Clinico-genealogical investigation of antiphospholipid syndrome
https://doi.org/10.14412/1995-4484-2009-672
Abstract
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.
References
1. <div><p>Воевода М. И., Максимов В. Н., Малютина С. К. Семейный анамнез и его связь с сердечно-сосудистыми заболеваниями в мужской популяции Новосибирска. Бюллетень СО РАМН, 2006, 4, 122, 56-62.</p><p>Клюквина Н. Г. Антифосфолипидный синдром: клинические аспекты. Рус. мед. жур., 2002, 10, 22, 992-5.</p><p>Насонов Е. Л. Критерии диагностики и дифференциальной диагностики антифосфолипидного синдрома. В: Насонов Е. Л. Антифосфолипидный синдром: монография. М.: Литтерра, 2004, 249- 66.</p><p>Brandt J. T., Barna L. K., Triplett D. A. Laboratory identification of lupus anticoagulants: results of the Second International Workshop for Identification of Lupus Anticoagulants. On behalf of the Subcommittee on Lupus Anticoagulants/Antiphospholipid Antibodies of the ISTH. Thromb. Haemost., 1995, 74, 6, 1597- 603.</p><p>D’Cruz. Antiphospholipid (Hughes) syndrome: an overview. In: Hughes syndrome: antiphospholipid syndrome. M. A. Khamashta (ed). London: Springer-Verlag, 2006, 9-21.</p><p>Drenkard C., Villa A. R., Alarcón-Segovia D., et al. Influence of the antiphospholipid syndrome in the survival of patients with systemic lupus erythematosus. J. Rheumatol., 1994, 21, 1067-71.</p><p>Harris E. N. Syndrome of the black swan. Br. J. Rheum., 1987, 26, 5, 324-5.</p><p>Harris E. N., Pierangeli S. S. Antiphospholipid antibodies and antiphospholipid syndrome. In: Systemic lupus erythematosus / P. A. Miescher (ed), Springer, 1995, 93-115.</p><p>Hughes G. R. Thrombosis, abortion, cerebral disease, and the lupus anticoagulant. BMJ, 1983, 287, 1088-9.</p><p>Gharavi A. E., Harris E. N., Asherson R. A., Hughes G. R. Anticardiolipin antibodies: isotype distribution and phospholipid specificity. Ann. Rheum. Dis., 1987, 46, 1-6.</p><p>Ginsburg K. S., Liang M. H., Newcomer L., et al. Anticardiolipin antibodies and the risk for ischemic stroke and venous thrombosis. Ann. Intern. Med., 1992, 117, 997-1002.</p><p>Goel N., Ortel T. L., Bali D., et al. Familial antiphospholipid antibody syndrome: criteria for disease and evidence for autosomal dominant inheritance. Arthritis Rheum., 1999, 42, 318-27.</p><p>Infante R. C., David M., Gauthier R., et al. Lupus anticoagulant, anticardiolipin antibodies, and fetal loss. A case-control study. N. Eng. J. Med., 1991, 325, 1063-6.</p><p>Levine S. R., Brey R. L., Joseph C. L. M., et al. Risk of recurrent thromboembolic events in patients with focal cerebral ischemia and antiphospholipid antibodies. Stroke, 1992, 18, 29-32.</p><p>Matthey F., Walshe K., Mackie I. J., Machin C. J. Familial occurrence of the antiphospholipid syndrome. J. Clin. Pathol., 1989, 42, 495-7.</p><p>Miyakis S., Lockshin M.D., Atsumi T., et al. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J. Thromb. Haemost., 2006, 4, 295- 306.</p><p>Munts A. G., van Genderen P. J., Dippel D. W., et al. Coagulation disorders in young adults with acute cerebral ischaemia. J. Neurol., 1998, 245, 21-4.</p><p>Pattison N. S., Chamley L. W., McKay E. J., et al. Antiphospholipid antibodies in pregnancy: prevalence and clinical associations.Br. J. Obstet. Gynaecol., 1993, 100, 909-13.</p><p>Piette J. C. Diagnostic and classification criteria for the antiphospholipid syndrome: a “mission” impossible. Lupus, 1996, 5, 354-63.</p><p>Piette J. C. Towards improved criteria for the antiphospholipid syndrome. Lupus, 1998, 7, suppl. 2, 149-57.</p><p>Radway-Bright E. L., Ravirajan C. T., Isenberg D. A. The prevalence of antibodies to anionic phospholipids in patients with the primary antiphospholipid syndrome, systemic lupus erythematosus and their rela- tives and spouses. Rheumatology (Oxford), 2000, 39, 4, 427-31.</p><p>Rix P., Stentoft J., Aunsholt N. A., et al. Lupus antico- agulant and anticardiolipin antibodies in an obstetric population. Acta Obstet. Gynecol. Scand., 1992, 71, 605-9.</p><p>Sammaritano L. R., Piette J. C. Pediatric and familial antiphospholipid syndromes. In: The antiphospholipid syndrome II: autoimmune thrombosis. Asherson R. A., Cervera R., Piette J. C., Shoenfeld Y. (eds). Elsevier, 2002, 297-316</p><p>Shi W., Krilis S. A., Chong B. H., et al. Prevalence of lupus anticoagulant and anticardiolipin antibodies in a healthy population. Aust. N. Z. J. Med., 1990, 20, 3, 231-6.</p><p>URL: http://www.orphanet.ru</p><p>URL: http://www.wrongdiagnosis.com/medical/rare_disease.htm</p><p>Vaarala O., Mänttäri M., Manninen V., Tenkanen L., et al. Anti-cardiolipin antibodies and risk of myocardial infarction in a prospective cohort of middle-aged men. Circulation, 1995, 91, 23-7.</p><p>Weber M., Hayem G., DeBandt M., et al. The family history of patients with primary or secondary antiphospholipid syndrome (APS). Lupus, 2000, 9, 258-63.</p><p>Wilson W. A., Scopelitis E., Michalski J. P., et al. Familial anticardiolipin antibodies and C4 deficiency genotypes that coexist with MHC DQB1 risk factors. J. Rheumatol., 1995, 22, 2, 227-35.</p><p>Wisloff F., Jacobsen E. N., Liestol S. Laboratory diagnosis of the antiphospholipid syndrome. Thromb. Res., 2002, 108, 263-67.</p></div><br />
Review
For citations:
Chapaeva N.N., Trifonova M.A. Clinico-genealogical investigation of antiphospholipid syndrome. Rheumatology Science and Practice. 2009;47(6):32-39. (In Russ.) https://doi.org/10.14412/1995-4484-2009-672
Views:
972
Email this article 