Download PDF
Thromb Haemost 1975; 33(02): 278-285
DOI: 10.1055/s-0038-1647881
Original Article
Schattauer GmbH

Essential Athrombia

Study of a New Case
Şeref Inceman
1   Department of Hematology, Clinic of Internal Medicine, Istanbul Medical Faculty, Çapa, Istanbul, Turkey
,
Yücel Tangün
1   Department of Hematology, Clinic of Internal Medicine, Istanbul Medical Faculty, Çapa, Istanbul, Turkey
› Author Affiliations
Further Information

Publication History

Received 29 October 1974

Accepted 21 November 1974

Publication Date:
02 July 2018 (online)

    Permissions and Reprints

Summary

A constitutional platelet function disorder in a twelve-year-old girl characterized by a lifelong bleeding tendency, prolonged bleeding time, normal platelet count, normal clot retraction, normal platelet factor 3 activity and impaired platelet aggregation was reported.

Platelet aggregation, studied turbidimetrically, was absent in the presence of usual doses of ADP (1–4 μM), although a small wave of primary aggregation was obtained by very large ADP concentrations (25–50 μM). The platelets were also unresponsive to epinephrine, thrombin and diluted collagen suspensions. But an almost normal aggregation response occurred with strong collagen suspensions. The platelets responded to Ristocetin. Pelease of platelet ADP was found to be normal by collagen and thrombin, but impaired by kaolin. Platelet fibrinogen content was normal.

The present case, investigated with recent methods, confirms the existence of a type of primary functional platelet disorder characterized solely by an aggregation defect, described in 1955 and 1962 under the name of “essential athrombia.”

 

  • References

  • 1 Borchgrevink C. F. A method for measuring platelet adhesiveness in vivo. Acta Medica Scandinavica 1960; 168: 157
    PubMedGoogle Scholar
  • 2 Brecher G, Cronkite E. P. Morphology and enumeration of human blood platelets. Journal of Applied Physiology 1950; 3: 365
    CrossrefPubMedGoogle Scholar
  • 3 Caen J. Glanzmann thrombasthenia. Clinics in Haematology 1972; 1: 383
    PubMedGoogle Scholar
  • 4 Caen J. P, Castaldi P. A, Leclerc J. C, Inceman S, Larrieu M. J, Probst M, Bernard J. Congenital bleeding disorders with long bleeding time and normal platelet count. I. Glanzmann’s thrombasthenia (report of fifteen patients). American Journal of Medicine 1966; 41: 4
    CrossrefPubMedGoogle Scholar
  • 5 Caen J, Larrieu M. J, Samama M. L’Hémostase. Méthodes d’Exploration et Diagnostic Pratique. Expansion Scientifique Française; Paris: 1968
    Google Scholar
  • 6 Cronberg S, Nilsson I. M. Investigations in a family with thrombasthenia of moderately severe type with 16 affected members. Scandinavian Journal of Haematology 1968; 5: 17
    PubMedGoogle Scholar
  • 7 Cronberg S, Nilsson I. M, Zetterqvist E. Investigation of a family with members with both severe and mild degree of thrombasthenia. Acta Paediatrica Scandinavica 1967; 56: 189
    CrossrefPubMedGoogle Scholar
  • 8 Gandolfo G. M. Le trombocitopatie congenite sporadiche. Il Progresso Medico 1971; 27: 31
    PubMedGoogle Scholar
  • 9 Goldman B. A, Aledort L. A. Essential athrombia: a family study. Annals of Internal Medicine 1972; 76: 269
    CrossrefPubMedGoogle Scholar
  • 10 Hardisty R. M, Dormandy K. M, Hutton R. A. Thrombasthenia. Studies on three cases. British Journal of Haematology 1964; 10: 371
    PubMedGoogle Scholar
  • 11 Horowitz H. I, Papayoanou M. F. Activation of platelet factor 3 by adenosine 5’diphosphate. Thrombosis et Diathesis Haemorrhagica 1968; 19: 18
    PubMedGoogle Scholar
  • 12 Inceman Ş. Thrombopathie hémorragique avec altération élective des fonctions d’agglutination. Sang 1955; 26: 190
    PubMedGoogle Scholar
  • 13 Inceman Ş, Caen J, Bernard J. Aggregation, adhesion, and viscous metamorphosis of platelets in congenital fibrinogen deficiencies. Journal of Laboratory and Clinical Medicine 1966; 68: 21
    PubMedGoogle Scholar
  • 14 Inceman Ş, Tangün Y. A simple test for the evaluation of platelet coagulant activity. Journal of Laboratory and Clinical Medicine 1969; 74: 174
    PubMedGoogle Scholar
  • 15 Inceman Ş, Tangün Y. Platelet defects in the myeloproliferative disorders. Annals of the New York Academy of Sciences 1972; 201: 251
    CrossrefPubMedGoogle Scholar
  • 16 Inceman Ş, Ünügür A, Aran M. Essential athrombia. Thrombosis et Diathesis Haemorrhagica 1962; 8: 502
    PubMedGoogle Scholar
  • 17 Karaca M, Nilsson I. M, Hedner U. Quantitative determination of platelet fibrinogen. Journal of Laboratory and Clinical Medicine 1971; 77: 485
    PubMedGoogle Scholar
  • 18 Spaet T. H, Cintron J. Studies on platelet factor-3 availability. British Journal of Haematology 1965; 11: 269
    CrossrefPubMedGoogle Scholar
  • 19 Tangün Y. Platelet aggregation and platelet factor 3 activity in myeloproliferative disorders. Thrombosis et Diathesis Haemorrhagica 1971; 25: 241
    PubMedGoogle Scholar
  • 20 Ulutin O. N. Qualitative platelet disorders: classification and pathogenesis. Annals of the New York Academy of Sciences 1972; 201: 174
    CrossrefPubMedGoogle Scholar
  • 21 Weiss H. J. Platelet aggregation, adhesion and adenosine diphosphate release in thrombopathia (platelet factor 3 deficiency). A comparison with Glanzmann’s thrombasthenia and von Willebrand’s disease. American Journal of Medicine 1967; 43: 570
    CrossrefPubMedGoogle Scholar
  • 22 Weiss H. J, Aledort L. M, Kochwa S. The effect of salicylates on the hemostatic properties of platelets in man. Journal of Clinical Investigation 1968; 47: 2169
    CrossrefPubMedGoogle Scholar