PB0221 - Clinical heterogeneity of congenital dysfibrinogenemia within a two-generation family in Brazil

Sunday, June 25, 2023

18:30 – 19:30 ET

Room: Exhibition

Presenting Author(s)

Thaís D R Nóbrega

Hematologist
University of São Paulo Medical School
SAO PAULO, Sao Paulo, Brazil

Co-Author(s)

PV

Paula Villaça

Hematologist
University of São Paulo Medical School
SÃO PAULO, Sao Paulo, Brazil
EO

Erica Okazaki

Hematologist
Clinics Hospital of the University of São Paulo Medical School
São Paulo, Sao Paulo, Brazil
CR

Cynthia Rothschild, Master (she/her/hers)

Hematologist
ICESP - University of São Paulo Medical School
São Paulo, Sao Paulo, Brazil
BS

Bianca Stefanello

Hematologist
Clinics Hospital of the University of São Paulo Medical School
São Paulo, Sao Paulo, Brazil
TR

Tania R. F. da Rocha

Head of Hemostasis and Thrombosis Laboratory
Clinics Hospital of the University of São Paulo Medical School
São Paulo, Sao Paulo, Brazil
VR

Vanderson Rocha

Hematologist
Clinics Hospital of the University of São Paulo Medical School
São Paulo, Sao Paulo, Brazil
FO

Fernanda A. Orsi

Hematologist
University of São Paulo Medical School
São Paulo, Sao Paulo, Brazil

Background: Congenital dysfibrinogenemia (CD) is a rare disorder caused by mutations in one of the fibrinogen (FB) genes that lead to the synthesis of an abnormal, dysfunctional, FG. The disease is associated with a myriad of symptoms, such as bleedings, thrombosis or obstetric complications, including abortion and stillbirth. Reports describing the manifestations of this highly heterogeneous genetic disease in Latin America families are scarce. Therefore, the management of patients with CD is based on evidence from international reports, with distinct populations from that of Latin America.

Aims: To describe the demographic, clinical and laboratory characteristics of 13 members of the same family with CD in Brazil.

Methods: Descriptive analysis of patients and their relatives.

Results: Twenty-eight subjects from the same family were evaluated (Figure1), 13 had confirmed CD (low Clauss assay, normal FB antigen). Although 6 patients (46%) reported bleedings, the ISTH-Bleeding Assessment Tool (BAT) score was abnormal in only 2 patients (15%). Among the CD patients with altered BAT scores, mean TT results and Clauss assay results were similar to patients with normal BAT scores (mean TT 43,8 x 48s; CF 35 x 37 mg/dL, respectively). Two out of 5 women (40%) had abortions, and no one reported thrombosis. Interestingly, six family members without CD (40%) reported bleeding events, one (7%) had abnormal BAT score and 1 out 8 women (12.5%) had abortions.

Conclusion(s): In this family with CD, we observed that the clinical presentation was not enough to raise suspicion of CF because most family members were asymptomatic or had minor bleedings, regardless of the diagnosis of CD. Laboratory workup of all members was mandatory to distinguish patients with CD from those without the disease. Additionally, the degree of FB dysfunction was not associated with the severity of CD.