25 yr old female with no history of bleeding was investigated for coagulation profile. Her BT & PT were normal but PTT was increased. What is the likely diagnosis (AIIMS Nov 2011)
|A||Factor IX deficiency|
|B||Factor viii inhibitors|
|D||VWF type 3|
Ref: Harrison-18th, edition Pg- 2736
Please note in this question BT, PT are normal, there is no history of leading but PTT is prolonged. Hence the answer is C.
Antiphospholipid antibody syndrome
i. This syndrome occurs in 5% of the general population, but is associated with 50% cases of SLE.
ii. Patients have anti phospholipid antibodies such as lupus anticoagulant, anticardiolipin antibody or anti beta 2 glycoprotein (AIPG 2011) (Harrison-18th, edition Pg- 2736)
iii. Because phospholipids are integral parts of the control of coagulation, these antibodies can lead to a hypercoagulable state, i.e., anti phospholipid antibody syndrome.
Patients with antiphospholipid antibody syndrome fall into two categories.
1. Primary antiphospholipid antibody syndrome
· In these cases there is no evidence of other autoimmune disease, the patient exhibit only the manifestations of antiphospholipid antibody syndrome.
2. Secondary antiphospholipid antibody syndrome
· In this cases antiphospholipid antibody syndrome is associated with an autoimmune disease usually SLE.
Clinical manifestations of antiphospholipid antibody syndrome:
ii. Arterial and venous thromboembolism, avascular osteonecrosis.
· Cytopenia: Thrombocytopenia, autoimmune hemolytic anemia, leukopenia. Pancytopenia can occur. (AIIMS May 2011)
· Coagulopathy: Platelet dysfunction, prothrombin deficiency.
· Acute ischemia (CVA, TIA, encephalopathy);
· Livedo reticularis, acrocyanosis, wide spread cutaneous necrosis,
· Marantic endocarditis, myocardial infarction, peripheral arterial disease. pulmonary hypertension.
· Recurrent spontaneous abortion predominantly second trimester, IUGR, preeclampsia,
viii. Catastrophic antiphospholipid syndromes
In lupus anticoagulant thrombosis occurs (there is no increase in thrombocytes).
Coagulation tests in lupus anticoagulant
PTT à Prolonged
PT à Normal
Fibrinogen à Normal
a. Antiphospholipid antibodies bind to cardiolipin antigen, used in serologic tests for syphilis, and therefore lupus patients may have a false-positive test result for syphilis.
b. Thrombocytopenia occurs.
c. Sterility is not a feature