What disorder is characterized by the deficiency of GPIIb/IIIa receptors? Additionally, I would like to know how the disorder is diagnosed via clinical laboratory methods. If possible, please include reference values of the relevant laboratory tests.
Disorder of the deficiency of GPIIb/IIIa receptors is called Glanzmann thrombasthenia. Characterized by abnormal aggragation response in adenosine triphosphate, collagen and epinephrine. It has a normal response in ristocetin. It is also characterized by abnormal clot retraction and prolonged bleeding time. Normal values for bleeding time is between 2-7 minutes and for clotting time is between 7-15 minutes using the Lee & White method
Hi Kieth! The platelet aggregation disorder described as deficiency of glycoprotein IIb/IIIa is called Glanzmann's Thrombasthenia. It is an autosomal recessive disorder characterized as having abnormal (prolonged) bleeding and clot retraction time test results. The platelet count of the patient is within normal limits however prolonged bleeding is present due to the inability of the platelets to clump together and form a plug whenever stimulated (Coller, 2018).
Deficiency of GPIIb/IIIa receptor is manifested by a platelet aggregation disorder called Glanzmann's Thrombasthenia. It is an autosomal recessive trait disorder that results in abnormal platelet aggregation response. Both platelet aggregation and fibrin formation is essential in maintaining normal hemostasis. Platelets are one of the first line of defense in preventing blood loss via recognition of broken vessels and leads to adhering and aggregating of platelets. The hallmark of this disease is severely reduced or nearly absent platelet aggregation response that leads to prolonged bleeding time and clot retraction test. (French, D.L., Seligsohn, U., 2000)
The deficiency of GPIIb/IIIa receptors results in the development of Glanzmann's thrombasthenia which affects the aggregation function of the platelet.
Mr. Amoguis, good day to you.
To answer your question, the platelet aggregation disorder caused by deficiency of GPIIb/IIIa receptors is an autosomal recessive bleeding syndrome known as Glanzmann Thrombastenia - which affects the megakaryocyte lineage. The said disorder may be detected through some preliminary laboratory tests which may include the following: complete blood count (CBC), activated partial thromboplastin time (PTT), prothrombin time, and assessments for von Willebrand disease such as von Willebrand Factor (vWF) antigen, ristocetin cofactor activity, and factor VIII coagulant activity.
A condition that affects platelet function on an autosomal-recessive basis is Glanzmann thrombasthenia. Patients with this condition exhibit platelet-type bleeding, which can be severe and include purpura, epistaxis, bleeding from the oral mucosa, menorrhagia, or gastrointestinal bleeding. One of the genes that codes for the polypeptides of the platelet integrin receptor has mutations in both alleles that lead to this disorder. Point mutations, splicing faults, minor deletions, and gene inversions have all been shown to be the most common causal mutations in individuals with it, which drastically reduce platelet surface expression of the integrin receptor.
Glanzmann Thrombasthenia is an autosomal recessive disorder that results from an insufficient Glycoprotein (GP) IIb/IIIa. GP IIb/IIIa is the key receptor of fibrinogen, both of which play a role in platelet aggregation. Therefore, a patient with Glanzmann Thrombasthenia has a complication with the aggregating ability of their platelets. Several tests may be used to identify a patient suffering from Glanzmann Thrombasthenia. Patients suffering from this disorder will manifest a prolonged bleeding time (BT), abnormal clot retraction, and abnormal aggregation response in ADP, collagen, and epinephrine with a normal response with ristocetin in the platelet aggregometry method.
Deficiency of GPIIb/IIIa results to a genetic platelet surface disorder known as Glanzmann's thrombasthenia. It can be tested by checking Bleeding time, and platelet aggregation tests.
source: Solh, T., Botsford, A., & Solh, M. (2015). Glanzmann's thrombasthenia: pathogenesis, diagnosis, and current and emerging treatment options. Journal of blood medicine, 6, 219–227. https://doi.org/10.2147/JBM.S71319
source:
Glanzmann’s thrombasthenia is an autosomal recessive disorder that affects the megakaryocyte lineage. It is characterized by deficiency of the GP IIb/IIIa, the receptor responsible for inhibiting platelet aggregation. Glanzmann thrombasthenia is diagnosed by tests that determine the deficiency of GP IIb/IIIa. These tests involves monoclonal antibodies and flow cytometry.
Nurden, A. T. (2006). Glanzmann thrombasthenia. Orphanet Journal of Rare Diseases, 1(1). https://doi.org/10.1186/1750-1172-1-10
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