PB0703 - Prophylaxis with human coagulation factor X in an adolescent girl with hereditary major Stuart factor deficiency.

Monday, July 11, 2022

6:30 PM – 7:30 PM

Location: Exhibition

Presentation Format: In-Person

Co-Author(s)

FZ

Franck ZEKRE

Hematology and Oncology Pediatric Unit, Saint Etienne France
Chu Saint Etienne
SAINT-ETIENNE, Rhone-Alpes, France
FT

Faustine TARDY

Hematology and Oncology Pediatric Unit, Saint Etienne France
CHU Saint-Etienne
SAINT-ETIENNE, Rhone-Alpes, France
AB

Alexandre BIGUET PETIT JEAN

Pharmacy Department, University Hospital Saint-Etienne France
CHU SAINT-ETIENNE
SAINT-ETIENNE, Rhone-Alpes, France
ST

Sandrine THOUVENIN

Hematology and Oncology Pediatric Unit, Hemophilia CRC Hospital of Saint Etienne France
CHU SAINT-ETIENNE
SAINT-ETIENNE, Rhone-Alpes, France
CL

Coline LEGENDRE

Laboratory Department, University Hospital Saint-Etienne France
CHU SAINT-ETIENNE
SAINT-ETIENNE, Rhone-Alpes, France
PN

Pauline NOYEL

Laboratory Department, University Hospital Saint-Etienne France
CHU SAINT-ETIENNE
SAINT-ETIENNE, Rhone-Alpes, France
PD

Philippe DE MAZANCOURT

MD, PdD
Laboratoire de biologie moléculaire, AP-HP, Hôpital Ambroise Paré, F-92100, Université Paris Saclay, Inserm, UMR 1179, F-92100 Boulogne-Billancourt, France
Paris, Ile-de-France, France
BT

Brigitte TARDY

INSERM CIC 1408, Laboratory of Hematology, France
CHU SAINT-ETIENNE
SAINT-ETIENNE, Rhone-Alpes, France

Presenting Author(s)

Claire Berger, MD PhD

Hemophilia CRC Hospital, INSERM, U 1059, Jean Monnet University,
Saint-Etienne, Rhone-Alpes, France

Background: FX or Stuart Factor deficiency is a rare constitutional hemorrhagic disorder of autosomal recessive transmission. Its incidence is estimated at 1/1,000,000 inhabitants. The hemorrhagic phenotype is variable. Twenty-seven cases are listed in the France Coag registry (inclusion criteria: FX < 10%) in 2021.

Aims: To describe prophylaxis with a specific human product.

Methods: We report the case of a young girl, 18 years old, with a major factor X deficiency.

Results: She presented with rectal bleeding at 15 days of age, which prompted a coagulation assay showing a prothrombin index < 5%, APTT 102 s, factor X < 1%, and factor VII 20%. Factor V and VII normalized with age. Parents were first-degree relatives of Algerian origin, both had respectively factor X 46% and 59%, and the father also had heterozygous factor VII deficiency (55%). Our case subject did not identify the genetic mutation (NGS and MLPA).
At the age of 4, she presented twice with hemarthrosis of the left knee, motivating the introduction of prophylaxis with human prothrombin complex (HPC) (20IU/kg once a week). The recuperation rate was 1.9%. Later, her first menstrual period leads to anemia, requiring tranexamic acid and iron supplementation.
At 16, we suggested switching to COAGADEX prophylaxis (plasma-derived blood coagulation factor X concentrate) 25 IU/kg once a week. We performed a pharmacokinetics assay; the peak 15 minutes later was 65% of factor X, maintained at 63% at T1 hour, and residual level one week later was 2%. The recuperation rate was 2.5 %.
For 18 months, this young girl has been pleased with this product. Injection time was faster than with HPC (1 minute 30 sec versus 20 minutes), and she did not have any recurrence of anemia.

Conclusion(s): COAGADEX, pure human coagulation factor X, could be an exciting alternative for prophylaxis in factor X deficiency.