0521779407-C03 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 20:54
392 Congenital Qualitative Platelet Disorders■Scott syndrome: autosomal recessive; prolonged bleeding time; nor-
mal platelet aggregation; platelets fail to express negatively charged
phospholipids on surface of activated platelets (procoagulant defect)
■Giant platelet disorders w/ thrombocytopenia:
➣May-Hegglin anomaly: autosomal dominant; pale blue inclu-
sions (Dohle bodies) in leukocytes; variable clinical bleeding
➣Epstein syndrome: nerve deafness and nephritis
➣Fechtner syndrome: same as Epstein+cataracts
➣Sebastian platelet syndrome: same as Fechtner+neutrophil
inclusions
management
General Measures
■No aspirin
■Head injury precautions; avoid contact sports
■Assess efficacy of DDAVP infusion in correcting bleeding time
■Education in prevention/management of nosebleeds
■Hormonal management of menorrhagia
specific therapy
Treatment Options
■Local measures for nose/mouth bleeds (pressure, topical thrombin,
e-aminocaproic acid)
■Platelet transfusions for severe hemorrhage; try to avoid sensitiza-
tion to platelets; use white cell-poor platelets for transfusions
■DDAVP for bleeding if efficacious
■Recombinant activated factor VII for bleeding, esp in Glanzmann
thrombasthenia
follow-up
n/a
complications and prognosis
Complications
■Iron deficiency anemia
■Intracranial hemorrhage
■Menorrhagia
■Pregnancy concerns, esp if resistant to platelet transfusions
■Rare joint bleeds
■Development of antibodies to proteins on normal platelets after
transfusions ((decr.) transfused platelet half-life)
Prognosis
■Most pts live near-normal life in spite of platelet defect