Articles & Papers
One of the main goals of Glanzmann’s Research Foundation is to increase awareness of Glanzmann’s Thrombasthenia. A crucial way we do this is by making scientific research available to GT patients and their healthcare providers. The Foundation continues to share new research with our community as it becomes available.
Disease Burden in Patients with Glanzmann Thrombasthenia: Perspectives from the Glanzmann Thrombasthenia Patient/Caregiver Questionnaire
Blood (2019) 134 (Supplement_1): 3456.
Glanzmann thrombasthenia (GT) is a rare bleeding disorder (~1:1,000,000) caused by impaired function of platelet glycoprotein IIb/IIIa responsible for aggregation. This novel survey was designed to identify the burden of GT through better understanding of the management of the disorder and its psychosocial impact on patients and caregivers.
Screening and Management of Bleeding Disorders in Adolescents With Heavy Menstrual Bleeding
ACOG Committee on Adolescent Health Care – Committee Opinion | Number 785 | VOL. 134, NO. 3, SEPTEMBER 2019
ABSTRACT: Heavy menstrual bleeding is defined as excessive menstrual blood loss that interferes with a woman’s physical, social, emotional, or material quality of life. If obstetrician–gynecologists suspect that a patient has a bleeding disorder, they should work in coordination with a hematologist for laboratory evaluation and medical management. Evaluation of adolescent girls who present with heavy menstrual bleeding should include assessment for anemia from blood loss, including serum ferritin, the presence of an endocrine disorder leading to anovulation, and evaluation for the presence of a bleeding disorder. Physical examination of the patient who presents with acute heavy menstrual bleeding should include assessment of hemodynamic stability, including orthostatic blood pressure and pulse measurements. The first-line approach to acute bleeding in the adolescent is medical management; surgery should be reserved for those who do not respond to medical therapy. Use of antifibrinolytics such as tranexamic acid or aminocaproic acid in oral and intravenous form may be used to stop bleeding. Nonmedical procedures should be considered when there is a lack of response to medical therapy, if the patient is clinically unstable despite initial measures, or when severe heavy bleeding warrants further investigation, such as an examination under anesthesia. After correction of acute heavy menstrual bleeding, maintenance hormonal therapy can include combined hormonal contraceptives, oral and injectable progestins, and levonorgestrel-releasing intrauterine devices. Obstetrician–gynecologists can provide important guidance to premenarchal and postmenarchal girls and their families about issues related to menses and should counsel all adolescent patients with a bleeding disorder about safe medication use and future surgical considerations.
Glanzmann Thrombasthenia: Genetic Basis And Clinical Correlates
Haematologica April 2020 105: 888-894; Doi:10.3324/haematol.2018.214239
ABSTRACT: Glanzmann thrombasthenia (GT) is an autosomal recessive disorder of platelet aggregation caused by quantitative or qualitative defects in integrins αIIb and β3. These integrins are encoded by the ITGA2B and ITGB3 genes and form platelet glycoprotein (GP)IIb/IIIa, which acts as the principal platelet receptor for fibrinogen. Although there is variability in the clinical phenotype, most patients present with severe mucocutaneous bleeding at an early age. A classic pattern of abnormal platelet aggregation, platelet glycoprotein expression and molecular studies confirm the diagnosis. Management of bleeding is based on a combination of hemostatic agents including recombinant activated factor VII with or without platelet transfusions and antifibrinolytic agents. Refractory bleeding and platelet alloimmunization are common complications. In addition, pregnant patients pose unique management challenges. This review highlights clinical and molecular aspects in the approach to patients with GT, with particular emphasis on the significance of multidisciplinary care.