title: Inherited prethrombotic disorders and infectious purpura.
abstract: Patients with severe meningococcal infection are characterized by extensive microvascular thrombosis, consumption coagulopathy and secondary hemorrhages. The contribution of the inherited prethrombotic disorders to the severity of the disease course is not established yet. Here, we report on the levels of protein C, protein S, antithrombin and the presence of the factor V Leiden mutation (R506Q) in 50 patients with meningococcal disease, as determined 6 to 58 months after hospital discharge. In addition, we recalled the parents of 16 deceased patients to screen for the mutation in factor V, an abnormality which results in resistance to activated protein C. Among the patients, the prevalence of the genetic risk factors for thrombosis was not higher than expected on the basis of their prevalence in the general population. Moreover, the prevalence of the factor V Leiden mutation was not increased among the parents of the deceased patients. The individual plasma levels of protein C, protein S, and antithrombin did not differ between the patients with or without severe purpura. The present data constitute circumstantial evidence that primary defects in the natural anticoagulant systems do not play a major role in the severity of the disease course. Screening of patients with infectious purpura for inherited thrombotic risk factors is therefore not indicated.
authors.affiliation: Department of Clinical Epidemiology, University Hospital, Leiden, The Netherlands.
authors.forename: R G
authors.initials: RG
authors.lastname: Westendorp
authors.forename: P H
authors.initials: PH
authors.lastname: Reitsma
authors.forename: R M
authors.initials: RM
authors.lastname: Bertina
mesh_terms: D000293:Adolescent; D000328:Adult; D000990:Antithrombin III / Q000032:analysis; D001777:Blood Coagulation; D002648:Child; D002675:Child, Preschool; D005165:Factor V / Q000032:analysis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008589:Meningococcal Infections / Q000097:blood* / Q000150:complications / Q000235:genetics; D008875:Middle Aged; D011486:Protein C / Q000032:analysis; D017293:Protein S / Q000032:analysis; D011693:Purpura / Q000097:blood* / Q000150:complications / Q000235:genetics; D012307:Risk Factors; D013927:Thrombosis / Q000097:blood / Q000209:etiology* / Q000235:genetics
chemical_list: D011486:Protein C; D017293:Protein S; C095381:factor V Leiden; D000990:Antithrombin III; D005165:Factor V