Inherited Macrothrombocytopenia with Distinctive Platelet Ultrastructural and Functional Features

Bianca Rocca; Franco O. Ranelletti; Nicola Maggiano; Giovanni Ciabattoni; Raimondo De Cristofaro; Raffaele Landolfi

doi:10.1055/s-0037-1613753

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2000; 83(01): 35-41
DOI: 10.1055/s-0037-1613753

Commentary

Schattauer GmbH

Inherited Macrothrombocytopenia with Distinctive Platelet Ultrastructural and Functional Features

Authors

Bianca Rocca

Department of From the Research Center for Pathophysiology of Haemostasis, Department of Internal Medicine
Franco O. Ranelletti

¹Department of Histology, Catholic University School of Medicine, Rome, Italy
Nicola Maggiano

²Department of Pathology, Catholic University School of Medicine, Rome, Italy
Giovanni Ciabattoni

³Department of Pharmacology, Catholic University School of Medicine, Rome, Italy
Raimondo De Cristofaro

Department of From the Research Center for Pathophysiology of Haemostasis, Department of Internal Medicine
Raffaele Landolfi

Department of From the Research Center for Pathophysiology of Haemostasis, Department of Internal Medicine

Abstract

Summary

We report a family with inherited macrothrombocytopenia and characteristic large membrane complexes in the platelets. Two affected subjects had platelet counts of 40 and 65X10⁹/L respectively as assessed by contrast phase microscopy. Ultrastructural studies revealed giant spheroid platelets with characteristic large membrane complexes and/or giant vacuoles containing platelet organelles. Immunohistochemical studies of actin and tubulin showed a disorganization of the microtubule and actin systems. These abnormalities were absent in leukocytes, indicating a platelet-specific cytoskeleton disorder.

Platelet autoantibodies were repeatedly absent. Nevertheless, in the peripheral blood we observed several figures of platelet phagocytosis by macrophages and neutrophils. The in vitro aggregometric response of platelets to ADP, collagen, thrombin, ristocetin was present, but shape change was absent. The urinary excretion of thromboxane A2 metabolites of the affected subjects were approximately 2 standard deviations above control values, in spite of a reduced maximal biosynthetic capacity of thromboxane from giant platelets assessed in vitro during whole blood clotting.

This inherited platelet disorder shows structural and functional features which allow to distinguish it from other syndromes associated with giant platelets. We also propose to include ultrastructural and cytoskeletal studies in the diagnosis as well as in the classification of inherited giant platelet disorders.

Key words

Macrothrombocytopenia - actin - tubulin - platelet ultrastructure - platelet - function - thromboxane

Full Text

References

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