Antiphospholipid syndrome is an autoimmune disorder in which the body produces antibodies to its own phospholipids or plasma proteins. Antiphospholipid syndrome (APS) is associated with many pathologies with several clinical manifestations. It can occur as a primary disorder or may be secondary to connective tissue disorder or tumor. Anti-phospholipid antibodies were detected in two categories of patients: in one group with many clinical manifestations (such as thrombotic events, thrombocytopenia and miscarriages) and in the other group with few clinical manifestations. In the first group high levels of IgG and IgA antibodies resulted, in the other group low levels of IgM. The ratio male:female was 1:3.5. Out of the 700 patients examined, 12 resulted positive for anti-cardiolipin (aCL) and a-beta2-GPI (affected by APS), and 15 patients positive for aCL (with middle-high values) but negative for a-beta2-GPI. At this point, according to the guidelines, we could have stopped examining. Only by continuing diagnostic investigation for these 15 patients has it been possible to observe: 2 patients positive for anti-thrombin (important first marker in the diagnosis of venose and arterial thromboses), anti-phosphatidylserine and anti-phosphatidylinositol (markers for cerebral diseases and recurrent miscarriages); 1 patient positive for anti- phosphatidylserine; 1 patient positive for anti-phosphatidylinositol antibody; 1 patient positive for both anti-phosphatidylserine and anti-phosphatidylinositol; 10 patients positive only for anti-cardiolipin. According to the results obtained, and considering that a more accurate investigation permitted to better identify APS syndrome, we propose a new diagnostic procedure.

A new diagnostic approach to better identify antiphospholipid syndrome.

Robuffo I
2008

Abstract

Antiphospholipid syndrome is an autoimmune disorder in which the body produces antibodies to its own phospholipids or plasma proteins. Antiphospholipid syndrome (APS) is associated with many pathologies with several clinical manifestations. It can occur as a primary disorder or may be secondary to connective tissue disorder or tumor. Anti-phospholipid antibodies were detected in two categories of patients: in one group with many clinical manifestations (such as thrombotic events, thrombocytopenia and miscarriages) and in the other group with few clinical manifestations. In the first group high levels of IgG and IgA antibodies resulted, in the other group low levels of IgM. The ratio male:female was 1:3.5. Out of the 700 patients examined, 12 resulted positive for anti-cardiolipin (aCL) and a-beta2-GPI (affected by APS), and 15 patients positive for aCL (with middle-high values) but negative for a-beta2-GPI. At this point, according to the guidelines, we could have stopped examining. Only by continuing diagnostic investigation for these 15 patients has it been possible to observe: 2 patients positive for anti-thrombin (important first marker in the diagnosis of venose and arterial thromboses), anti-phosphatidylserine and anti-phosphatidylinositol (markers for cerebral diseases and recurrent miscarriages); 1 patient positive for anti- phosphatidylserine; 1 patient positive for anti-phosphatidylinositol antibody; 1 patient positive for both anti-phosphatidylserine and anti-phosphatidylinositol; 10 patients positive only for anti-cardiolipin. According to the results obtained, and considering that a more accurate investigation permitted to better identify APS syndrome, we propose a new diagnostic procedure.
2008
Istituto di Genetica Molecolare "Luigi Luca Cavalli Sforza"
Istituto di Genetica Molecolare "Luigi Luca Cavalli Sforza"
antiphospholipid syndrome
APS
anti-cardiolipin
anti-beta 2-glycoprotein-I
anti-prothrombin
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14243/43376
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