Congenital Factor X deficiency in women: A systematic review of the literature.

Factor X deficiency (FXD) is a rare autosomal recessive bleeding disorder with a variable phenotypic severity. In women, heavy menstrual bleeding (HMB), recurrent ovulation bleeding with haemoperitoneum and bleeding complications in pregnancy such as retroplacental haematoma and postpartum haemorrhage have been reported. The aim of this review was to examine gynaecological problems and obstetric complications in women with congenital FXD. A total number of 49 relevant articles were identified, including 332 women, dating from 1960 to 2018. Heavy menstrual bleeding was reported in 72/284 (25%) women in total, 14/30 (47%) in case reports and 58/254 (23%) in 11 case series, 64% and 10% required blood products and blood transfusion, respectively. Haemoperitoneum from ovulation bleeding or ruptured haemorrhagic ovarian cyst requiring blood transfusion occurred in 8/322 (2.4%) women, six required surgical intervention, including oophorectomy in two. 31 pregnancies were reported in 19 women. There were four miscarriages (including a late miscarriage at 21 weeks). There was a high rate of preterm birth and neonatal death occurring in eight (30%) and three (11%) of pregnancies reaching viability stage. Postpartum haemorrhage (PPH) occurred in six (22%) of deliveries, one requiring hysterectomy. In conclusion, women with FXD are at an increased risk of heavy bleeding during menstruation and ovulation as well as adverse pregnancy outcome and postpartum haemorrhage. Collaboration in a multidisciplinary team including an obstetrician/gynaecologist, a perinatologist and a haematologist is necessary for the prevention and management of these complications.

Congenital factor V and VIII deficiency in women: a systematic review of literature and report of two new cases.

Factor V and factor VIII deficiency (F5F8D) is a rare congenital bleeding disorder. There is a paucity of data in the literature about obstetric and gynaecological problems in women affected by F5F8D. The aim of this review was to examine obstetric complications and gynaecological problems in women with congenital F5F8D and present two new cases. An electronic search was performed to identify the published literature on PUBMED, MEDLINE and EMBASE databases using the following keywords 'congenital factor V and factor VIII deficiency' and 'women or pregnancy'. A total of 23 relevant articles were found and included in this systematic review: 15 case reports and 10 case series dating from 1976 to 2015. A total number of 86 women were identified. Heavy menstrual bleeding was the most common bleeding symptom in women (49%). Recurrent ovulation bleeding and haemorrhagic ovarian cyst were reported in three women. Nineteen pregnancies were reported (including our two case reports). There were no miscarriages. Postpartum bleeding occurred in six (32%) deliveries. In conclusion, data are very limited on gynaecological and obstetric problems in women with F5F8D. Heavy menstrual bleeding is a common problem. There is also an increased risk of postpartum haemorrhage. Close collaboration between haemophilia, obstetric and gynaecological teams is important to prevent and manage obstetric and gynaecological bleeding complications.

Esophageal Achalasia: An Uncommon Complication during Pregnancy Treated Conservatively.

A 38-year-old Caucasian woman, gravida 3 para 2, was admitted at 29 weeks of gestation because of vomiting, dysphagia for solids and liquids, and loss of weight. An enlargement of the anterior left neck region was noted on the palpation of the thyroid gland. An MRI of the neck showed a marked esophageal dilatation with the presence of food remnants along its length and the displacement of the trachea to the right. The findings of the upper gastrointestinal endoscopy and manometry were suggestive of esophageal achalasia. Conservative management with total parenteral nutrition (TPN) through a peripheral line proved to be successful. A healthy male baby was born by a cesarean section at 37 weeks. The patient underwent laparoscopic esophageal myotomy and fundoplication seven days postpartum.

Vulvar and breast Paget's disease with synchronous underlying cancer: a unique association.

BACKGROUND: We report a unique case of Paget's disease of vulva and breast. Sequentially the patient had invasive ductal carcinoma of the breast, 5 years later was diagnosed with vulvar Paget's with underlying adenocarcinoma and after another 2 years was diagnosed with Paget's disease of the breast. CASE: A 58-year-old woman with invasive ductal cancer of the left breast was treated with lumpectomy, lymph node dissection, radiation therapy and tamoxifen. Five years later and after complaints of longstanding vulvar pruritus, the patient was diagnosed with vulvar Paget's disease and treated with simple vulvectomy, which revealed a concurrent underlying adenocarcinoma. Subsequently there was recurrence of vulvar malignancy and wide local excision was performed. Seven years after the initial diagnosis of the breast cancer, a biopsy of a left areolar red, ulcerated lesion revealed Paget's disease of the breast. CONCLUSION: Physicians need to be cognizant of the rare occurrence of mammary and extramammary Paget's disease with underlying malignancies in both locations. A thorough physical examination including biopsy is essential for early detection and appropriate management.