Giant platelet syndrome is autosomal dominant or recessive inheritance.This disease is rare.It is mainly caused by platelet membrane defects (decrease of sialic acid in platelet membrane, decrease of electrophoretic activity and decrease of GPIa and b content in membrane, which are caused by the specific receptor of VIII binding to lytoxin).
Diagnostic points
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Overview of diagnostic points
(1) Clinical manifestations: mild to moderate skin and mucosa bleeding;Autosomal recessive inheritance;The liver and spleen are not enlarged;Platelets decrease with bleeding.
(2) Laboratory examination: thrombocytopenia with giant platelets;Prolonged bleeding time;Platelet aggregation test: Galytocin did not aggregate, and aggregation was basically normal when other aggregators were added;Platelet glass bead retention test can be reduced;The blood clot contracted normally;VWF is normal;Platelet membrane lacks glycoprotein Ib (GPIb);The secondary thrombocytopenia was excluded.
clinical manifestation
There is often a family history of bleeding, which is often seen in the offspring of inbreeding.Hemorrhage since childhood (newborn onset), with varying degrees of bleeding, mostly moderate skin and mucosa bleeding, severe intracranial bleeding, severe bleeding during trauma or surgery, excessive menstruation in women, and no history of joint muscle bleeding.The tendency of bleeding decreased with age.
laboratory examination
Platelets decreased from normal to moderate, which was disproportionate to the prolongation of bleeding time (BT), and there was a great difference between different patients or the same patient at different times.Most of them are accompanied by giant platelets, with a diameter of 4~8 μ m, up to 15~20 μ m. The central granules are gathered as "pseudonuclei" or "lymphocytes", and their life span is 2~8 days.
BT was prolonged and blood clots contracted normally.
The effectiveness of platelet factor 3 (PF3) is normal or decreased, and the platelet retention test is reduced or normal.
In the platelet aggregation test, Galytocin, thrombin and bovine fibrinogen containing factor VIII did not aggregate, and the aggregation was normal when other inducers were added.
Lack of platelet membrane glycoprotein I (AN51 antigen reduction), because GPIb contains factor VIII/vWF receptor, which can be diagnosed with monoclonal antibody Long antibody, but blood transfusion can produce antibodies against GPIb on the platelet membrane, which shortens the life of imported platelets.
Treatment Overview
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Blood transfusion or platelets can stop bleeding, while adrenocortical hormone or splenectomy can increase platelets and reduce bleeding.There is no cure for this disease.
