How I treat quantitative fibrinogen disorders

2.

Acharya

SS

,

Dimichele

DM

.

Rare inherited disorders of fibrinogen

.

Haemophilia

.

2008

;

14

(

6

):

1151

-

1158

.

3.

Casini

A

,

Undas

A

,

Palla

R

,

Thachil

J

,

de Moerloose

P

;

Subcommittee on Factor XIII and Fibrinogen

.

Diagnosis and classification of congenital fibrinogen disorders: communication from the SSC of the ISTH

.

J Thromb Haemost

.

2018

;

16

(

9

):

1887

-

1890

.

4.

Mackie

I

,

Casini

A

,

Pieters

M

,

Pruthi

R

,

Reilly-Stitt

C

,

Suzuki

A

.

International council for standardisation in haematology recommendations on fibrinogen assays, thrombin clotting time and related tests in the investigation of bleeding disorders

.

Int J Lab Hematol

.

2024

;

46

(

1

):

20

-

32

.

5.

Casini

A

,

de Moerloose

P

.

How I treat dysfibrinogenemia

.

Blood

.

2021

;

138

(

21

):

2021

-

2030

.

6.

Callea

F

,

Giovannoni

I

,

Sari

S

, et al.

Fibrinogen gamma chain mutations provoke fibrinogen and apolipoprotein B plasma deficiency and liver storage

.

Int J Mol Sci

.

2017

;

18

(

12

):

2717

.

7.

Casini

A

,

Neerman-Arbez

M

,

de Moerloose

P

.

Heterogeneity of congenital afibrinogenemia, from epidemiology to clinical consequences and management

.

Blood Rev

.

2021

;

48

:

100793

.

8.

Ivaskevicius

V

,

Jusciute

E

,

Steffens

M

, et al.

gammaAla82Gly represents a common fibrinogen gamma-chain variant in Caucasians

.

Blood Coagul Fibrinolysis

.

2005

;

16

(

3

):

205

-

208

.

9.

Paraboschi

EM

,

Duga

S

,

Asselta

R

.

Fibrinogen as a pleiotropic protein causing human diseases: the mutational burden of Aα, Bβ, and γchains

.

Int J Mol Sci

.

2017

;

18

(

12

):

2711

.

10.

Miller

CH

,

Soucie

JM

,

Byams

VR

, et al.

Occurrence rates of inherited bleeding disorders other than haemophilia and von Willebrand disease among people receiving care in specialized treatment centres in the United States

.

Haemophilia

.

2022

;

28

(

3

):

e75

-

e78

.

11.

Neerman-Arbez

M

.

The molecular basis of inherited afibrinogenaemia

.

Thromb Haemost

.

2001

;

86

(

1

):

154

-

163

.

12.

Asselta

R

,

Duga

S

,

Tenchini

ML

.

The molecular basis of quantitative fibrinogen disorders

.

J Thromb Haemost

.

2006

;

4

(

10

):

2115

-

2129

.

13.

Richard

M

,

Celeny

D

,

Neerman-Arbez

M

.

Mutations accounting for congenital fibrinogen disorders: an update

.

Semin Thromb Hemost

.

2022

;

48

(

8

):

889

-

903

.

14.

Mohsenian

S

,

Seidizadeh

O

,

Palla

R

, et al.

Diagnostic utility of bleeding assessment tools in congenital fibrinogen deficiencies

.

Haemophilia

.

2023

;

29

(

3

):

827

-

835

.

15.

Peyvandi

F

,

Palla

R

,

Menegatti

M

, et al.

Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders

.

J Thromb Haemost

.

2012

;

10

(

4

):

615

-

621

.

16.

Mohsenian

S

,

Palla

R

,

Menegatti

M

, et al.

Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the prospective rare bleeding disorders database

.

Blood Adv

.

2024

;

8

(

6

):

1392

-

1404

.

17.

Casini

A

,

von Mackensen

S

,

Santoro

C

, et al.

Clinical phenotype, fibrinogen supplementation, and health-related quality of life in patients with afibrinogenemia

.

Blood

.

2021

;

137

(

22

):

3127

-

3136

.

18.

Abdelwahab

M

,

de Moerloose

P

,

Casini

A

.

High incidence of intracranial haemorrhage in Egyptian children with congenital afibrinogenaemia

.

Haemophilia

.

2023

;

29

(

2

):

572

-

577

.

19.

Shapiro

A

.

The use of prophylaxis in the treatment of rare bleeding disorders

.

Thromb Res

.

2020

;

196

:

590

-

602

.

20.

Stanford

S

,

Roy

A

,

Cecil

T

, et al.

Differences in coagulation-relevant parameters: comparing cryoprecipitate and a human fibrinogen concentrate

.

PLoS One

.

2023

;

18

(

8

):

e0290571

.

21.

Hsieh

E

,

Conneely

S

,

Teruya

J

,

Nicholas

S

,

Miller

J

,

Lee-Kim

Y

.

Blood, sweat, and fears: a novel mutation associated with anaphylaxis and nonresponse in a patient with afibrinogenemia

.

J Pediatr Hematol Oncol

.

2021

;

43

(

2

):

e260

-

e263

.

22.

Negrier

C

,

Rothschild

C

,

Borg

JY

, et al.

Post-authorization safety study of Clottafact®, a triply secured fibrinogen concentrate in congenital afibrinogenemia. A prospective observational study

.

Vox Sang

.

2016

;

111

(

4

):

383

-

390

.

23.

Solomon

C

,

Groner

A

,

Ye

J

,

Pendrak

I

.

Safety of fibrinogen concentrate: analysis of more than 27 years of pharmacovigilance data

.

Thromb Haemost

.

2015

;

113

(

4

):

759

-

771

.

24.

Bevan

DH

.

Cryoprecipitate: no longer the best therapeutic choice in congenital fibrinogen disorders?

.

Thromb Res

.

2009

;

124

(

suppl 2

):

S12

-

S16

.

25.

De Vries

A

,

Rosenberg

T

,

Kochwa

S

,

Boss

JH

.

Precipitating antifibrinogen antibody appearing after fibrinogen infusions in a patient with congenital afibrinogenemia

.

Am J Med

.

1961

;

30

:

486

-

494

.

26.

Lissitchkov

T

,

Madan

B

,

Djambas Khayat

C

, et al.

Efficacy and safety of a new human fibrinogen concentrate in patients with congenital fibrinogen deficiency: an interim analysis of a Phase III trial

.

Transfusion

.

2018

;

58

(

2

):

413

-

422

.

27.

Djambas Khayat

C

,

El Khorassani

M

,

Aytac

S

, et al.

Pharmacology, efficacy and safety of a triple-secured fibrinogen concentrate in children less than or equal to 12 years with afibrinogenaemia

.

Thromb Haemost

.

2020

;

120

(

6

):

957

-

967

.

28.

Djambas Khayat

C

,

El Khorassani

M

,

Lambert

T

, et al.

Clinical pharmacology, efficacy and safety study of a triple-secured fibrinogen concentrate in adults and adolescent patients with congenital fibrinogen deficiency

.

J Thromb Haemost

.

2019

;

17

(

4

):

635

-

644

.

29.

Djambas Khayat

C

,

Lohade

S

,

D'Souza

F

, et al.

Efficacy and safety of fibrinogen concentrate for on-demand treatment of bleeding and surgical prophylaxis in paediatric patients with congenital fibrinogen deficiency

.

Haemophilia

.

2021

;

27

(

2

):

283

-

292

.

30.

Lissitchkov

T

,

Madan

B

,

Djambas Khayat

C

, et al.

Fibrinogen concentrate for treatment of bleeding and surgical prophylaxis in congenital fibrinogen deficiency patients

.

J Thromb Haemost

.

2020

;

18

(

4

):

815

-

824

.

31.

Ross

C

,

Rangarajan

S

,

Karimi

M

, et al.

Pharmacokinetics, clot strength and safety of a new fibrinogen concentrate: randomized comparison with active control in congenital fibrinogen deficiency

.

J Thromb Haemost

.

2018

;

16

(

2

):

253

-

261

.

32.

Bolton-Maggs

PH

,

Perry

DJ

,

Chalmers

EA

, et al.

The rare coagulation disorders--review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation

.

Haemophilia

.

2004

;

10

(

5

):

593

-

628

.

33.

Trossaert

M

,

Chamouard

V

,

Biron-Andreani

C

, et al.

Management of rare inherited bleeding disorders: proposals of the French Reference Centre on Haemophilia and Rare Coagulation Disorders

.

Eur J Haematol

.

2023

;

110

(

6

):

584

-

601

.

34.

Mumford

AD

,

Ackroyd

S

,

Alikhan

R

, et al.

Guideline for the diagnosis and management of the rare coagulation disorders: a United Kingdom Haemophilia Centre Doctors' Organization guideline on behalf of the British Committee for Standards in Haematology

.

Br J Haematol

.

2014

;

167

(

3

):

304

-

326

.

35.

Casini

A

,

de Moerloose

P

;

Congenital Fibrinogen Disorders Group

.

Management of congenital quantitative fibrinogen disorders: a Delphi consensus

.

Haemophilia

.

2016

;

22

(

6

):

898

-

905

.

36.

Young

GA

,

Carmona

R

,

Cano Garcia

V

.

Thromboelastography and thrombin generation assay in inherited afibrinogenemia

.

Haemophilia

.

2018

;

24

(

6

):

e410

-

e416

.

37.

Bellon

A

,

Fuseau

E

,

Roumanie

O

, et al.

Population pharmacokinetics of a triple-secured fibrinogen concentrate administered to afibrinogenaemic patients: observed age- and body weight-related differences and consequences for dose adjustment in children

.

Br J Clin Pharmacol

.

2020

;

86

(

2

):

329

-

337

.

38.

Casini

A

,

de Moerloose

P

.

Fibrinogen concentrates in hereditary fibrinogen disorders: past, present and future

.

Haemophilia

.

2020

;

26

(

1

):

25

-

32

.

39.

Polack

B

,

Pouzol

P

,

de Mazancourt

P

,

Gay

V

,

Hanss

M

.

Is primary prophylaxis required in afibrinogenemia?

.

Transfusion

.

2010

;

50

(

6

):

1401

-

1403

.

40.

Peyvandi

F

,

Haertel

S

,

Knaub

S

,

Mannucci

PM

.

Incidence of bleeding symptoms in 100 patients with inherited afibrinogenemia or hypofibrinogenemia

.

J Thromb Haemost

.

2006

;

4

(

7

):

1634

-

1637

.

41.

Lasky

J

,

Teitel

J

,

Wang

M

,

Dalton

D

,

Schmidt

DS

,

Brainsky

A

.

Fibrinogen concentrate for bleeding in patients with congenital fibrinogen deficiency: observational study of efficacy and safety for prophylaxis and treatment

.

Res Pract Thromb Haemost

.

2020

;

4

(

8

):

1313

-

1323

.

42.

Matsumoto

T

,

Wada

H

,

Tamaru

S

, et al.

Central venous catheter-related thrombosis after replacement therapy for intracranial bleeding in a patient with afibrinogenaemia

.

Haemophilia

.

2008

;

14

(

1

):

153

-

156

.

43.

Korte

W

,

Poon

MC

,

Iorio

A

,

Makris

M

.

Thrombosis in inherited fibrinogen disorders

.

Transfus Med Hemother

.

2017

;

44

(

2

):

70

-

76

.

44.

Bornikova

L

,

Peyvandi

F

,

Allen

G

,

Bernstein

J

,

Manco-Johnson

MJ

.

Fibrinogen replacement therapy for congenital fibrinogen deficiency

.

J Thromb Haemost

.

2011

;

9

(

9

):

1687

-

1704

.

45.

Hugon-Rodin

J

,

Carriere

C

,

Claeyssens

S

, et al.

Obstetrical complications in hereditary fibrinogen disorders: the Fibrinogest study

.

J Thromb Haemost

.

2023

;

21

(

8

):

2126

-

2136

.

46.

Sartori

MT

,

Milan

M

,

de Bon

E

,

Fadin

M

,

Pesavento

R

,

Zanon

E

.

Thrombosis of abdominal aorta in congenital afibrinogenemia: case report and review of literature

.

Haemophilia

.

2015

;

21

(

1

):

88

-

94

.

47.

Dupuy

E

,

Soria

C

,

Molho

P

, et al.

Embolized ischemic lesions of toes in an afibrinogenemic patient: possible relevance to in vivo circulating thrombin

.

Thromb Res

.

2001

;

102

(

3

):

211

-

219

.

48.

Santoro

C

,

Massaro

F

,

Venosi

S

, et al.

Severe thrombotic complications in congenital afibrinogenemia: a pathophysiological and management dilemma

.

Semin Thromb Hemost

.

2016

;

42

(

5

):

577

-

582

.

49.

Fish

RJ

,

Freire

C

,

Di Sanza

C

,

Neerman-Arbez

M

.

Venous thrombosis and thrombocyte activity in Zebrafish models of quantitative and qualitative fibrinogen disorders

.

Int J Mol Sci

.

2021

;

22

(

2

):

655

.

50.

Mosesson

MW

.

Update on antithrombin I (fibrin)

.

Thromb Haemost

.

2007

;

98

(

1

):

105

-

108

.

51.

Korte

W

,

Feldges

A

.

Increased prothrombin activation in a patient with congenital afibrinogenemia is reversible by fibrinogen substitution

.

Clin Investig

.

1994

;

72

(

5

):

396

-

398

.

52.

Simpson

ML

,

Goldenberg

NA

,

Jacobson

LJ

,

Bombardier

CG

,

Hathaway

WE

,

Manco-Johnson

MJ

.

Simultaneous thrombin and plasmin generation capacities in normal and abnormal states of coagulation and fibrinolysis in children and adults

.

Thromb Res

.

2011

;

127

(

4

):

317

-

323

.

53.

Rahe-Meyer

N

,

Neumann

G

,

Schmidt

DS

,

Downey

LA

.

Long-term safety analysis of a fibrinogen concentrate (RiaSTAP®/Haemocomplettan® P)

.

Clin Appl Thromb Hemost

.

2024

;

30

:

10760296241254106

.

54.

Khayat

C

,

Marchi

R

,

Durual

S

,

Lecompte

T

,

Neerman-Arbez

M

,

Casini

A

.

Impact of fibrinogen infusion on thrombin generation and fibrin clot structure in patients with inherited afibrinogenemia

.

Thromb Haemost

.

2022

;

122

(

9

):

1461

-

1468

.

55.

Nagler

M

,

Kremer Hovinga

JA

,

Alberio

L

, et al.

Thromboembolism in patients with congenital afibrinogenaemia. Long-term observational data and systematic review

.

Thromb Haemost

.

2016

;

116

(

4

):

722

-

732

.

56.

Margaglione

M

,

Vecchione

G

,

Cappucci

F

, et al.

Venous thrombosis in afibrinogenemia: a successful use of rivaroxaban

.

Haemophilia

.

2015

;

21

(

5

):

e431

-

e433

.

57.

Nathoo

N

,

Rydz

N

,

Poon

MC

,

Metz

LM

.

Ischemic strokes in a man with congenital afibrinogenemia

.

Can J Neurol Sci

.

2018

;

45

(

5

):

590

-

592

.

58.

Kim

SJ

,

Lee

EY

,

Park

R

,

Kim

J

,

Song

J

.

Comparison of prothrombin time derived from CoaguChek XS and laboratory test according to fibrinogen level

.

J Clin Lab Anal

.

2015

;

29

(

1

):

28

-

31

.

59.

Schutgens

REG

,

Jimenez-Yuste

V

,

Escobar

M

, et al.

Antithrombotic treatment in patients with hemophilia: an EHA-ISTH-EAHAD-ESO clinical practice guidance

.

Hemasphere

.

2023

;

7

(

6

):

e900

.

60.

Ortel

TL

,

Neumann

I

,

Ageno

W

, et al.

American Society of Hematology 2020 guidelines for management of venous thromboembolism: treatment of deep vein thrombosis and pulmonary embolism

.

Blood Adv

.

2020

;

4

(

19

):

4693

-

4738

.

61.

Hadjali-Saichi

S

,

de Mazancourt

P

,

Tapon-Bretaudiere

J

, et al.

Clinical, biological, and genetic features in an afibrinogenemia patient series in Algeria

.

Haemophilia

.

2022

;

28

(

5

):

822

-

831

.

62.

Maas

D

,

Saes

JL

,

Blijlevens

NMA

, et al.

Treatment of patients with rare bleeding disorders in the Netherlands: real-life data from the RBiN study

.

J Thromb Haemost

.

2022

;

20

(

4

):

833

-

844

.

63.

Aygoren-Pursun

E

,

Martinez Saguer

I

,

Rusicke

E

, et al.

Retrochorionic hematoma in congenital afibrinogenemia: resolution with fibrinogen concentrate infusions

.

Am J Hematol

.

2007

;

82

(

4

):

317

-

320

.

64.

Simurda

T

,

Casini

A

,

Stasko

J

, et al.

Perioperative management of a severe congenital hypofibrinogenemia with thrombotic phenotype

.

Thromb Res

.

2020

;

188

:

1

-

4

.

65.

Spyropoulos

AC

,

Brohi

K

,

Caprini

J

, et al.

Scientific and Standardization Committee Communication: guidance document on the periprocedural management of patients on chronic oral anticoagulant therapy: recommendations for standardized reporting of procedural/surgical bleed risk and patient-specific thromboembolic risk

.

J Thromb Haemost

.

2019

;

17

(

11

):

1966

-

1972

.

66.

Snir

A

,

Brenner

B

,

Paz

B

,

Ohel

G

,

Lanir

N

.

The role of fibrin matrices and tissue factor in early-term trophoblast proliferation and spreading

.

Thromb Res

.

2013

;

132

(

4

):

477

-

483

.

67.

Iwaki

T

,

Castellino

FJ

.

Maternal fibrinogen is necessary for embryonic development

.

Curr Drug Targets

.

2005

;

6

(

5

):

535

-

539

.

68.

Saes

JL

,

Laros-van Gorkom

BAP

,

Coppens

M

,

Schols

SEM

.

Pregnancy outcome in afibrinogenemia: are we giving enough fibrinogen concentrate? A case series

.

Res Pract Thromb Haemost

.

2020

;

4

(

2

):

343

-

346

.

69.

Karimi

M

,

Bordbar

M

,

Aali

M

,

Bazrafshan

A

,

Tavoosi

H

,

Gerdabi

J

.

Successful delivery in an patient with afibrinogenemia after three abortions: a case report and review of the literature

.

Haemophilia

.

2018

;

24

(

2

):

e63

-

e66

.

70.

Oda

T

,

Itoh

H

,

Kawai

K

, et al.

Three successful deliveries involving a woman with congenital afibrinogenaemia - conventional fibrinogen concentrate infusion vs. 'as required' fibrinogen concentrate infusion based on changes in fibrinogen clearance

.

Haemophilia

.

2016

;

22

(

5

):

e478

-

e481

.

71.

Mensah

PK

,

Oppenheimer

C

,

Watson

C

,

Pavord

S

.

Congenital afibrinogenaemia in pregnancy

.

Haemophilia

.

2011

;

17

(

1

):

167

-

168

.

72.

Matsushita

I

,

Uchida

S

,

Yamaguchi

A

, et al.

Interstitial pregnancy in a woman with congenital afibrinogenemia

.

J Obstet Gynaecol Res

.

2008

;

34

(

5

):

914

-

918

.

73.

Roque

H

,

Stephenson

C

,

Lee

MJ

, et al.

Pregnancy-related thrombosis in a woman with congenital afibrinogenemia: a report of two successful pregnancies

.

Am J Hematol

.

2004

;

76

(

3

):

267

-

270

.

74.

Lebreton

A

,

Casini

A

,

Alhayek

R

,

Kouteich

KL

,

Neerman-Arbez

M

,

de Moerloose

P

.

Successful pregnancy under fibrinogen substitution in a woman with congenital afibrinogenaemia complicated by a postpartum venous thrombosis

.

Haemophilia

.

2015

;

21

(

1

):

e108

-

e110

.

75.

Casini

A

,

Abdul Kadir

R

,

Abdelwahab

M

, et al.

Management of pregnancy and delivery in congenital fibrinogen disorders: communication from the ISTH SSC Subcommittee on factor XIII and fibrinogen

.

J Thromb Haemost

.

2024

;

22

(

5

):

1516

-

1521

.

76.

Malinowski

AK

,

Abdul-Kadir

R

.

Planning pregnancy and birth in women with inherited bleeding disorders

.

Semin Thromb Hemost

.

2023

;

49

(

4

):

371

-

381

.

77.

Castaman

G

,

Ruggeri

M

,

Rodeghiero

F

.

Congenital afibrinogenemia: successful prevention of recurrent hemoperitoneum during ovulation by oral contraceptive

.

Am J Hematol

.

1995

;

49

(

4

):

363

-

364

.