PLATELET DISORDER DESCRIPTION Flashcards
(20 cards)
A rare hereditary platelet disorder with giant platelets and bleeding tendencies due to platelet hyperreactivity.
Montreal Platelet Syndrome
MYH9-related disorder marked by macrothrombocytopenia, leukocyte inclusions (Döhle-like bodies), nephritis, hearing loss, and cataracts.
Fechtner Syndrome
also MYH9-related—with large platelets and leukocyte inclusions but milder clinical symptoms.
Sebastian Syndrome
MYH9 disorder with macrothrombocytopenia, renal disease, and sensorineural hearing loss.
Epstein Syndrome
A benign inherited condition common in Mediterranean populations; features large platelets and mild thrombocytopenia without significant bleeding.
Mediterranean Macrothrombocytopenia
A syndrome involving albinism, bleeding diathesis, and lysosomal storage dysfunction; due to absent dense granules in platelets.
Hermansky-Pudlak Syndrome
Autosomal recessive disorder with albinism (partial), immunodeficiency, and bleeding due to giant granules in platelets and other cells.
Chediak-Higashi Syndrome
X-linked disorder with eczema, immunodeficiency, and microthrombocytopenia (small, defective platelets).
Wiskott-Aldrich Syndrome
Impaired thromboxane A2 synthesis or function leads to defective platelet aggregation.
Thromboxane Pathway Disorder
Rare condition with a defect in phospholipid exposure on platelet surfaces, impairing coagulation.
Scott Syndrome
Rare syndrome (bleeding disorder) with thrombocytopathy, muscle fatigue, asplenia, and miosis—caused by STIM1 gene mutations.
Stormorken Syndrome
A group of bone marrow disorders with excessive blood cell production, including platelets, often leading to clotting or bleeding.
Myeloproliferative Neoplasm (MPN)
Lymphoplasmacytic lymphoma with high IgM levels, causing hyperviscosity and platelet dysfunction.
Waldenstrom Macroglobulinemia
A rare autosomal recessive disorder with absent or very low fibrinogen levels, leading to severe bleeding.
Hereditary Afibrinogenemia
A vascular disorder causing abnormal blood vessel formation and recurrent bleeding, particularly epistaxis.
Hereditary Hemorrhagic Telangiectasia (HHT)
A condition where vascular tumors trap platelets, causing severe thrombocytopenia and consumptive coagulopathy.
Hemangioma-Thrombocytopenia Syndrome (Kasabach-Merritt Syndrome)
An autosomal recessive disorder where platelets lack the GPIIb/IIIa receptor, causing defective aggregation despite normal platelet count.
Glanzmann Thrombasthenia
Autosomal recessive disorder with a defect in GPIb-IX-V complex, impairing platelet adhesion; associated with large platelets and thrombocytopenia.
Bernard-Soulier Syndrome
Rare disorder where platelets lack alpha granules, resulting in “gray” appearance on peripheral smear and bleeding tendencies.
Gray Platelet Syndrome
A MYH9-related disorder with giant platelets, thrombocytopenia, and Döhle-like inclusions in leukocytes; often mild bleeding.
May-Hegglin Anomaly
