Platelet Size and Function in the Heritable Disorders of Connective Tissue

Abstract

Patients with the Marfan, Ehlers-Danlos, Hurler and Hunter syndromes, osteo-genesis imperfecta and pseudoxanthoma elasticum, and their relatives were surveyed with a semi-quantitative evaluation of the size of their platelets on peripheral blood smears. Considering in turn the total 117 patients and relatives, the 29 available index patients, the total 88 relatives and the 20 affected relatives, the t-test showed that each of these groups had remarkably larger platelets than 69 normal control subjects (p <0.02 in all 4 cases). Relatives of index patients with large platelets also tended to have large platelets, and affected relatives had larger platelets than unaffected ones. However, there was no regularly predictable association between abnormalities of platelet size and function. The data from this family study confirm the impression given by previous case reports that coagulation abnormalities may be present through-out this group of diseases, although infrequently are they clinically important.