The molecular basis is linked to quantitative andor qualitative abnormalities of. One of the most recognized and clearly defined disorders of inherited abnormal hemostasis today is glanzmanns thrombasthenia gt, a disease. Glanzmann s thrombasthenia is an abnormality of the platelets. Perioperative management of a pediatric patient with glanzmanns. Fredy glanzmann born 1963, swiss nordic combined skier.
Araquid adp 4 adp 2 asalike col spd i spd ii adp 4 adp 2. Anyone with a bleeding disorder should avoid taking aspirin and other nonsteroidal antiinflammatory drugs nsaids such as ibuprofen and naproxen. Patients have an increased bleeding time and a normal platelet count with abnormal platelet function assays. Glanzmanns thrombasthenia is an abnormality of the platelets.
The children affected by the disease all came from a tiny village, called le valais, situated high in the swiss alps. Glanzmanns thrombasthenia gt is a genetic platelet surface receptor disorder of gpiibiiia itg. Glanzmann thrombasthenia is a lifelong condition, and there is no cure. 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. In this village there were frequent marriages between close relatives. Abstract glanzmanns thrombasthenia gt is a low frequency hematologic disease with an autosomal recessive inheritance pattern. Hematologydental integrated management in glanzmann. Gt is an autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by a lack of platelet aggregation.
Glanzmann thrombasthenia gt is an autosomal recessive disorder of platelet aggregation caused by quantitative or qualitative defects in integrins. You should take special steps to try to avoid bleeding if you have this condition. Glanzmann thrombasthenia gt is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. For these reasons, it would be imprudent to give an estimation of worldwide prevalence.
Glanzmann thrombasthenia orphanet journal of rare diseases. Apr 25, 2010 glanzmann s thrombasthenia is a rare congenital bleeding disorder. It it can occur as petechiae, epistaxis and gastrointestinal and gingival bleeding. Glanzmann thrombasthenia was discovered in berne, switzerland in 1918 by a pediatrician named glanzmann. Adp gpiibiiia ristocetina gpib ac araquidonico metabolismo pgs control bernardsoulier trombopatia. Renelevesque ouest bureau 1200 montreal, quebec h3g 1t7 canada telefono.
112 1518 1368 1152 101 1646 81 618 1146 961 978 1392 1217 1501 408 790 1313 1480 811 818 551 1512 625 624 302 101 1445 763 1333 361 542 631 1636 1018 1323 130 398 926 1450 1347 911 1334 466 380