Study of antiphospholipid antibodies in a patient with Sneddon's syndrome and her family.

Abstract

Sneddon's syndrome is a disease characterized by livedo reticularis and cerebrovascular lesions, with a hereditary transmission and unknown etiopathogenesis. A number of reports have documented a link between antiphospholipid antibodies and Sneddon's syndrome with different results. The present work was designed to sequentially study antiphospholipid antibodies in a patient with Sneddon's syndrome and her family and their potential role in thrombotic events. We used cardiolipin and a mixture of phospholipids from rabbit brain as antigen for antiphospholipid assays to determine diagnostic usefulness. A patient with Sneddon's syndrome and 12 available family members belonging to three generations were evaluated to determine the presence of antiphospholipid antibodies (lupus anticoagulant and anticardiolipin antibodies) during vascular thrombotic events and asymptomatic periods. Our results support a temporal relation between thrombotic events in Sneddon's syndrome and lupus anticoagulant; anticardiolipin antibodies remained invariable. Our index case patient and her father could be diagnosed as having primary antiphospholipid antibody syndrome. Aspirin was not effective in preventing thrombosis. After the onset of oral anticoagulant therapy, no recurrences were seen. The use of a mixture of phospholipids as antigen could present some advantages in serological studies performed in antiphospholipid syndromes.

Lupus anticoagulant and Sneddon's syndrome

“…On the other hand Hess et al, (1993) determined by ELISA the amount of immunoglobulin binding to cerebral endothelium in patients with aPL and stroke, and demonstrated that these antibodies are distinct from those to cardiolipin. Lousa et al (1994) have also found a temporal relationship between LA and thrombosis, and in lupus erythematous Ferro et al (1994) suggest that a positive test for LA indicates a high thrombotic risk, whereas the presence of aCL alone may be indicative of low risk.…”

What is the Genetics of Antiphospholipid Antibodies/Syndrome?

“…Several multiplex families with the syndrome and aPL have been described [18][19][20] , including a large family with several individuals having sustained premature strokes [ 21 ] . In contrast, at least one family has been described with familial Sneddon syndrome in which the clinically affected individuals did not have any evidence for aPL, suggesting that Sneddon syndrome, at least in some cases, might be a separate clinical entity from classic APS [ 22 ] .…”

Sneddon’s Syndrome: A Vascular Systemic Disease with Kidney Involvement?

“…The diagnosis put forward by the pathologists was of vas cular nephrosclerosis of an arteriosclerotic nature. antibodies may be difficult to detect and they had been occasionally found in family members of patients with them [13,14], The echocardiogram showed minor mitral valvular abnormalities, which, even though of no functional signif icance, has also been found in other patients [15], A skin biopsy performed on the usual area [8] was normal. The reduction in creatinine clearance has also been found in other patients [8] which suggests that there is renal involvement in these patients as well.…”