Kalil. 35 years old female presents with Bilateral deep vein thrombosis in legs. There is past history of recurrent fetal loss and one attack of pulmonary embolism. Screening tests of coagulation reveal a prolonged APPT. Likely diagnosis is:
Ans. is c i.e. Antiphospholipid syndrome Antiphospholipid antibody syndrome : Antiphospholipid antibody syndrome (APS) is a treatabledeg, autoimmunedeg disorder associated with recurrent pregnancy loss. There are several antiphospholipid antibodies but the most impoant ones are : Lupus anticoagulant (LAC)deg Anticardiolipin antibody (ACL)deg Antibody which cause biologically false positive syphilis test (BFP - ST)deg Antiphospholipid antibodies are acquired antibodies targeted against a phospholipid. They can be IgG, IgM or IgA isotopes.deg The combination of either anticardiolipin or lupus anticoagulant antibodies with one or more of the following characteristic / diagnostic clinical features is termed as the antiphospholipid antibody syndrome. Diagnostic Clinical Criteria for Antiphospholipid Antibody Syndrome Thrombosis - Venous Aerial (small vessels). Adverse pregnancy outcome 3 or more consecutive miscarriages < 10 weeks. - 1 or more fetal deaths > 10 weeks. 1 or more preterm bihs due to severe pre-eclampsia or IUGR. Indications for Antiphospholipid antibody testing 3 or more consecutive first trimester losses Unexplained 2nd or 3rd trimester loss Unexplained IUGR Early onset severe preeclampsia Unexplained thrombosis Autoimmune connective tissue disease like SLE False positive serological tests for syphilis. Diagnosis : For diagnosis of antiphospholipid antibody syndrome there should be two positive tests, 6 weeks apa for lupus anticoagulant or anticardiolipin antibody in addition to any of the clinical criteria mentioned above. Tests for detection of Lupus anticoagulant It delays clotting in phospholipid dependant coagulation test. - Prolongs activated paial thromboplastin time (APTT) (the term lupus anticoagulant is a misnomer as it prolongs clotting time, in vitro). Anticardiolipin antibody Measured by ELISA test IgM, IgG and IgA antibodies can be demonstrated IgG antibodies > 20U are significant - Prolongs kaolin clotting time. - Prolongs dilute Russel viper venom time. Diagnosis of lupus anticoagulant is confirmed by adding plasma which does not correct APTT, but addition of excess of phosphoiipid corrects APTT.
Factor VIII deficiency
inherited Protein C S deficiency
Antiphospholipid syndrome
Hereditary excess of Anti thrombin III