Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes.
Three forms of hereditary thrombocytopenia with giant platelets and inclusion bodies in the leukocytes have thus far been recognized. The May-Hegglin anomaly is characterized by giant platelets and spindle-shaped inclusion bodies in the leukocytes, which consist of 7-10 nm parallel-lying filaments. The Fechtner syndrome is a variant of the Alport syndrome, with inclusion bodies consisting of dispersed filaments, ribosomes and a few segments of rough and smooth endoplasmic reticulum. The Sebastian platelet syndrome shows the same platelet and leukocyte morphology observed in the Fechtner syndrome, but the additional anomalies e.g., the Alport syndrome, are lacking. The clinical signs and symptoms are variable. Most patients show only a mild bleeding tendency or are asymptomatic, but cases of severe postoperative hemorrhage have also been reported. Platelets can vary greatly in number, but are usually in the range of 20,000 to 120,000 platelets/microliters, showing a mean platelet volume of 15-20 fl, unimpaired in vitro function and, in addition to their size and unorganized microtubular system, normal morphology. To date, no platelet membrane defects have been defined. Because the megakaryocyte number and platelet kinetics are normal, the pathogenesis of thrombocytopenia in these giant platelet syndromes is unresolved; this is also true of the leukocyte inclusion bodies. Because of the ubiquity of electronic particle counters, asymptomatic patients are increasingly being identified, but they are often misdiagnosed as having autoimmune thrombocytopenia.
Greinacher
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Institute for Clinical Immunology and Transfusion Medicine, Justus Liebig University, Giessen, Federal Republic of Germany.
Mueller-Eckhardt
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D001606:Bernard-Soulier Syndrome / Q000150:complications; D001792:Blood Platelets / Q000473:pathology; D003937:Diagnosis, Differential; D006801:Humans; D002479:Inclusion Bodies; D007962:Leukocytes / Q000473:pathology; D008533:Megakaryocytes / Q000473:pathology; D010976:Platelet Count; D013921:Thrombocytopenia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*