Glanzmann’s thrombasthenia (GT) is an autosomal recessive disorder of platelets caused by a deficiency in the glycoprotein IIb-IIIa. Bleeding from the skin, mucous membranes, and ecchymosis are symptoms manifested starting in early childhood. There may also be major bleeding conditions as a result of surgical procedures or trauma. The treatment is based on platelet transfusions, antifibrinolytic agents, and recombinant activated factor VII (rFVIIa).
Articles & Papers
One of the main goals of Glanzmann’s Research Foundation is to increase awareness of Glanzmann’s Thrombasthenia. We do this 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.
Eptacog alfa activated: a recombinant product to treat rare congenital bleeding disorders
2015 June 29
Glanzmann’s thrombasthenia (GT) and congenital factor VII deficiency (FVII CD) are rare autosomal recessive bleeding disorders: GT is the most frequent congenital platelet function disorder, and FVII CD is the most common factor-deficiency disease after haemophilia. The frequency of these disorders in the general population ranges from 1:500,000 to 1:2,000,000. Because GT and FVII CD are both rare, registries are the only approach possible to allow the collection and analysis of sufficient observational data. Recombinant activated factor VII (rFVIIa, eptacog alfa activated) is indicated for the treatment of acute bleeding episodes and for surgery coverage in patients with GT who are refractory to platelets and have antiplatelet or anti-human leukocyte antigen (HLA) antibodies, and for the prevention and treatment of bleeding in patients with FVII CD. This article summarises published data on the mechanism of action and use of rFVIIa in these disorders from two international, prospective, observational registries: the Glanzmann’s Thrombasthenia Registry (GTR) for GT; and the Seven Treatment Evaluation Registry (STER) for FVII CD. Haemostatic effectiveness rates with rFVIIa were high across all patients with GT and those with FVII CD, and treatment with rFVIIa in the GTR and STER registries was well tolerated. The GTR and the STER are the largest collections of data in GT and FVII CD, respectively, and have expanded our knowledge of the management of these two rare bleeding disorders.
Eptacog Alfa (Activated) Is Physically and Chemically Stable over 24 Hours when Administered as Bolus Injections in an Automated Infusion Pump
Published online 2019 Feb 6
Eptacog alfa (activated) is a recombinant activated factor VII (rFVIIa) used for the treatment and prevention of bleeding episodes in patients with congenital hemophilia with inhibitors. Frequent dosing requirements make the use of an automated bolus infusion pump a promising alternative to manual administration.
Glanzmann’s Thrombasthenia: How Listening to the Patient Is Sometimes the Simple Key to Good Medicine!
Case Report | Open Access Volume 2020 | Article ID 4862987
Glanzmann’s thrombasthenia is a rare clotting disorder caused by impaired platelet function. Lack of awareness of the appropriate management of rare medical conditions may lead to patient dissatisfaction and potentially poor treatment outcome. Case Report. A 78-year-old male with a history of Glanzmann’s thrombasthenia was admitted to the trauma service following a fall in which he sustained a facial laceration as well as maxillary sinus and nasal fractures. He received DDAVP 20 mcg and tranexamic acid upon presentation to the emergency department (ED). In the ED, the patient requested administration of platelet transfusion but was refused due to a normal platelet count. During the course of his hospital stay, he complained of epistaxis and was noted to have a downtrending hemoglobin from 11.0 g/dl to 9.0 g/dl. The patient and his family were not comfortable when the discharge plan was finalized and demanded platelet transfusion (due to history of needing platelets in association with injuries or procedures in the past) was refused by the primary team as they continued to state that his platelet count is normal. On hospital day 3, hematology was consulted as the patient and his family were extremely angry and hematology recommended platelet transfusion. Further clinical information was not available as the patient was transferred to another facility per family request as they wanted to be at a center which had the patient’s primary hematologist. Discussion. A delay in specialist consultation resulted in patient dissatisfaction and extended the length of stay. Patients with rare medical conditions and potential for major complications should be managed aggressively with appropriate specialist consultation to promote patient satisfaction and improve the overall quality of care. This case shows that as physicians it our duty to listen to our patient’s concerns and involve them in the medical decision-making to provide optimal patient-centered care.
Glanzmann’s Thrombasthenia: You Are Not Alone
Whether you are newly diagnosed with Glanzmann’s Thrombasthenia (GT) or have been diagnosed for some time, it is common to go through many ups and downs. We want to share information that you should know and some resources about this condition that can help you on your path to improved health and quality of life. When you are first given a new diagnosis, one as rare as GT, it is understandable to have many emotions or feel overwhelmed. The good thing is that you’re not alone. There are other people who have the same condition and lead full lives. They have had their lives enriched by becoming closer to other people who are traveling on a similar path. With the care of an experienced team, you will find support from your health care providers as well as from the vibrant and caring bleeding disorders community. You can be involved in this community and build meaningful relationships with your new extended family.
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
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’s Thrombasthenia: Genetic Basis And Clinical Correlates
Haematologica April 2020 105: 888-894; Doi:10.3324/haematol.2018.214239
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.
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