Научно-практическая ревматология (Dec 2009)

Clinico-genealogical investigation of antiphospholipid syndrome

  • N N Chapaeva,
  • M A Trifonova

DOI
https://doi.org/10.14412/1995-4484-2009-672
Journal volume & issue
Vol. 47, no. 6
pp. 32 – 39

Abstract

Read online

Objective. Clinicogenealogical investigation of the families of patients with antiphospholipid syndrome (APS). Material and methods. Families of 82 pts with APS fulfilled diagnostic criteria of S. Miyakis et al., 2006 (mean age 47,2±12,1 years, men:women ratio 1:10,7) were studied. “Severe” course of APS (43 patients) was characterized by presence of recurrent thrombotic events and/or thrombosis of several types and/or localizations. Clinicogenealogical investigation included pedigrees analysis (the number of relatives - 615). 46 individuals-relatives of 26 patients with APS (37 first-degree and 9 second-degree relatives, mean age 29,5±16,4 years) were followed up for 4 years. Incidence of “minor” features (livedo reticularis, neurological disorders, heart valves disease, thrombocytopenia) was studied, lupus anticoagulant (LA) test was performed. Statistical analysis was performed with Student’s t test and logistic regression analysis (SPSS 11.5.0). Results. Definite APS was diagnosed in 7 individuals, more frequently - in first-degree relatives and women (the most frequent form of inheritance - mother/daughter). “Minor” features were precursors of APS in 76% patients with APS. These features were found in more than half relatives. LA was detected in 39% of relatives. LA was 5-fold more prevalent in relatives of LA-positive patients with APS as compared with relatives of LA-negative patients. Primary prevention of thrombosis has been successfully conducted in patients with “minor” features of APS and/or positive LA (“pre-APS”). “Severe” course of APS was associated with the presence of cardiovascular diseases in family history (OR 0,32, CI0,11-0,97, multivariate analysis). Conclusion. Girls and first-degree relatives are at higher risk of APS development than boysand second- or third-degree relatives if APS is present in family history. LA, presumably, 39has inherited character. The role of clinicogenealogical method in APS: diagnosis of“pre-APS” and prediction of the disease course.

Keywords