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• Fechtner – similar abnormalities with deafness, cataracts and nephritis
• Genetic defect not established yet – Epstein – deafness, ocular problems, glomerulonephritis
TAR• Neonatal thrombocytopenia and
congenital absence or extreme hypoplasia of the radial bones with absent, short or malformed ulnae
• Transient leukemoid reactions, cardiac lesions
• Fetal injury at 8 weeks of gestation• Radiation sensitivity syndrome
Fanconi anemia• Bony abnormalities• Visceral organ abnormalities• pancytopenia
Congenital Amegakaryocytic Thrombocytopenia• Autosoma recessive • BM failure• 20,000/uL at birth• Physical anomalies• Petechiae and evidence of bleeding• 1st year of life – aplastic anemia, MDS,
leukemia• Mutation in c-mlp gene
– (thrombopoietin receptor)
Autosomal Dominant and X – Linked Thrombocytopenia• Autosomal Dominant – mild bleeding,
normal platelet function and megakaryocyte number and morphology
• X – linked – mutation in WASP (Wiskott Aldrich Syndrome protein) or GATA-1 gene; mild thrombocytopenia or macrothrombocytopenia with severe bleeding
• Chronic ITP: offending antibodies attach to platelets; the Ab-labelled platelets are removed from circulation by RES cells, spleen; cytotoxic T cell mediated lysis of platelets have been shown in vitro using CD3/CD8; shortened lifespan of platelets
Findings:• Remission and exacerbation• High MPV• Marrow – megakaryocytic hyperplasia
2
Treatment:• IVIG• Prednisone• Anti-D• Splenectomy (if prednisone is
dysfunction, thrombosis (most common cause of death) leading to digital pain/gangrene or erythromyalgia - arteriolar inflammation and occlusive thrombosis
• Bleeding time usually normal; adhesion may be decreased
Thrombosis• Hereditary
– deficiencies of natural inhibitors of coagulation
– deficiency of plasminogen– Deficiency of Factor XII– Dysfibrinogenemia– Homocystinuria– Deficiency in heparin co-factor II– Defects in fibrinolysis
essential thrombocythemia and other myeloproliferative disorders
• MOA – unknown / inhibits megakaryocyte maturation and platelet release; affects megakaryocytopoiesis without significantly affecting the other marrow elements
Excessive Bleeding• Increased fragility of vessels• Platelet deficiency or dysfunction• Derangement of coagulation• Combination of these
Normal Hemostatic Response• Blood vessel wall• Platelets • Clotting cascade
Disorders of Primary HemostasisI. Platelet Disorders
A. Qualitative B. Quantitative
II. Vascular Disorders A. Hereditary B. Acquired
Disorders of Secondary HemostasisI. Hereditary Hemorrhagic Coagulation
DisordersII. Acquired Hemorrhagic Coagulation
Disorders
Disorders of Primary HemostasisI. Platelet Disorders
A. Qualitative Platelet Disorders 1. Disorders of Platelet Adhesion a. Bernard Soullier/Giant Plt Syndr. b. von Willebrand Disease 2. Disorders of Platelet Aggregation a. Glanzmann’s thrombasthenia b. Acquired von Willebrand Disease 3. Disorders of Platelet Secretion or
Release Rxs. a. Storage Pool Diseases 1. Electron dense/delta granules