Cerebral ischemia and livedo reticularis in a patient with impairment of coagulation factor VII and free protein S

Abstract

The association of ischemic cerebrovascular lesions with livedo reticularis is known as Sneddon syndrome. It affects young subjects, primarily women, and its neurological manifestations are TIAs, ischemic stroke, progressive dementia and epileptic seizures. Its etiopathogenesis has still to be clarified. Some authors have associated it with an antiphospholipid antibody syndrome. Recently it has been assumed that a defect in blood coagulation may be involved in its pathogenesis. Here we report a case in which both an increase in coagulation factor VII activity and a deficiency in free protein S were documented.

Livedoid vasculopathy and popliteal artery occlusion in a patient with protein S deficiency

“…Interestingly, two previous papers showing association between decreased protein S activity and LV reported thrombotic complications of the artery similar with this patient, even though protein S deficiency usually causes venous thromboembolisms . Other abnormalities of the protein C pathway, such as factor V Leiden and protein C deficiency, can cause LV, but few patients developed arterial thrombotic events.…”

“…Decreased protein S level can result from not only genetic mutations in the PS gene, but also many pathological states such as liver disease, autoimmune disease and imbalances in sex steroids . A small number of papers have reported the association between LV and decreased protein S activity so far, but none have undertaken gene analysis of protein S. This is therefore the first report to confirm congenital protein S deficiency resulting in LV. Protein S Tokushima is normally secreted in the blood circulation, but lacks the cofactor activity, consistent with the results of the blood coagulation tests described above (Fig.…”

Sneddon's Syndrome

“…We identified 97 case series and reports with 426 individuals with Sneddon's syndrome. In 42 case reports and 23 case series, containing a total of 208 individuals, the presence or absence of headache is not mentioned (15–64). The female to male ratio for this group is 3 : 1.…”

“…Platelet activation has been documented in Sneddon's syndrome (16, 53) and the finding of increased antigen levels of von Willebrand's factor (101), a marker of endothelial dysfunction causing platelet activation, suggests a link between the vasculopathy and coagulopathy in this disorder. A number of other coagulation abnormalities have been reported, including elevated coagulation factor VII (61) and VIII activity (102), and decreased protein S (61, 92) and activated protein C resistance (23).…”