The patient was first diagnosed with VWD at age of 9 months, when she presented to her local hospital with prolonged bleeding from a lip wound after a fall. She was found to have prolonged APTT and VWD was diagnosed. Bleeding stopped following transfusion of learn more factor concentrate and tranexamic acid (TA). The patient’s parents are first cousins. She has two sisters, one is 2 years older and the other sister is 3 years younger than her. Both her parents and her older sister were subsequently diagnosed with type 1 VWD. She had very few bleeding episodes requiring treatment with factor concentrate as a young child until age 5,
when multiple dental caries caused abscess in her gums leading to the extraction of ten teeth. She had prolonged bleeding after tooth extractions resulting in severe anaemia (Hb 7.1 g dL−1). Thus, she was commenced on regular
factor replacement therapy, TA 250 mg qds and TA mouthwash until the completion of her dental treatment. At age of 6 years, she had an episode of severe epistaxis resulting in haematamesis and was treated with factor concentrate and TA administration. The bleeding continued despite treatment, Therefore, nose pack, intravenous desmopressin (DDAVP, 0.3 mcg kg−1) and a pool of platelets were administered. The patient’s haemoglobin dropped to 5.3 g dL−1. She was transfused Selleck FDA-approved Drug Library 3 units of packed red cells and had nasal cauterization with silver nitrate under general anaesthesia. The patient moved to Dubai with her family. At age of 9, during a visit to UK, she attended the haemophilia centre for review. Discussion took place with her and her parents regarding the onset of menstruation and its management. this website They were advised this would definitely
include the use of factor concentrate. Lack of this form of treatment outside UK was also discussed. The patient returned to UK permanently at age of 14 and presented to our centre. She reported having an emergency laparoscopy for acute abdominal pain at age of 12. Consequently, she underwent right ovarian cystectomy and appendicectomy under cover of cryoprecipitate. The operating surgeon reported to the patient and her family a right ovarian cyst that was removed and a normal left ovary, but no mention on the status of the uterus and the tubes. She had not had any period, but reported regular monthly pain lasting 2–3 days. Her secondary sexual characteristics were compatible with her age. Abdominal and pelvic ultrasound was performed and revealed multiple haemorrhagic bilateral ovarian cysts, but uterus could not be seen. Magnetic resonance imaging (MRI) was then arranged and reported absent uterine and cervical tissues with no recognizable upper vaginal tissues. There were also no vaginal tissues seen between the urethra and rectum on axial views at the level of symphysis pubis, indicating absence of the mid third of vagina as well.