Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): clinical and laboratory findings.
Am J Med
; 104(4): 355-60, 1998 Apr.
Article
em En
| MEDLINE
| ID: mdl-9576409
ABSTRACT
PURPOSE:
May-Hegglin anomaly is a rare hereditary condition characterized by the triad of thrombocytopenia, giant platelets, and inclusion bodies in leukocytes. Clinical features and the pathogenesis of bleeding in this disease are poorly defined. PATIENTS ANDMETHODS:
From 1988 to 1996 we studied 15 new May-Hegglin anomaly patients from 7 unrelated Italian families. In addition to clinical examination and routine laboratory testing, we measured bleeding time, platelet aggregation and release reaction, and platelet staining for tubulin, and performed ultrastructural study of polymorphonuclear leukocytes.RESULTS:
Although the mean age of our patients was 33 years, May-Hegglin anomaly had not been previously recognized in any of them. Bleeding diatheses ranged from severe to absent, and platelet count from 26 to 178 x 10(9)/L. No correlation was found between bleeding tendency and platelet count. Previous therapy with corticosteroids, high-dose immunoglobulins, and splenectomy had no effect on platelet count or bleeding diathesis. Desmopressin infusion greatly shortened the bleeding time in the most severely affected patient. The in vitro function of platelets was normal except for the absence of shape change in all subjects and defective response to epinephrine in 8 of 15 patients. Platelet tubulin was distributed unevenly instead of being organized in a circumferential band at the cell periphery.CONCLUSION:
The diagnosis of May-Hegglin is easily missed, and its frequency is probably underestimated. A qualitative defect of platelets may be responsible for mild bleeding diathesis even in the absence of thrombocytopenia, while severe bleeding results from both qualitative and quantitative platelet defects. May-Hegglin anomaly should be suspected whenever a patient has a low platelet count or a bleeding diathesis of unknown origin.
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Bases de dados:
MEDLINE
Assunto principal:
Trombocitopenia
/
Plaquetas
/
Corpos de Inclusão
/
Neutrófilos
Tipo de estudo:
Diagnostic_studies
/
Qualitative_research
Limite:
Adolescent
/
Adult
/
Aged
/
Child, preschool
/
Female
/
Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Am J Med
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Itália