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Platelet Function Disorders
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Bernard-Soulier Syndrome
Mechanism: Genetic defect in glycoprotein Ib-V-IX complex on platelets; impairs adhesion. Symptoms: Bruising, nosebleeds, gum bleeding, menorrhagia. Treatment options: Platelet transfusions, antifibrinolytic agents, recombinant activated factor VII.
Thrombotic Thrombocytopenic Purpura (TTP)
Mechanism: ADAMTS13 enzyme deficiency leads to large vWF-factor multimers and microthrombi. Symptoms: Microangiopathic hemolytic anemia, fever, kidney failure, neurological changes. Treatment options: Plasma exchange, corticosteroids, rituximab.
Glanzmann Thrombasthenia
Mechanism: Genetic absence or dysfunction of glycoprotein IIb/IIIa on platelets precludes platelet aggregation. Symptoms: Mucocutaneous bleeding, epistaxis, menorrhagia. Treatment options: Platelet transfusions, antifibrinolytic agents, recombinant factor VIIa.
Immune Thrombocytopenic Purpura (ITP)
Mechanism: Autoimmune production of antibodies against platelets. Symptoms: Easy bruising, bleeding gums, petechiae. Treatment options: Corticosteroids, IV immunoglobulins, splenectomy if refractory.
Hemophilia A
Mechanism: Deficiency of clotting factor VIII. Symptoms: Joint bleeding, bruising, spontaneous bleeding. Treatment options: Factor VIII concentrate, desmopressin for mild cases, avoiding blood thinners.
Platelet-type Von Willebrand Disease
Mechanism: Platelets express unusual receptor with increased affinity for von Willebrand factor. Symptoms: Similar to classic von Willebrand disease, including mucocutaneous bleeding. Treatment options: Care during surgeries, avoiding aspirin, antifibrinolytic medications.
Von Willebrand Disease
Mechanism: Defective or deficient von Willebrand factor (vWF) which helps platelets clump and stick to blood vessel walls. Symptoms: Excessive bleeding from gums or nose, heavy menstrual periods, prolonged bleeding from cuts. Treatment options: Desmopressin, vWF-containing concentrates, antifibrinolytic agents.
Scott Syndrome
Mechanism: Defective scrambling of phospholipids on the platelet surface, affects coagulation cascade. Symptoms: Mild bleeding tendency, wounds healing with delayed hemostasis. Treatment options: Supportive care, blood transfusions for severe bleeding.
Thrombocytopenia
Mechanism: Decreased platelet production or increased destruction. Symptoms: Easy bruising, prolonged bleeding, petechiae. Treatment options: Blood transfusions, steroids or immunoglobulins if immune-related, treating underlying cause.
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