Case report, case study
PREGNANT WOMAN WITH GLANZMANN THROMBASTHENIA – A CASE REPORT
ENA RANKOVIĆ
; Division of Hematology, Department of Internal Medicine, University Hospital Center Zagreb, Zagreb, Croatia
*
GORDANA TOMAC
; Division of Transfusion Medicine and Transplantation Biology, University Hospital Center Zagreb, Zagreb, Croatia
MIRELA RAOS
; Division of Transfusion Medicine and Transplantation Biology, University Hospital Center Zagreb, Zagreb, Croatia; University of Zagreb, School of Medicine, Zagreb, Croatia
GORDAN ZLOPAŠA
; University of Zagreb, School of Medicine, Zagreb, Croatia; Clinic for Women’s Diseases, Department of Obstetrics and Gynecology, University Hospital Center Zagreb, Zagreb, Croatia
DRAŽEN PULANIĆ
; Division of Hematology, Department of Internal Medicine, University Hospital Center Zagreb, Zagreb, Croatia; University of Zagreb, School of Medicine, Zagreb, Croatia
* Corresponding author.
Abstract
INTRODUCTION: Glanzmann thrombasthenia is a rare hereditary platelet disorder characterized by a genetically determined disorder in the glycoprotein IIb/IIIa complex with a consequent disorder of platelet aggregation. To confirm the diagnosis, the absence of platelet aggregation to all agonists except ristocetin and the determination of the amount of GIIb/IIIa on the platelet
membrane are important. The phenotype is variable, and is most often manifested by bleeding of the skin and mucous membranes.
Treatment of bleeding episodes comprises the use of antifibrinolytics, platelet transfusions, and recombinant FVIIa.
OBJECTIVE: To present a rare case of a pregnant woman with Glanzmann thrombasthenia and proven antiplatelet antibodies.
CASE REPORT: At the age of 13, the patient was diagnosed with Glanzmann thrombasthenia based on the findings of platelet
aggregation as part of the work-up for gingival bleeding, after which she had no significant bleeding and did not see a hematologist.
At the age of 28, in the 37th week of a previously normal pregnancy, the patient was transferred from an external institution to the Department of Hematology of the University Hospital Center (UHC) Zagreb for observation and treatment of epistaxis. Nasal tamponade was performed in the external institution and she received a platelet concentrate transfusion. In UHC Zagreb, the work-up revealed normal values and morphology of platelets and the absence of platelet aggregation with all agonists except ristocetin. Extended tests of platelet function demonstrated immunophenotypically reduced expression of GPIIb/IIIa (but > 20 %) on the surface of the platelets, which indicated Glanzmann thrombasthenia type III. Subsequently, antiplatelet autoantibodies to the GPIIb/IIIa and Ia/IIa complex were demonstrated in the patient’s serum, along with all specific platelet antigens present by genotyping. This finding could also indicate pseudo-Glanzmann thrombasthenia. Considering the presence of autoantibodies and the risk of neonatal thrombocytopenia, the patient was treated with corticosteroids and intravenous immunoglobulins. During the hospitalization, she went into labor at 38+1 weeks of gestation, and proceeded to a vaginal birth, which went smoothly. Postpartum, she received prophylactic rFVIIa in a dose of 90 μg/kg intravenously every 3 hours, up to a total of 4 doses with uterotonic (oxytocin 5 international units) and tranexamic acid 3 x 1 g during 10 days, without the need to receive a platelet transfusion. Upon treatment, there were no signs of increased bleeding or neonatal thrombocytopenia. During follow-up negativization of antiplatelet antibodies occurred, while the aggregation disorder persisted.
CONCLUSION: Although there has been significant progress in the understanding of platelet function, hereditary platelet disorders are still largely unknown, and diagnostics do not necessarily lead to an unequivocal conclusion. A multidisciplinary approach as well as timely recognition and optimization of treatment are important, especially in pregnancy, due to additional risks for both mother and fetus.
Keywords
pregnancy; Glanzmann thrombasthenia; pseudo-Glanzmann thrombasthenia; anti-GPIIb/IIIa antibodies
Hrčak ID:
331227
URI
Publication date:
16.5.2025.
Visits: 731 *