Management of Pregnancy in a Chilean Patient with Congenital Deficiency of Factor VII and Glanzmann’s Thrombasthenia Variant

Abstract

Patients with inherited bleeding disorders are rare in obstetric practice but present with prolonged bleeding even after minor invasive procedures. They require a combined approach with obstetric and hematological management of each case, including the neonatal management of a possibly affected fetus. We present the case of a pregnancy in a patient with combined Factor VII deficiency and Glanzmann's thrombasthenia, the successful obstetric and hematological management of the case, and a review of the literature.

Diagnosis and treatment discussion of congenital factor VII deficiency in pregnancy: A case report

“…When the patient’s blood routine test is normal, the following items are excluded: History of vitamin K deficiency, liver disease, biliary system disease, rheumatic and immune system disease (lupus disease, antiphospholipid antibody syndrome, and so on)[ 16 ], malabsorption, diffuse intravascular coagulation, anticoagulant treatment, malignant tumor, long-term antibiotics, severe infection, sepsis, etc. When the laboratory examination shows prolonged PT with normal APTT or both PT and APTT are normal[ 17 ] (with an exception for the causes of abnormal bleeding and pregnancy failure caused by related diseases), then FVIID should be suspected. The prolonged PT can be corrected by normal plasma[ 18 ], while the decrease in the FVII activity and the detection of the F7 gene[ 2 ] can further confirm congenital FVIID in patients.…”

“…The bleeding is suggested to be prevented 30-60 min before the elective cesarean section and in vaginal delivery when the cervix is opening fully. Murray et al [ 17 ] recommended that the activity of FVII in cesarean section patients should reach 50%.…”

A rare case of Glanzmann's thrombasthenia and factor VII deficiency due to a combination of pathogenic and non‐pathogenic gene variants

“…Only one article on the management of FVII deficiency and GT in pregnancy is published till date. 10 An interesting aspect in this case is that FVII deficiency is manifested due to cumulative impact of three polymorphisms, that is rs36208070 and rs561241 in the promoter region, and R353Q (rs6046) in exon 8 of F7. The case highlights the fact that such cases can easily be misdiagnosed as isolated mild factor deficiency, had there been no discrepancy between the laboratory diagnosis and the severity of bleeding.…”

“…10 An interesting aspect in this case is that FVII deficiency is manifested due to cumulative impact of three polymorphisms, that is rs36208070 and rs561241 in the promoter region, and R353Q (rs6046) in exon 8 of F7. Only one article on the management of FVII deficiency and GT in pregnancy is published till date.…”

Management of Abdominoperineal Excision of the Rectum in a Patient with Glanzmann Thrombasthenia

“…Haemostasis was achieved in all of the cases. The cases are summarized in Table 1 [4][5][6][7][8][9][10][11][12][13][14][15].…”