Mutations in either of the genes encoding gpiib or gpiiia can result in gt. Abstract glanzmanns thrombasthenia gt is a low frequency hematologic disease with an autosomal recessive inheritance pattern. Adp gpiibiiia ristocetina gpib ac araquidonico metabolismo pgs control bernardsoulier trombopatia. Gt is a genetic autosomal recessive disease caused by the alteration of the genes itga2b and itgb3, located on the chromosome 17. It it can occur as petechiae, epistaxis and gastrointestinal and gingival bleeding. Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. By using these medicines we create a temporary gtlike situation. It is an extremely rare coagulopathy bleeding disorder due to a blood abnormality, in which the platelets contain defective or low levels of glycoprotein iibiiia gpiibiiia, which is a receptor for fibrinogen.
Glanzmann thrombasthenia gt is an autosomal recessive disorder of platelet aggregation caused by quantitative or qualitative defects in integrins. Recombinant factor viia is effective for bleeding and surgery in patients with glanzmann thrombasthenia. Renelevesque ouest bureau 1200 montreal, quebec h3g 1t7 canada telefono. Fredy glanzmann born 1963, swiss nordic combined skier. Glanzmanns thrombasthenia gt is a genetic platelet surface receptor disorder of gpiibiiia itg. A potential carrier for glanzmanns is pregnant so we can advise the obgyn provider on special procedures. The patients, during their life, show episodes of mucocutaneous bleeding, epistaxis, and gingival bleeding. Glanzmann s thrombasthenia is an abnormality of the platelets. Glanzmanns thrombasthenia is a paradigm for treating coronary artery disease patients with gpiibiiia antibody and inhibitors. Background glanzmann thrombasthenia gt is a rare inherited genetic platelet disorder characterized by a qualitative, or quantitative mutation in gpiibiiia receptor. Read more about symptoms, diagnosis, treatment, complications, causes and. The common symptoms were epistaxis, gingival bleeding, and.
Case a 19yearold arab descent female presented to emergency department with severe menorrhagia. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Glanzmann thrombasthenia in children from argentina. Glanzmanns disease is a longterm disorder with no cure. Glanzmann thrombasthenia gt is a hereditary blood clotting disorder, which is typified by abnormal bleeding. Hence, understanding this disease is of utmost importance to the practicing cardiologist.
Prolonged untreated or unsuccessfully treated hemorrhaging. Glanzmann thrombasthenia gt is a rare inherited blood clotting coagulation disorder characterized by the impaired function of specialized cells platelets that are essential for proper blood clotting. Platelet gp ilbills content, and clinical observations on 64 patients studied in paris, 1956 t o 1989 age. Glanzmann s thrombasthenia is a paradigm for treating coronary artery disease patients with gpiibiiia antibody and inhibitors. People with glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds epistaxis, and may bleed from the gums. There are many dangers of continual bleeding such as chronic anemia, neurological or psychiatric problems, and possibly death, if enough. This disease emerges from a genetic mutation that affects platelet aggregation. Hematologydental integrated management in glanzmann. A total of 48 patients representing 43 families were included.
Araquid adp 4 adp 2 asalike col spd i spd ii adp 4 adp 2. Symptoms of this disorder usually include abnormal bleeding, which may be severe. Glanzmann thrombasthenia gt is an autosomal recessive disease that is caused by lack of expression or qualitative defects in one of the two gp forming the integrin. Glanzmann thrombasthenia genetics home reference nih. Usually internal head bleeding does not occur with platelet disorders, but it is wise to watch for change in condition if this occurs.
Spontaneous mucocutaneous bleeding is common and can lead to fatal bleeding episodes. Glanzmann thrombasthenia nord national organization for. Two thirds had an onset of bleeding within the first 2 years of life. Jul 08, 2015 glanzmanns thrombasthenia gt is a genetic platelet surface receptor disorder of gpiibiiia itg. Glanzmanns thrombasthenia an overview sciencedirect topics. Glanzmann thrombasthenia is an autosomal recessive disorder caused by a quantitative or qualitative defect of the platelet gp complex iibiiia gpiibiiia, also known as the fibrinogen receptor or integrin. Your child hits his or her head hard on a hard surface.
For these reasons, it would be imprudent to give an estimation of worldwide prevalence. They may also develop red or purple spots on the skin caused by bleeding underneath the. Glanzmann s thrombasthenia gt is a genetic platelet surface receptor disorder of gpiibiiia itg. Case report of glanzmann thrombasthenia medical student. Sixtyseven percent were born out of consanguineous marriage. Glanzmanns thrombasthenia is an abnormality of the platelets.
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