PB0702 - Usefulness of rotational plasma thromboelastometry in severe inherited FXIII deficiency

Monday, July 11, 2022

6:30 PM – 7:30 PM

Location: Exhibition

Presentation Format: In-Person

Presenting Author(s)

Imen Ben Salah, MD

Hematologist
Service Hématologie Biologique, Hôpital Beaujon (APHP)
Clichy, Ile-de-France, France

Co-Author(s)

AL

Amélie Launois, Dr

Hematologist
Laboratoire de Biologie Médicale, Hôpital André Mignot
Le Chesnay, Ile-de-France, France
Claire Flaujac

Hematologist
laboratoire de biologie médicale- secteur hémostase - André Mignot hospital, Versailles
Le Chesnay, Ile-de-France, France
CL

Cécile Lavenu-Bombled

Hematologist
Laboratoire Hématologie, Hôpital Bicêtre (APHP) - HITh, UMR_S1176, INSERM, Université Paris-Saclay
Le Kremlin-Bicêtre, Ile-de-France, 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
IM

Isabelle Martin-Toutain

Hematologist
Laboratoire de Biologie Médicale, Hôpital André Mignot
Le Chesnay, Ile-de-France, France
Marie-Charlotte BOURRIENNE, PharmD

Assistant
Laboratoire d'Hématologie, AP-HP, Hôpital Bichat Claude-Bernard, Paris, France.
PARIS, Ile-de-France, France
Ed

Emmanuelle de Raucourt

Hematologist
Centre de ressources et compétences des Maladies Hémorragiques Constitutionnelles rares, centre hospitalier de Versailles (André Mignot)
Le chesnay, Ile-de-France, France

Background: FXIII deficiency is one of the rarest bleeding disorders, characterized, in severe cases, by neonatal umbilical hemorrhage and spontaneous intracranial hemorrhage. Severe FXIII deficiency ( < 5 UI/dL) is usually diagnosed in early childhood and requires lifelong prophylaxis with FXIII concentrate. Diagnosis and monitoring of FXIII deficiency remains challenging as standard coagulation tests are insensitive, and specific assays remain difficult to perform. Plasma thromboelastometry (ROTEM) has been reported to be affected by FXIII deficiency.

Aims: Herein, we report the case of a children referred to our center for bleeding tendency.

Methods: Plasma ROTEM assay was used at diagnosis and after to monitor substitution with FXIII concentrates.

Results: An eight- year- old boy was referred for delayed post- traumatic bleedings and spontaneous ecchymosis observed for several months. There was no personal or familial bleeding history and no consanguinity. All standard coagulation assays, von Willebrand factor levels, both platelet count and function were normal. EXTEM Parameters with ROTEM used on plasma showed abnormalities, particularly decreased MCF (Figure A) despite normal fibrinogen level. FXIII specific assay revealed a severe FXIII deficiency (FXIII < 1 UI/ dL). As no bleeding tendency had been reported in early childhood an acquired FXIII deficiency was suspected. After FXIII concentrate infusion, bleeding tendency improved, ROTEM parameters normalized (Figure B) and remained within normal range at Day 7, 14 and 28 ruling out an inhibitor. Specific assay confirmed the absence of FXIII inhibitor. ROTEM was normal in both parents who exhibited FXIII level at 55 IU/dl and 66 IU/dl, respectively (figure C-D). Constitutive FXIII deficiency was confirmed, with composite heterozygosity for the F13A1 variants c.1984C>T in exon 14 (p.Arg662*) and c.1504G>A in exon 12 (p.G502R), inherited by his father and mother, respectively.

Conclusion(s): ROTEM/thromboelastometry used on plasma is sensitive to severe FXIII deficiency and may help to monitor replacement therapy with FXIII concentrate.