PB1128 - Challenges in the management of gynecological bleedings and pregnancies in a woman with severe haemophilia A

Tuesday, July 12, 2022

6:30 PM – 7:30 PM

Location: Exhibition

Presentation Format: In-Person

Presenting Author(s)

EC

Eugénia Cruz, MD, PhD

Consultant Physician, MD, PhD
Thrombosis and Hemostasis Unit, Clinical Haematology Service, Centro Hospitalar Universitário do Porto, Porto, Portugal
Porto, Porto, Portugal

Co-Author(s)

MC

Maria Coutinho

MD, Assistent in Hematology
Thrombosis and Haemostasis Unit, Centro Hospitalar Universitário do Porto, Porto, Portugal
Porto, Porto, Portugal
FL

Fernanda Leite

MD, PhD, Consultant in Hematology
Thrombosis and Haemostasis Unit, Centro Hospitalar Universitário do Porto, Porto, Portugal
Porto, Porto, Portugal
LM

Lurdes Moreira

Lab Technician
Thrombosis and Hemostasis Unit, Clinical Haematology Service, Centro Hospitalar Universitário do Porto, Porto, Portugal
Porto, Porto, Portugal
NP

Norival Pinho

Lab Technician
Thrombosis and Hemostasis Unit, Clinical Haematology Service, Centro Hospitalar Universitário do Porto, Porto, Portugal
Porto, Porto, Portugal
NS

Nilsa Seidi

Lab Technician
Thrombosis and Hemostasis Unit, Clinical Haematology Service, Centro Hospitalar Universitário do Porto, Porto, Portugal
Porto, Porto, Portugal
SM

Sara Morais

Senior Physician, MD
Thrombosis and Hemostasis Unit, Clinical Haematology Service, Centro Hospitalar Universitário do Porto, Porto, Portugal
Porto, Porto, Portugal

Background: Severe hemophilia A is a serious condition and is even more critical in women. Besides common haemorrhagic symptoms (hemarthrosis and/or hematomas), women may have increased risk of developing gynaecological bleedings. Also challenging is the management of gestation and delivery.

Aims: Here we describe the clinical case of a severe haemophilia A female.

Methods: Sporadic severe haemophilia A female, homozygous for the F8 intron 22 inversion resulting from a maternally inherited distal inversion and a paternally inherited de novo, also distal inversion. Furthermore, the maternally inherited F8 was transcriptionally inactive.

Results: Since the diagnosis, she had several bleeding episodes, including hemarthrosis (knees and elbows) and muscle hematomas. She started regular prophylaxis at age of 11 before menarche to prevent gynecological bleedings. Besides symptoms of severe haemophilia, she also had life-threatening gynaecological bleeding (ovarian hemorrhagic cysts that resulted in right oophorectomy and annexectomy).
When she decided to be a mother, she was oriented to preimplantation diagnosis with gender selection and transfer of female embryos. After two unsuccessful procedures, she decided accepting the risk of giving birth to an affected child. She had two pregnancies without bleeding complications, under 3x/week prophylaxis in the first, and 2x/week in the second pregnancy, and was submitted to two caesareans.
Pharmacokinetic (PK) studies performed at 28-years-old revealed a FVIII half-life of 15.1 hours and FVIII in-vivo recovery of 3.2 (IU/dL per IU/Kg). During first pregnancy, PK studies, at 12, 31 and 35 weeks of gestation, revealed FVIII half-lives of 17.8, 19.9 and 17.7 hours and FVIII in-vivo recovery of 2.36, 3.58 and 3.26 (IU/dL per IU/Kg), respectively.

Conclusion(s): This report underlines the difficulties in management of gynecological bleedings in women with severe haemorrhagic disease and the management of successful pregnancies and deliveries with a multidisciplinary approach. Additionally it shows an increase of FVIII half-life, during pregnancy.