting improved understanding of the pathophysiology of this complex illness.²

References

1. Abdullah AI. Nasal desmopressin recall affects availability through 2023. Hemophilia News Today. February 12, 2021.
2. American Society of Hematology. ASH ISTH NHF WFH clinical practice guidelines on von Willebrand disease. January 2021.